Dr. Keith Stewart is a consultant in the Division of Hematology/Oncology at Mayo Clinic; and recognized as the Vasek and Anna Maria Polak Professor of Cancer Research.
Dr. Stewart received an M.B., Ch.B. degree at Aberdeen University Medical School in the United Kingdom; and an MBA degree at the University of Western Ontario.
As a leader in the precision medicine field, he has more than 20 years of sustained national funding for laboratory research programs focusing on genomics and individualized treatment of multiple myeloma; and has led numerous clinical trials for multiple myeloma.
Dr. Stewart serves as Dean for Research in Arizona and is a member of the Arizona Executive Operations Team and Clinical Practice Committee.
Dr. Stewart has authored more than 250 publications and was an associate editor for Blood from 2009-2014. He has served on multiple national committees and advisory boards recently, including the National Cancer Institute Experimental Therapeutics Study Section Chair; the Medical and Scientific Advisory Board of the Leukemia & Lymphoma Society; and the Investment and Audit Committee of the American Society of Hematology.
Cathy Wurzer is the host of Morning Edition on the MPR News network. She is also the co-host of Almanac, a weekly public affairs program for Minnesota's statewide public television network, the longest running program of its kind in the nation. Ms. Wurzer holds degrees in broadcast journalism and urban studies from the University of Wisconsin-River Falls.
Prior to her work with MPR News, Ms. Wurzer anchored and reported for WCCO-TV, the CBS affiliate in Minneapolis. In addition, she was a talk show host for WCCO-AM radio, a producer for KMSP-TV, and a political reporter for KSTP-AM radio.
She is the author of "Tales of the Road: Highway 61" and co author of the recently released "We Know How This Ends: Living while Dying" published by the University of Minnesota Press with Bruce Kramer, the former Dean of the College of Education at the University of St. Thomas. The book is a follow up to their award winning series of MPR News radio interviews on Bruce Kramer's life with ALS.
Ms. Wurzer was awarded multiple Emmy Awards for her work on Almanac, and is a member and past president of the Society for Professional Journalists Minnesota chapter.
Dr. Ashely completed his medical residency and a PhD at the University of Oxford (Molecular Genetics and Cellular Biology). He trained in cardiology and advanced heart failure at Stanford University, joining the faculty in 2006.
In 2010, a precision medicine pioneer, Dr. Ashley led the team that carried out the first clinical interpretation of a human genome. Published in the Lancet the paper was the focus of over 300 news stories, was one of the most cited articles in clinical medicine and was featured in the Genome Exhibition at the Smithsonian Museum.
In 2013, Dr. Ashley was recognized by the White House Office of Science and Technology Policy for his contributions to Personalized Medicine. He is a recipient of the National Innovation Award from the American Heart Association and a National Institutes of Health (NIH) Director’s New Innovator Award for work focused on precision medicine for genetic heart disease. He is a member of the Institute of Medicine of the National Academy of Sciences Roundtable on Translating Genomic-Based Research for Health.
In 2014, under his leadership, the Stanford Center for Undiagnosed Diseases became part of the renowned NIH Undiagnosed Diseases Network, where Dr. Ashley serves as co-chair. Dr. Ashley is an Associate Professor of Medicine and Genetics and, by courtesy, Pathology. He chairs the Stanford Biomedical Data Science Initiative and is the scientific director for the Big Data in Biomedicine Conference.
He is co-PI of MyHeartCounts, developed with Apple as one of the launch applications for their ResearchKit —one of the first clinical studies entirely administered via mobile phone. He is also co-founder of Personalis, Inc., a genetic diagnostics company focused on the development of clinical grade genome scale diagnostics.
Dr. Caulfield graduated from the London Hospital Medical College (1984) in Medicine and trainedat St. Bartholomew’s Hospital (Barts) in Clinical Pharmacology, developing a research program in molecular genetics of hypertension and clinical research. He won the Lily Prize of the British Pharmacology Society (2009). In 2007, 2009 and 2011, his research was rated among the top 10 scientific discoveries in his field. He is a Fellow of The Royal College of Physicians.
He was director of William Harvey Research Institute (2002) and elected to the Academy of Medical Sciences (2008). He is a National Health Service (NHS) consultant in the Barts Blood Pressure Clinic (Barts /William Harvey European Society of Hypertension Centre of Excellence). He raised £25m for the William Harvey Heart Centre which created a translational clinical research center. In 2015 he led the merger of the University College London Hospitals, Heart Hospital, the London Chest Hospital and Barts to create the Bart’s Heart Centre — the UK’s largest heart centre. He is director of the Barts National Institute of Health Research Cardiovascular Biomedical Research Unit (2008).
Dr. Caulfield was President of the British Hypertension Society (2009-2011). He also served on the NICE Guideline Group for hypertension and leads the Joint UK Societies’ Working Group and Consensus on Renal Denervation which he has driven from research into NHS care.
In 2013, he was appointed chief scientist for Genomics England and became aNIHR Senior Investigator. He leads the delivery of the 100,000 Genomes Project in rare disease, cancer and infection, and all scientific activities for Genomics England. He engages with NHS scientific teams and the public to promote the 100,000 Genomes Project and oversees the Clinical Interpretation Partnership. In 2014, he became one of the top 200 most highly cited researchers in the world in genomics, according to Thomson Reuters.
Kathy Giusti, a multiple myeloma patient, is the Founder of the Multiple Myeloma Research Foundation (MMRF) and currently serves on the MMRF Board of Directors. She also has more than two decades of experience in the pharmaceutical industry, previously holding senior positions at G.D. Searle and Merck.
Since founding the MMRF in 1998, Giusti has led the Foundation in establishing innovative, collaborative research models in the areas of tissue banking, genomics, and clinical trials. These models are dramatically accelerating the pace at which lifesaving treatments are brought to patients and are building an end-to-end solution in precision medicine. Today, Giusti is widely recognized as a pioneer of precision medicine, a champion of open-access data sharing and a strong advocate for patient engagement, not only in their cancer care, but as part of the research and drug development process.
She was selected to serve on President Obama's 2015 Precision Medicine Initiative Working Group. She currently serves on the Harvard Business School Health Advisory Board and has previously served on the President's Council of Advisors on Science and Technology, National Cancer Advisory Board and the National Cancer Policy Board.
Giusti's leadership has earned her several prestigious awards and recognitions. She was ranked #19 on Fortune Magazine's Worlds' 50 Greatest Leaders and was named to TIME 100 List of the world's most influential people. She has been named an Open Science Champion of Change by the White House and has also received the American Association for Cancer Research Centennial Medal for Distinguished Public Service.
Giusti received her MBA in general management from Harvard Business School. She holds an honorary Doctorate from the University of Vermont.
Dr. Jill Hagenkord joined the company in 2014 and serves as chief medical officer for 23andMe where she is responsible for all medical affairs activities serving as the company liaison to physician, medical, genetics and research industry groups. Jill also oversees laboratory, shipping and fulfillment operations for the company.
Previously, Jill served as senior vice president of medical strategy for InVitae Corporation, a genetics information company, where her role included serving as medical director, contributing to corporate strategy, acting as commercial liaison, and leading the company’s physician education programs.
Jill is a board-certified molecular genetic pathologist. Prior to joining Invitae, she served as chief medical officer and senior vice president at Complete Genomics, Inc. Her other prior experiences include founder and chief medical officer for iKaryos Diagnostics, associate professor of pathology at Creighton University School of Medicine, director of molecular pathology and clinical genomics at Creighton Medical Laboratories, and pathologist at Deltagen, Inc. Jill received her M.D. from Stanford University School of Medicine in 1999, did her residency training in pathology at the University of California at San Francisco and the University of Iowa, and completed fellowships in pathology/oncology informatics and molecular genetic pathology at the University of Pittsburgh Medical Center.
As a genetic epidemiologist and computational biologist Dr. Haines has a track record of performing specialized work. He has extensive experience in all aspects of human genetic studies including clinical ascertainment, statistical and computational analysis, and molecular genetics. He has ascertained and followed thousands of participants in studies of multiple sclerosis, Alzheimer’s disease, autism, and macular degeneration. These cohorts include special populations (Amish) and minority populations (African-Americans).
Dr. Haines has expertise in design/implementation of large-scale clinical studies. He has created and overseen biobanks with >300,000 samples and used the resulting data for extensive genome-wide genotyping and sequencing studies. He has worked extensively with electronic health record (EHR) data to define and refine phenotypes and helped to develop the concept of phenome-wide association studies (PheWAS), which exploits the power of biobanks linked to EHR data. He was one of the founding developers of Vanderbilt's BioVU EHR-linked biobank.
Dr. Haines has been the principal investigator of numerous National Institutes of Health (NIH)-funded initiatives including the eMERGE network coordinating center and experience with several successful investigative collaborations. He is currently leading two national consortia (Alzheimer’s disease and macular degeneration). He is also on the external advisory board for the PhenX project, which aims to standardize phenotypic measures, and the PAGE network, which is aggregating longitudinal epidemiologic cohorts to examine genetic influences on disease, particularly in minority populations.
Dr. Hood graduated from Johns Hopkins University School of Medicine with an MD (1964) and Caltech with a PhD in Biochemistry (1968). He was a senior investigator for three years at the National Institutes of Health. At Caltech, he and colleagues developed the DNA gene sequencer/synthesizer, and the protein synthesizer/sequencer–four instruments that paved the way for the successful mapping of the human genome. A pillar in the biotechnology field, Dr. Hood has played a role in founding 15 biotechnology companies including Amgen, Applied Biosystems, and Integrated Diagnostics. He is a member of the National Academy of Sciences, the National Academy of Engineering, and the Institute of Medicine. Of the more than 6,000 scientists world-wide who belong to one or more of these academies, he is one of only 15 people nominated to all three academies with his endless knowledge and vision in precision medicine.
Dr. Hood has co-authored numerous textbooks in biochemistry, immunology, and genetics, as well as The Code of Ethics, a book on the human genome project. He is currently finishing a text on systems biology. He received 17 honorary degrees from prestigious universities in the U.S. and abroad, published over 750 peer reviewed articles and currently holds 36 patents.
He is the recipient of numerous national and international awards, including the Lasker Award for Studies of Immune Diversity (1987), the Kyoto Prize in advanced technology (2002), the Heinz Award for pioneering work in Systems Biology (2006), and the NAE 2011 Fritz J. and Delores H. Russ Prize for developing automated DNA sequencing.
Dr. Hood received the National Medal of Science from President Obama (2013). He was named by The Best Schools as one of the 50 Most Influential Scientists in the World Today (2014) and Scientific American named him as one of the top six in their selection of 100 biotech visionaries world-wide (2015).
Kathy L. Hudson, Ph.D. is the Deputy Director for Science, Outreach, and Policy at the National Institutes of Health (NIH). Dr. Hudson leads the science policy, legislation, communications, and outreach efforts of the NIH and serves as a senior advisor to the NIH director. She is responsible for creating major new strategic and scientific initiatives for NIH and is currently leading the planning and creation of the President’s Precision Medicine Initiative and the Vice President’s National Cancer Moonshot. Dr. Hudson was a key architect of the National Center for Advancing Translational Sciences and the NIH BRAIN Initiative research cohort. She directs the agency’s efforts to advance biomedical science through policy development and innovative projects and partnerships.
Dr. Hudson’s professional experience includes serving as the Acting Deputy Director of the National Center for Advancing Translational Sciences, NIH; the NIH Chief of Staff; the Assistant Director of the National Human Genome Research Institute, NIH; and the founder and Director of the Genetics and Public Policy Center at John Hopkins University. Also at Hopkins, Dr. Hudson was an Associate Professor in the Berman Institute of Bioethics, Institute of Genetic Medicine, and Department of Pediatrics.
Dr. Hudson holds a Ph.D. in Molecular Biology from the University of California at Berkeley, an M.S. in Microbiology from the University of Chicago, and a B.A. in Biology from Carleton College.
Dr. Johnson graduated from the Ohio State University with a B.S. in Pharmacy and a PharmD from the University of Texas, Austin, and the Health Science Center at San Antonio. She completed a post-doctoral fellowship in cardiovascular pharmacology/pharmacokinetics at Ohio State. She is a board certified pharmacotherapy specialist with added qualifications in cardiology.
Dr. Johnson is a Distinguished Professor of Pharmacy and Medicine and Director of the University of Florida Health Personalized Medicine Program.Her research focuses on cardiovascular pharmacogenomics and genomic medicine. She leads a hypertension pharmacogenomics research group, funded under the National Institutes of Health (NIH) Pharmacogenomics Research Network, and another NIH-funded group in genomic medicine implementation in the NIH IGNITE network. She is an internationally-recognized leader in cardiovascular pharmacogenomics and genomic medicine, with over 240 peer reviewed publications and more than $35 million in research funding as principal investigator.
She served on the FDA Nonprescription Drugs Advisory Committee, the XNDA Study Section at NIH, and in numerous capacities with NIH’s NHLBI. Her leadership roles include the American College of Clinical Pharmacy (ACCP), the American Heart Association (AHA), and the American Society of Clinical Pharmacology and Therapeutics (ASCPT), fwhere she served as president (2016). She is an elected fellow of ACCP, AHA and American College of Clinical Pharmacology.
Dr. Johnson was elected to the National Academy of Medicine (2014). She has received awards from the University of Tennessee (1996) and the University of Florida (2001) for teaching; the Ohio State University Alumni Association William Oxley Thompson Award for early career achievement (1997); Leon I. Goldberg Young Investigator Award from ASCPT (2004); Paul Dawson Biotechnology Research Award (2007), Therapeutic Frontiers Award (2009) and Russell R. Miller Award for Contributions to the Literature (2010) from ACCP; and the Southeastern Universities Research Association Distinguished Scientist Award (2015); among others.
Justin is a Co-Founder and Senior Vice President of Corporate Development, Operations, and Strategy at Helix, a consumer genomics company that is focused on empowering every person to discover insights into his or her own DNA through an ecosystem of high-quality content partners. Helix handles sample collection, sequencing, and data storage so that its partners are free to focus on incorporating genomic insights into innovative consumer products.
Prior to Helix, Justin was a Vice President in the healthcare group at Warburg Pincus, a global private equity firm focused on growth investing. He also spent time at the Boston Consulting Group and Onyx Pharmaceuticals. Justin holds a B.S. in Chemical Engineering and a M.S. in Bioengineering from Stanford University. He also received a J.D. from Stanford Law School and a M.B.A. from Stanford Graduate School of Business, where he was an Arjay Miller Scholar.Co-Founder, Senior Vice President of Corporate Development, Operations, and Strategy. Helix
Dr. Manolio directs the Division of Genomic Medicine of the National Human Genome Research Institute (NHGRI), where she leads programs to develop and implement genomic applications in clinical care. She came to NHGRI from the National Heart, Lung, and Blood Institute where she was heavily involved in large-scale cohort studies such as the Cardiovascular Health Study, the Framingham Heart Study, and the Multi-Ethnic Study of Atherosclerosis. She moved to NHGRI in 2005 to lead efforts in applying genomic technologies to population research, including the Genes, Environment, and Health Initiative (GEI), the Electronic Medical Records and Genetics (eMERGE) Network, the NHGRI Genome-Wide Association Catalog, the Implementing Genomics in Practice (IGNIITE) Network, and the Clinical Genome (ClinGen) Resource. She continues to practice and teach medicine on the internal medicine service of the Walter Reed National Military Medical Center in Bethesda, and is a professor of medicine at the F. Edward Hebert School of Medicine of the Uniformed Services University of the Health Sciences. She is the author of over 270 original research reports and papers and has research interests in genome-wide association studies of complex diseases, ethnic differences in disease risk, integrating genomic research into electronic medical records, and incorporating genomic findings into clinical care.
Dr. Manolio received her M.D. from the University of Maryland and did her internal medicine residency at Boston City Hospital. She was chief resident of the Georgetown Service at D.C. General Hospital and a fellow in general internal medicine at Johns Hopkins University, where she earned a Master of Health Sciences degree in epidemiology. She later returned to Hopkins to complete a Ph.D. in human genetics/genetic epidemiology.
Dr. Scherer graduated with a PhD from the University of Toronto under Professor Lap-chee Tsui. Together they founded Canada's first human genome centre, the Centre for Applied Genomics (TCAG) at the Hospital for Sick Children. He continues to serve as Director of TCAG, and is also Director of the McLaughlin Centre at the University of Toronto Faculty of Medicine.
Dr. Scherer holds the GlaxoSmithKline-Canadian Institutes of Health Research Endowed Chair in Genome Sciences at The Hospital for Sick Children (SickKids) and the University of Toronto (U of T).
His group contributed to the discovery of global gene copy number variation (CNV) as a common form of genetic variation in human DNA. They also identified CNV to contribute to the aetiology of autism and many other disorders. Dr. Scherer founded The Database of Genomic Variants which facilitates hundreds of thousands of clinical diagnoses each year.
Dr. Scherer's research is documented in over 450 publications and he is one of the most highly cited scientists in the world. Dr. Scherer has won numerous honors such as the Steacie Prize, a Howard Hughes Medical Institute Scholarship, and the Premier's Summit Award for Medical Research.
He is a distinguished Fellow of the Canadian Institute for Advanced Research, the American Association for the Advancement of Science, and the Royal Society of Canada
In 2014, he was selected as a Thomson Reuters Citation Laureate in the field of Physiology or Medicine for "The Discovery of Large-Scale CNV and its Association with Specific Diseases".
Dr. Summar is well-known for his pioneering work in caring for children diagnosed with rare diseases. He joined Children’s National in 2010 from Vanderbilt University. At Children’s National he leads the Division of Genetics and Metabolism, currently the largest clinical division in the world seeing over 7,500 patients a year with rare diseases. Dr. Summar’s laboratory works on both devices and treatments for patients with genetic diseases and adapting knowledge from rare diseases to mainstream medicine. His work has resulted in new drugs in FDA trials for patients with congenital heart disease and premature birth. He has over 30 patents and patent applications. His laboratory is best known for its work in the rare diseases affecting nitrogen and ammonia metabolism. Dr. Summar has also organized and led a large number of international work groups to develop standards of care and treatment for rare diseases resulting in significant improvements in outcomes. Dr. Summar developed a program with the National Institutes of Health (NIH) where very young children can benefit from NIH research programs at Children’s National. Dr. Summar is board-certified in Pediatrics, Clinical Genetics, and Biochemical Genetics and has been listed with Best Doctor’s in America since 2004. He serves on the board of directors of the National Organization of Rare Diseases (Treasurer) and the Society of Inherited Metabolic Diseases (President). He directs the National Organization of Rare Diseases Scientific and Medical Advisory Committee and is spearheading an effort to develop national standards for families to collect information about poorly understood rare diseases affecting 25 million Americans. He is very active in newborn screening issues developing testing and follow-up systems.
Arjun Prasanna Athreya is a doctoral candidate in the department of Electrical and Computer Engineering at the Univ. Illinois at Urbana-Champaign, advised by Prof. Ravishankar K. Iyer in the DEPEND laboratory at the Coordinated Science Laboratory. His research interests are in developing and applying statistical methods on clinical and biological big data to bring predictability in clinical therapeutics to enable precision medicine. Arjun is a Fellow of the National Center for Supercomputing Applications and CompGen, and collaborates with Prof. Derek Wildman, Carl R. Woese Institute of Genomic Biology, Drs. Richard Weinshilboum, Liewei Wang and Rani Kalari of Mayo Clinic and Drs. Kee-Yuan Ngiam and C. N. Lee, National University Hospital, Singapore in his multi-disciplinary research under the CompGen Initiative and Mayo-Illinois Alliance. Arjun received his MS in ECE from Carnegie Mellon University, with interests in networks and system security.
Dr. Atwal is a clinical and medical biochemical geneticist and medical director of the center for individualized medicine on the Jacksonville campus, having joined the Mayo Clinic in August 2015. He received his medical degree from the University of Glasgow in 2003 and initially trained in hospital internal medicine with The Royal College of Physicians at Glasgow Royal Infirmary in Scotland. He did his genetics fellowship at Stanford University in Palo Alto CA and subspecialty biochemical genetics fellowship at Baylor College of Medicine in Houston TX where he was involved in developing a clinical metabolomic profiling test. In addition he holds diplomas in structural molecular biology and forensic medical science and awards include the 2014-2015 ACMG Foundation/Genzyme Fellowship in Biochemical Genetics Award and The Neurobiology of Disease in Children Young Investigator Award.
He has a long standing interest in rare and undiagnosed disease including the use of multiple concurrent –omics platforms to provide a diagnosis to patients. Dr. Atwal’s clinical interests include medical genetics, undiagnosed diseases following lengthy diagnostic odysseys and inborn errors of metabolism including mitochondrial diseases.
Dr. Eric Battaglioli is a Postdoctoral Research Fellow in the Department of Gastroenterology and Hepatology and has worked in the Laboratory of Dr. Purna Kashyap as part of the Microbiome program since 2015. The Kashyap lab is focused on investigating the effects of the microbiome on functional gastrointestinal disorders and colonization by enteric pathogens. Dr. Battaglioli's research aims are to use germ free mice to model human microbial communities and assess the effect of natural variation in human microbiome structure and function on colonization of the opportunistic enteric pathogen Clostridium difficile.
Dr. Battaglioli received his Bachelor’s Degree in Molecular Biology from Colgate University in 2007, completed a 1-year Emerging Infectious Diseases Fellowship sponsored by the Center for Disease Control and Prevention in 2008, and his Ph.D. in Microbiology from the University of Wisconsin-Madison in 2013.
Dr. Baudhuin is Associate Professor of Laboratory Medicine and Pathology at Mayo Clinicand is co-director of the Personalized Genomics Laboratory, the Clinical Genome Sequencing Laboratory, and the Cardiovascular Laboratory at Mayo Clinic. Dr. Baudhuin received her Ph.D. in Clinical Chemistry from Cleveland State University in conjunction with the Cleveland Clinic. She then completed fellowships in Clinical Chemistry and Clinical Molecular Genetics at Mayo Clinic. She is board certified in Clinical Molecular Genetics by the American Board of Medical Genetics and Genomics. Dr. Baudhuin’s clinical and research interests are related to Personalized Medicine and lie primarily in the areas of cardiovascular-related inherited disorders, pharmacogenomics, and next-generation sequencing.
Dr. Bauer is a Principal Investigator and staff physician at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, where he is the Associate Director of the Thalassemia Program. He is also an Assistant Professor of Pediatrics at Harvard Medical School, Principal Faculty at the Harvard Stem Cell Institute, and Associate Member of the Broad Institute.
As a physician-scientist his research integrates genetic, epigenetic, and functional genomic methodologies to understand the determinants of blood cell development and develop innovative therapeutic strategies for blood disorders. By comparing common trait-associated genetic variation with epigenetic modification of primary human erythroid precursors, and applying genome editing technology, he identified an erythroid enhancer element of the BCL11A gene that is a critical determinant of fetal hemoglobin level and a potential therapeutic target for the β-hemoglobin disorders. His laboratory has developed techniques to perform genome editing using CRISPR-Cas9 RNA-guided endonucleases in hematopoietic cells. He has developed a method termed Cas9-mediated in situ saturating mutagenesis to determine at high-throughput and high-resolution the function of non-coding elements in their native chromosomal setting. Dr. Bauer’s clinical work in pediatric hematology focuses on the care of patients with hemoglobin disorders.
Dr. Bauer received his B.S. in Biology from Brown University and M.D.-Ph.D. from the University of Pennsylvania. He completed clinical training in Pediatrics and Pediatric Hematology/Oncology at Boston Children’s Hospital and Dana-Farber Cancer Institute. where he is Associate Director of the. He has received awards including the Young Physician-Scientist Award of the American Society for Clinical Investigation Council, Junior Faculty Scholar Award of the American Society of Hematology, and Career Award for Medical Scientists from the Burroughs Wellcome Fund.
Professor Bennett has over 32 years of experience as the Senior Genetic Counselor and Co-Director for the Genetic Medicine Clinic at the University of Washington (UW) Medical Center (http://depts.washington.edu/medgen/) and Clinical Professor in the Division of Medical Genetics in the UW Department of Medicine.
Her many honors including an honorary Doctor of Science from Kenyon College, NSGC Natalie Paul Lifetime achievement award, University of Washington Distinguished Staff Award, Genetic Alliance Art of Listening, Master Genetic Counselor Designation from the Jane Engelberg Memorial Foundation of the NSGC, Outstanding Patient Education from the UW Medical Center, Distinguished Faculty of the UW Department of Medicine, and Women to Celebrate from the Seattle Times, ACT and the YWCA.
She has been a forerunner in the development of genetic counseling practice recommendations including developing criterion for pedigree nomenclature that are now the international standard. Her work on developing genetic counseling practice guidelines for consanguinity received world-wide acclaim. She has extensive publications related to her work in translation of new genetic technologies to clinical care, Huntington disease, consanguinity, neurogenetics, cancer genetics, inborn errors of metabolism, genetic family history, and ethical issues in genetic counseling and genetic testing. She has authored two books including the recent release, The Practical Guide to the Genetic Family History.
In leadership roles, Professor Bennett is a Past-President of the NSGC and was on the founding Board as President of the Accreditation Council for Genetic Counseling (ACGC). She is certified in genetic counseling by the American Board of Medical Genetics and is a founding Diplomat of the American Board of Genetic Counseling.
Dr. Boczek is a Clinical Molecular Genetics Fellow in the Department of Laboratory Medicine and Pathology at the Mayo Clinic. She received her B.A. in Biology from St. Olaf College and received her Ph.D. in Clinical and Translational Science from Mayo Graduate School.
Dr. Boczek's graduate work focused on the genetic and molecular basis of cardiac channelopathies. Utilizing whole exome sequencing in combination with functional characterization including patch clamp technique, she identified novel pathogenic variants within the CACNA1C-encoded cardiac L-type calcium channel leading to long QT syndrome and Timothy syndrome. In addition, these techniques were utilized to describe a novel cardiac channelopathy syndrome caused by variants in the CACNA1C gene.
Dr. Boczek’s postdoctoral fellowship in the Center for Individualized Medicine at Mayo Clinic focused on functional validation of novel variants of uncertain significance in diagnostic odyssey patients at Mayo Clinic using a variety of laboratory and bioinformatic techniques. Throughout her postdoctoral fellowship, Dr. Boczek explored novel techniques that aided in patient diagnosis as well as identified novel genetic causes of disease.
Currently, Dr. Boczek is a Clinical Molecular Genetics Fellow at Mayo Clinic, focused on learning techniques and laboratory practices associated with clinical molecular genetics. She focuses her efforts on next generation sequencing and whole exome sequencing.
Dr. Boczek's honors include a Young Investigator Award from the Heart Rhythm Society in 2014 and the Courts K. Cleveland SADS Foundation Young Investigator Award in Basic Science in 2012 and 2014. In addition, her graduate work was supported by an American Heart Association Predoctoral Fellowship.
Dr. Bryce is a consultant in the Division of Hematology and Oncology, Department of Internal Medicine at Mayo Clinic in Arizona and serves as vice chair and practice chair of the division. He currently serves as medical director of the Genomic Oncology Clinic at Mayo Clinic in Arizona. He holds the academic rank of assistant professor of medicine, Mayo Clinic College of Medicine. He joined the staff of Mayo Clinic in 2011.
Dr. Bryce earned his B.S. degree in biochemistry at University of California, Los Angeles, and his M.D. degree at Finch University of Health Sciences, Chicago Medical School. He completed a residency in internal medicine and a fellowship and chief fellowship in hematology/oncology at Mayo Graduate School of Medicine.
Dr. Bryce's research centers on understanding the genetic mutations of individual cancer cells in order to allow for a precise, targeted treatment strategy. The ultimate goal is for every patient to have their tumor biopsied and sequenced, resulting in a personalized treatment plan. In his leadership role with the Genomic Oncology Clinic, he utilizes whole genome sequencing of tumors to identify key driver mutations. This approach allows for precise targeting of a patient's tumor, leading to a greater chance of remission. Dr. Bryce participates in community outreach to underserved populations and has in interest in health disparities research. He has authored numerous journal articles, abstracts and other written publications.
Dr. Bryce has received numerous awards and honors, including the Excellence in Teaching Recognition Award, conferred by Mayo Medical School, Mayo Clinic College of Medicine; the Young Investigator Award, conferred by the American Journal of Hematology; the Oncology Scholar in Training Award, conferred by the American Association of Cancer Research, Bristol-Myers Squibb; and the Outstanding Trainee Award, conferred by the Hematology/Oncology Fellowship Program, Mayo Clinic.
Dr. Caudle is the Clinical Pharmacogenetics Implementation Consortium (CPIC) coordinator at St. Jude Children's Research Hospital. CPIC provides guidelines that enable the translation of genetic laboratory test results into actionable prescribing decisions for specific drugs. To date, CPIC has published 19 gene-based clinical guidelines. In this position, Dr. Caudle oversees the CPIC guideline development process including the coordination of the guideline writing committees, the guideline evidence reviews, and the writing of the guideline manuscript and supplement. In addition, Dr. Caudle is involved in the clinical implementation of pharmacogenetics at St. Jude Children's Research Hospital.
Prior to her current position, Dr. Caudle was an Assistant Professor at the James L. Winkle College of Pharmacy, University of Cincinnati and Research Pharmacist at Cincinnati Children’s Hospital Medical Center.
Dr. Caudle received her Pharm.D. and Ph.D. from The University of Tennessee Health Science Center and completed an ASHP-accredited PGY2 residency at Le Bonheur Children’s Research Hospital. She is also a board‐certified Pharmacotherapy Specialist. Dr. Caudle is currently an affiliate Assistant Professor at The University of Tennessee Health Science Center.
Dr. Chopra is a physician-scientist at Baylor College of Medicine with clinical expertise in Medical Genetics with research expertise in the field of energy homeostasis and metabolic disease. Through the assessment of humans with genetic defects in the processing of energy, we are able to identify new genes and pathways that have escaped attention so far. This not only benefits patients but also allows us to take the discovery into the lab and focus on filling in the gap from the gene to the phenotype. The overarching aim is to help one patient at a time but also a broader swath of humanity via advancing medical knowledge and developing novel therapeutics.
Karl Clark is an Assistant Professor at Mayo Clinic in Rochester, MN, and director of the Functional Validation Core within the Functional Validation Center at the Center for Individualized Medicine. Dr. Clark and team of researchers and clinicians functionally test variants of unknown significance (VUS) observed in patient genomes that may contribute to disease. Dr. Clark’s research laboratory deploys zebrafish, a vertebrate model organism with genetic tractability, to study the vertebrate stress response system, a diverse suite of neuronal, endocrine and autonomic response mechanisms that play key roles in environmental interactions. The clinical significance of stress-aggravated disorders is high, but the molecular nature of how stress contributes to disease are largely unknown. Stress and the stress response system’s role in disease progression depends on heritable genetic factors, life-priming events, and later life stressors that may trigger disease onset. Dr. Clark's research goals are to contribute to better understanding of the development of the stress response system, how it impacts patient health, and how it can be modulated for the benefit of patients.
Dr. Clark earned his Bachelor of Science from the University of Wisconsin- Eau Claire in Biochemistry and Molecular Biology. He attended graduate school at the University of Minnesota, where he trained with Perry Hackett, PhD and helped develop the Sleeping Beauty transposon system, earning his PhD from the Molecular, Cellular, Developmental Biology, and Genetics program. Dr. Clark worked at Discovery Genomics, Inc., a gene therapy startup in Minneapolis, Minn., before returning to the University of Minnesota for post-doctoral training in the laboratory of Scott Fahrenkrug, PhD There he helped improve genome engineering applications in livestock that contributed to starting Recombinetics, Inc., a livestock genome-editing company. He moved to Rochester to work and train with Stephen Ekker, PhD at Mayo Clinic before starting his own laboratory.
Dr. Rita R. Colwell is a Distinguished University Professor at the University of Maryland, College Park and Johns Hopkins University Bloomberg School of Public Health and Chairman and Chief Science Officer, CosmosID, Inc. Her interests are focused on genomics, biodiversity, and molecular microbial systematics and ecology. Dr. Colwell is an honorary member of the microbiological societies of the UK, Australia, France, Israel, Bangladesh, India and the U.S. Dr. Colwell served as the 11th Director of the National Science Foundation from 1998 to 2004. She has authored/co-authored 19 books and over 700 scientific publications. She is a member of the National Academy of Science and has been awarded the Stockholm Water Prize, Order of the Rising Sun, Japan, and the US National Medal of Science.
Brad T. Cookson, M.D., Ph.D., is Professor of Laboratory Medicine and Microbiology at the University of Washington. He is the Executive Vice Chair of Laboratory Medicine, Vice Chair of Clinical Operations and Head of the Clinical Microbiology Division. He strives for collaborative excellence in clinical service, research, education, innovation, entrepreneurship and leadership with the goal of improving our ability to diagnose disease, design effective treatments and provide the best value and the highest quality outcomes for patients. As a physician scientist, he uses the latest technologies to: 1) diagnose infectious diseases, 2) understand how pathogens cause infection and 3) understand the cellular basis of inflammation.
Dr. Crosby is the Director of Alliances in the Department of Genetics at Washington University. He has been at Washington University for nearly 12 years. During that time he directed the Department of Genetics Microarray Core, which is now part of clinical/research facility Genome Technology Access Center (GTAC) and then GTAC, itself, during its formation and early operation. Prior to that, he was the Director of Translational Research at the Genome Center (now the McDonnell Genome Institute). Prior to his tenure at Washington University, Dr. Crosby worked in the field of genomics and drug discovery at Abbott Laboratories, Pfizer and Pharmacia.
KDr. Cuppen is professor of Human Genetics, manager Research and Education of the Division of Biomedical Genetics and director of the Center for Molecular Medicine at the University Medical Center Utrecht in The Netherlands. He is also the director of a national large scale sequencing center, the Hartwig Medical Foundation, in Amsterdam.
Dr. Cuppen is an expert in DNA sequencing and applies next-generation sequencing for both research and diagnostic purposes. He is a pioneer in personalized genomics, carrying his genome not only in his own cells, but also on his iPad.
In 2005, Dr. Cuppen received a European Young Investigators Award and in 2013, he was awarded a prestigious NWO Vici grant for dissecting the molecular mechanisms behind and functional consequences of structural variation in genomes. In his current work he combines experimental methods, including next-generation DNA sequencing technology and other -omics techniques, with patient cohort and cellular model systems and integrative bioinformatic approaches to understand the induction and the effects of genetic variation under normal and disease conditions like cancer and congenital disease.
Dr. Cuppen is also one of the initiators of the nationally operating Center for Personalized Cancer Treatment (CPCT), for which he heads the centralized genome analysis and bioinformatic data integration efforts. This national collaboration aims for the stratification of cancer patients towards targeted treatments based on DNA measurements of the tumor. CPCT, in close collaboration with the Hartwig Medical Foundation, aims to bring these developments to all cancer patients in The Netherlands in a timely and responsible manner.
Dr. Curry is the Director of the Education Program of the Mayo Clinic Center for Individualized Medicine. A clinical anesthesiologist, he and his team are helping provide the education to support the translation of individualized medicine and develop the next generation of researchers and clinicians in personalized medicine.
Dr. Vera Deneer is a hospital pharmacist-clinical pharmacologist and head of the Pharmacogenetics, Pharmaceutical and Toxicological Laboratory of the Department of Clinical Pharmacy at St. Antonius Hospital in Nieuwegein / Utrecht, The Netherlands . She is chair of the Dutch Pharmacogenetics Working Group (DPWG) of the Royal Dutch Association for the Advancement of Pharmacy (KNMP) and a member of the Medicines Evaluation Board (CBG-MEB). She serves, either as chair or member, on several national and hospital committees in the field of pharmacotherapy, innovation and medical research. Within the hospital she has clinical responsibilities in cardiology and pulmonology, including lung cancer.
She received a Pharm.D from Utrecht University in 1991 and a Ph.D at Groningen University in 2003. Her Ph.D research project was on pharmacology and pharmacokinetics of antiarrhythmic drugs in atrial fibrillation. She completed clinical training in Hospital Pharmacy followed by Clinical Pharmacology at St. Antonius Hospital in 1998.
Dr. Deneer’s clinical interest is the implementation of pharmacogenetics in daily clinical practice. Her research focuses on precision medicine primarily on the pharmacogenetics in acute coronary syndrome, interstitial lung disease and lung cancer. She is the principal investigator of several research projects funded by The Netherlands Organization for Health Research and Development.
Bernard Esquivel, M.D.,M.S., M.H.A.,is a specialist in Clinical Immunology and Allergies certified member of the American College of Allergy, Asthma and Immunology (ACAAI), as well as the European Academy of Allergy and Clinical Immunology (EAACI). He received his medical training at the National Autonomous University of Mexico (UNAM), followed by a Masters in Medical Genetics from the University of Valencia (Spain) and a Masters in Health Administration. He cofounded and has served as president of the Latin American Association for Personalized Medicine (ALAMP) since 2014. He established the first integral genetic services company in Mexico: Total Quality Medicine and in 2016 opened the first precision medicine clinic in Mexico, Genomedik.
Dr. Freimuth's research program centers on developing standards-based knowledge representation schemas for the pharmacogenomics domain, including gene-drug interactions and clinical recommendations that are used in decision support algorithms. The goal of his research is to help realize the promise of precision medicine through the development of interoperable systems that provide caregivers with genomic clinical decision support (CDS) at the point of care. He is accomplishing this by developing computational methods, tools and infrastructure that facilitate the translation of genomic data to clinical practice.
Dr. Freimuth is an active member of the National Institutes of Health (NIH) Pharmacogenomics Research Network (PGRN). He is PI of the PGRN Pharmacogenomics Ontology network resource, which aims to create standardized representations for pharmacogenomics data. He Chairs the Data Standardization Work Group within the PGRN Translational Pharmacogenetics Program and he is co-Chair of the Clinical Pharmacogenetics Implementation Consortium (CPIC) Informatics Work Group. Dr. Freimuth participates in many other research networks and standards development initiatives, including eMERGE, ClinGen, HL7 Clinical Genomics, W3C Healthcare and Life Sciences, and the ONC Standards & Interoperability Framework. He recently completed two terms as Chair of the AMIA Genomics and Translational Bioinformatics Working Group, and continues to serve that community through the role of Past-Chair.
Dr. Freimuth is an Assistant Professor of Biomedical Informatics in the Department of Health Sciences Research, Mayo Clinic. He earned a Ph.D. in Molecular Pharmacology from Mayo Graduate School, where he studied the pharmacogenomics and functional genomics of drug metabolizing genes. He completed a postdoctoral fellowship in the Division of Molecular Oncology at Washington University, where he developed a bioinformatics pipeline for the annotation of genomic variants. Prior to his current position, he worked in the Siteman Cancer Center Bioinformatics Core at Washington University as a scientific domain expert for software development projects.
Axel Grothey, M.D., is a consultant in the Division of Medical Oncology, Department of Oncology, at Mayo Clinic. He holds the academic rank of professor of oncology and has teaching/examining privileges in Clinical & Translational Science at Mayo Graduate School. He is a member of Mayo Clinic’s Cancer Center.
Dr. Grothey received his medical degree at Ruhr-Universitat Bochum, Germany, and completed residencies at West-German Tumorcenter and the Institute of Pathology at the University of Essen and a residency and fellowship at the University of Bochum. He also completed a research fellowship at MD Cancer Center at the University of Texas. He joined Mayo Clinic as a consultant in 2005.
Dr. Grothey’s clinical interests focus on gastrointestinal cancers, in particular, colorectal cancer, anti-angiogenesis, signal transduction inhibitors, and clinical trial design and statistics. As a consultant and investigator, his research has been funded by the National Cancer Institute (NCI) and the National Institutes of Health, among other organizations. He currently chairs the NCI colon cancer task force, and serves as vice-chair of the gastrointestinal cancer committee of the Alliance for Clinical Trials in Oncology, an NCI-funded cooperative group. He is also chair of the Academic and Community Cancer Research United (ACCRU) international research network.
He currently holds professional positions in the Association of German Internists, German Cancer Association, Working Group of Experimental Cancer Research in Germany, American Association for Cancer Research, European Association for Cancer Research, American Society for Cell Biology, MD Anderson Associates, American Society of Clinical Oncology, European Society for Medical Oncology, German Association for Internal Oncology and the Minnesota Medical Association. He also has served in various leadership positions at Mayo Clinic Cancer Center.
Dr. Grothey serves in journal review and editorial activities for numerous medical journals and is editor for Clinical Colorectal Cancer, Emerging Cancer Therapeutics, OncologySTAT, and Therapeutic Advances in Medical Oncology. In educational activities, he has served as a teacher, and he is a five-time recipient of Teacher of the Year recognition at Mayo Clinic. Dr. Grothey has given numerous international, national and regional presentation, as well as invited and visiting professor presentations. He has co-authored more than 250 articles, books, book chapters, editorials, abstracts and letters.
Dr. Hale is a postdoctoral research fellow in the Microbiome Program at Mayo Clinic. Her research explores dynamics of the gut microbiome in relation to host health. Her dissertation research at Purdue University focused on gut microbiota and gut health in wild and captive leaf-eating monkeys. Currently, her work focuses on defining host-microbe-metabolite interactions and elucidating the role of the microbial community in colorectal cancer and Clostridium difficile infection.
Louanne Hudgins, M.D., is Professor of Pediatrics in the Division of Medical Genetics at Stanford School of Medicine. She received her bachelor’s degree and medical degree from the University of Kansas, and completed her internship and residency in Pediatrics as well as her fellowship in Human Genetics at the University of Connecticut. She is board certified in Clinical Genetics by the American Board of Medical Genetics. Dr. Hudgins was on the faculty at the University of Arizona and the University of Washington before moving to Stanford in 1999. Clinically, she provides pediatric and adult genetic evaluations, and is the Director of the Perinatal Genetics service at Lucile Packard Children’s Hospital Stanford.
Dr. Hudgins has been active in the American College of Medical Genetics serving on the Board of Directors, as Vice President of Clinical Genetics, and as co-chair of the Professional Practice and Guidelines Committee. She is currently President-Elect. She is also an active member of the American Society of Human Genetics, the Western Society for Pediatric Research, and several regional, state and local genetics groups. She has volunteered with the March of Dimes, and is a member of the Kabuki Syndrome Network Professional Advisory Group. Dr. Hudgins has authored over 100 journal articles and book chapters, edited the textbook Signs and Symptoms of Genetic Conditions: A Handbook, and has given hundreds of presentations on various aspects of genetics and genetic counseling. Her research interests include syndrome delineation, gene discovery for "unknown" genetic disorders, and noninvasive prenatal genetic screening and diagnosis.
Dr. Hulick is a medical geneticist and Division Head of the Center for Medical Genetics at NorthShore University HealthSystem. He has an appointment of Clinical Assistant Professor at the Pritzker School of Medicine, University of Chicago.
He completed his clinical medical genetics residency at Harvard Medical School where his clinical concentrations included connective tissue diseases such as Marfan syndrome and Ehlers-Danlos syndrome while also maintaining a general genetics clinic. His research during his Harvard genetics training consisted of identifying potential biomarkers of kidney cancer through gene expression profiling of tumor cell lines and the development of a clinical assay to detect kidney cancer at an early stage. He also studied the biological function of the folliculin gene product which, when mutated, causes the kidney cancer predisposition syndrome Birt-Hogg-Dube. During his medical genetics residency, he graduated with a masters in medical science degree from the Harvard Medical Scholars in Clinical Science program which trains individuals for careers in clinical research.
Dr. Hulick received his undergraduate degree in biology from Northwestern University in Evanston, IL and his medical degree from Jefferson Medical College, in Philadelphia, PA. He completed an internal medicine residency at Mayo Clinic, Jacksonville, FL before pursuing his clinical medical genetics training in Boston.
Current clinical interests, in addition to general genetic syndromes, include pharmacogenetics, cardiovascular and cancer genetics, and the integration of genomic information into the healthcare system. Current research activities include studies that identify and measure the influences of our genes on health and how to effectively manage these risks. He is also active in leading efforts to incorporate genomic information and testing into the NorthShore University HealthSystem.
Dr. Mahim Jain MD, PhD is a member of the Osteogenesis Imperfecta Clinic at Kennedy Krieger Institute, Assistant Professor, Department of Pediatrics, Johns Hopkins University, Clinical Director of the Statistical Genetics Program in the Medical Genetics Branch of NHGRI and Co-Lead of the Balor College of Medicine Clinical Site of the Undiagnosed Diseases Network Sequence Analysis Group. Dr. Jain received his bachelor’s degree from The University of Notre Dame, graduating summa cum laude in biochemistry. He completed his medical school at Indiana University School of Medicine and completed a Ph.D. from The University of Oxford, focused on using statistical and computational methods to identify genetic variants that contribute to both rare and complex human traits. During that time he was a Howard-Hughes Medical Institute-National Institutes of Health Research Scholar and a National Institutes of Health-Oxford Biomedical Scholar. He completed his clinical residency at Baylor College of Medicine in the combined pediatrics and genetics residency program. During training he was involved in clinical research efforts focused on studying clinically-relevant outcomes in a large multi-center cohort of patients with osteogenesis imperfecta. He also gained skills in the evaluation of next-generation sequencing data and is currently the Co-lead of the Baylor College of Medicine Clinical Site of the Undiagnosed Diseases Network Sequence Analysis Group.
Dr. Jenkins has focused his professional career on cancer genetics, particularly elucidation of the genetic events important for cancer initiation and progression. His cancer genetics efforts have encompassed both basic genetic investigations as well as clinical translation of those basic genetic observations. His primary interest has been centered on the genetics of gliomas, where both his basic genetic studies and clinical translation activities have had a major impact on neuro-oncology. As a part of his research, his lab has worked in other areas of neuro-oncology as well. For example, his lab discovered that 1p/19q codeletion is associated with tumors of olidogendroglial lineage and predicts response to chemotherapy and radiation therapy and then designed a FISH test that is used world-wide to test for these deletions. In addition, his lab developed carrier peptides to deliver proteins and small molecules across the blood-brain barrier (BBB). This technology has been licensed by several drug companies and is showing evidence of success for the treatment of neurologic disorders. Along with Genome Diagnostics Inc., his lab developed an expression profiling test that predicts which men with prostate cancer are likely to develop clinical progression. This test is now included in the NCCN prostate cancer diagnostic guidelines. During his concurrent CIM conference session, he will be discussing the development of mate-pair NGS for use as a clinical cytogenetics test.
Dr. Kashyap is an Assistant Professor of Medicine and Physiology, as well as a consultant in the Department Gastroenterology and Hepatology. His research program aims to better understand the pathogenesis of functional gastrointestinal disorders and develop newer treatment options for patients. The current understanding of the disease process remains poor, and as a result treatment options are very limited and fail to address the underlying causes. His team hopes to extend this knowledge to address other diseases associated with changes in human gut bacteria such as C. difficile colitis and obesity.
The human gastrointestinal (GI) tract harbors 100 trillion microbes that live in harmony with their human host and perform processes vital for health. Changes in the normal gut microbiota have been associated with a number of disease states with changes in gastrointestinal (GI) motility, such as irritable bowel syndrome and Clostridium difficile colitis. Dr. Kashyap’s laboratory primarily focuses on the influence of gut bacteria on gastrointestinal physiology by modulating host pathways such as the serotonergic system. We use targeted and non-targeted metabolomics, transcriptomics, and genomics in combination with gnotobiotic mouse models to help identify novel bacterial taxa and microbial metabolites which affect the key players involved in gastrointestinal motility, secretion and sensation. In order to better understand the role of human derived gut microbes his research team uses the humanized mouse model where we colonize germ free mice with human derived bacteria to allow us to more effectively translate our findings and develop targeted therapies for humans. They have recently described the role of gut microbiota derived short chain fatty acids in increasing serotonin biosynthesis and release using these methods. The long-term goal of our research is to develop new biomarkers and microbiota-targeted therapies for treatment of functional gastrointestinal disorders, including irritable bowel syndrome.They are interested in engineering commensal gut bacteria to produce a metabolite of interest, which will help overcome deficiencies in the current approach of probiotics.
Dr. Eric Klee is an Assistant Professor of Medical Informatics and Bioinformatics Program faculty member in the Department of Health Sciences Research, and has been at Mayo Clinic since 2005. Dr. Klee is Director of Bioinformatics of Mayo Clinic’s Clinical Genome Sequencing Laboratory and member of the Department of Laboratory Medicine and Pathology, a position held since 2012. Dr. Klee is also the Associate Director of Mayo Clinic’s Center for Individualized Medicine Bioinformatics Program and has directed the Individualized Medicine Bioinformatics team since 2012.
Dr. Klee earned his Bachelors of Science degree in Electrical Engineering at Iowa State University in 1997, obtained a Master of Science degree in Health Informatics with focus in Bioinformatics at the University of Minnesota, Minneapolis. He completed his Ph.D .in Health Informatics and Bioinformatics in the University of Minnesota, Minneapolis, in 2005.
Dr. Klee’s research is focused on the application of next generation sequencing for clinical testing and diagnostics. His work includes the translation of emerging bioinformatics methods from the research domain into clinical practice. He is actively involved in the in development and implementation of systems to support sequence analysis and interpretation in the context of individualized, precision medicine. Dr. Klee also leads a functional validation program that uses experimental techniques to better characterize the putative role of variants of uncertain significance in the context of patient-specific disease state.
Jennifer Kemppainen, Certified Genetic Counselor, serves as the genetic counseling supervisor in the Department of Clinical Genomics at Mayo Clinic. She is involved in the coordination of hereditary cancer testing, whole exome sequencing and neurogenetic evaluations. Her primary clinical interests include the evaluation and care coordination of patients with neurogenetic disorders including Huntington’s disease, Friedreich Ataxia, and mitochondrial disease. Jennifer has worked as a genetic counselor for over five years. She is also actively involved in education as an instructor for the Mayo College of Medicine working with medical students, residents, genetic counseling students and other health care professionals.
Ms. Kruisselbrink is Genetic Counselor Supervisor in the Mayo Clinic Center for Individualized Medicine. She began her career in 1997 at Mayo Clinic by establishing the role of the laboratory based genetic counselor in Molecular Genetics, Biochemical Genetics, Cytogenetics and Maternal Serum Screening. She has provided genetic counseling in Medical Genetics, neurology, obstetrics, cardiology and outreach clinics. She contributes to numerous educational programs including Mayo Medical School, Graduate School, and fellowship and residency programs in the laboratory and clinical environments. She is also actively involved in mentoring high school and college students wishing to pursue a career in genetic counseling. Ms. Kruisselbrinkreceived her B.S. in Molecular, Cellular, Developmental Biology and Genetics and M.S. in Genetic Counseling from the University of Minnesota. She is an Instructor of Laboratory Medicine and Pathology.
Brendan Lanpher, MD, is an Assistant Professor in the College of Medicine and physician in the Department of Clinical Genomics at the Mayo Clinic in Rochester, MN. His clinical interests include inborn errors of metabolism and dysmorphic syndromes. Dr. Lanpher has been a clinical geneticist for 10 years and has been on the faculty at the Mayo Clinic for one year. He has been active in overseeing newborn screening activities in multiple states and as an advisor to newborn screening programs internationally.
Dr. Lazaridis is a Professor of Medicine and a Consultant in the Division of Gastroenterology and Hepatology at Mayo Clinic College of Medicine.
He received his medical degree at the University of Ioannina in Greece. He completed his Internal Medicine and Gastroenterology fellowship training at Mayo Clinic and was a Mayo Clinic Scholar in Genomics in the laboratory of Francis Collins, M.D., Ph.D., at the National Human Genome Research Institute.
Dr. Lazaridis is considered a leader in the area of the genomics of chronic cholestatic liver diseases, namely, Primary Biliary Cirrhosis (PBC) and Primary Sclerosing Cholangitis (PSC). Since 2003, he has established and is the principal investigator of the two national consortia for studying patients afflicted with these diseases. His research group applies the latest genomic and genetic epidemiology approaches to better understand the pathogenesis and improve the therapy of patients with PBC and PSC. This research effort is supported by the National Institutes of Health.
As Associate Director of the Mayo Clinic Center for Individualized Medicine iDr. Lazaridis has been instrumental in the establishment and expansion of the Individualized Medicine Clinic and the direction of the Clinomics translational program.
Michael Linderman, Ph.D., is an Assistant Professor of Computer Science at Middlebury College, and previously was a Research Assistant Professor in the Department of Genetics and Genomic Sciences at Mount Sinai in New York. Michael is a computer engineer and computational biologist working to implement medical genomics. At Mount Sinai, he was a co-investigator in HealthSeq, a study investigating the return of whole genome sequencing data to healthy individuals, and the co-developer and director of "Practical Analysis of Your Personal Genome", a unique laboratory-style genomics course in which students have the option to sequence and analyze their own whole genome. His research interests include variant interpretation, structural variant genotyping, and genomics education for the public, patients and providers.
Dr. Mahipal’s research areas of interest are early phase clinical trials and developing prognostic and predictive biomarkers in gastrointestinal malignancies. His team has evaluated the role of cytoplasmic and membrane epidermal growth factor receptor and exportin 1 in pancreatic cancer in separate projects. The team is currently assessing the antitumor activity of inhibitors of exportin1 in pancreatic tumor xenograft models. The results of these studies have led to the development of clinical trial evaluating the role of exportin1 inhibitor in treatment of pancreatic cancer. He has been involved in developing several phase I/II clinical trials. Dr. Mahipal previously worked as a director of clinical research unit at Moffitt Cancer Center, where he was the principal investigator of several phase 1 clinical trials with the focus on gastrointestinal tumors involving novel agents targeting different pathways including PI3K/akt, MEK, mtor, hedgehog, and p53.
Dr. Martens is Assistant Professor of Microbiology and Immunology at the University of Michigan Medical School. Dr. Martens obtained his B.A. (1997) from Washington University in St. Louis and his Ph.D. (2005) from the University of Wisconsin-Madison. Dr. Martens began investigating the mechanisms through which human gut bacteria digest diet- and host derived polysaccharides during his postdoctoral work in the laboratory of Jeffrey Gordon at Washington University School of Medicine. He has continued to pursue this work at the University of Michigan Medical School with a focus on members of the Bacteroidetes, one of only a few numerically dominant phyla of human gut bacteria that are particularly adept at degrading polysaccharides present in dietary fiber and mucosal secretions. Current projects in the Martens laboratory are aimed at identifying the molecular function and coordinated regulation of the Bacteroides thetaiotaomicron starch-utilization system (Sus) and many homologous cell surface-associated “Sus-like” protein complexes in this species and other bacteria. Each of these systems is involved in recognizing, binding and degrading starch or one of the dozens of other complex carbohydrates commonly found in foods or the gastrointestinal mucosa. Additional focus areas involve the role of commensal gut bacteria in inflammatory bowel diseases and the assembly of synthetic microbial communities from fully sequenced and characterized strains to model aspects of microbiota function in health and disease.
Eric Teye Matey PharmD, RPh, BCACP, has been a pharmacist at Mayo Clinic since graduating from Howard University School of Pharmacy in 2004. From 2006 through 2009, he worked with Mayo Specialty Pharmacist in charge of Growth Hormone Deficiency, Primary Immune Deficiency and Hepatitis C. In this capacity, he collaborated with specialists in these fields to ensure appropriate medication dosing and patient education for optimal medication experience. In 2009, he began working within the clinic as a Medication Therapy Management (MTM) pharmacist with interest in pharmacogenomics and Macrobacterium Avium Complex (MAC). He became a Board Certified Ambulatory Care Pharmacist (BCACP) in 2012, the second year that the Board of Pharmacy Specialties offered the ambulatory care specialty exam. Dr. Eric Teye Matey volunteer at the salvation clinic in the past with Dr. Robert Hoel with a focus on diabetes education and medication management for underserved patient population in Rochester MN. In his spare time, he enjoys biking and as captain of Team Humphrey’s (Tour de Cure-ADA) continues to raise funds for diabetes research and awareness. He is a board member of Africa Partners Medical, a nonprofit organization, which primary goal is to stop needless death in Africa. Professional memberships include MPhA, APhA, ACCP and ASHP.
Dr. McWilliams is a staff consultant and Associate Professor of Oncology at the Mayo Clinic, and Vice Chair of the Division of Medical Oncology. After receiving his undergraduate degree from the University of Virginia, he completed medical school at Georgetown University in Washington, DC, graduating summa cum laude. He completed his medical residency at Johns Hopkins, and a fellowship in hematology/oncology at Mayo Clinic in Rochester, MN. He also has completed a postdoctoral cancer genetic epidemiology fellowship at Mayo, and has actively studied and published extensively in the field of genetics of pancreatic cancer since 2003. He is principal investigator of multiple clinical trials in gastrointestinal cancer and melanoma, and serves as Chair of the Mayo Clinic Genomic Tumor Board.
Dr. Mendelsohn is a clinically active medical geneticist and the senior medical director of the ambulatory specialty clinics as the Children’s Hospitals & Clinics of Minnesota. She is an assistant professor at University of Minnesota Medical School. Dr. Mendelsohn completed her medical education at University of Missouri, Columbia School of Medicine, in Columbia, MO and her residency in pediatrics at Washington University St. Louis Children’s Hospital in St. Louis, MO. She is board-certified Clinical Genetics and served as the medical director of the medical genetics clinic at Children’s Hospitals and Clinics of Minnesota from 2007-2015.
Dr. Mendelsohn has a particular interest in the diagnosis of rare disorders. She has developed infusion protocols for enzyme replacement therapy for children with lysosomal disorders. Her group successfully developed an enzyme tolerance protocol for the infusion of CRIM (cross-reacting immunologic material) negative Pompe patients. The genetics group at Children's Hospitals & Clinics of Minnesota is dedicated to the careful diagnosis, coordinated care and treatment of children with rare disorders.
Dr. Nelson is the Fred C. Andersen Professor of Surgery at Mayo Clinic in Rochester, Minn., Chair of the Department of Surgery and past Chair of the Division of Colon and Rectal Surgery.
Dr. Nelson received her medical degree from the University of Washington, School of Medicine, completed her General Surgery Residency at Oregon Health and Science University and her fellowship training in Colon and Rectal Surgery at Mayo Clinic. Dr. Nelson’s long standing research interests parallel her clinical work in colon and rectal cancer. She was the PI of the National Cancer Institute (NCI)-grant and lead investigator for the National Institutes of Health (NIH)-funded laparoscopic colectomy for cancer trial. She has been the recipient of numerous nationally funded grants and is widely published in high impact journals. In addition to her own basic and clinical laboratory work she has held several research leadership roles including past program director within the Mayo Clinic Cancer Center and current director of the Mayo Microbiome Program in the Mayo Clinic Center for Individualized Medicine. Within the NCI Cooperative Groups she was the Vice Chair of the North Central Cancer Treatment Group and then served as a Group Chair of American College of Surgeons Oncology Group. She has been on the faculty for the AACR/ASCO Methods in Clinical Cancer Research Workshop for a three year term, a member and then chair of two NIH (NCI) study sections including, Subcommittee H (Cooperative Group Study Section), Clinical Oncology and a member of the NCI Clinical Trials Advisory Committee.
Dr. Nowakowski is a consultant and chair of education in the Division of Hematology at Mayo Clinic.He is also an assistant professor of medicine in Mayo Clinic College of Medicine and program director of the Hematology/Oncology Fellowship in Mayo School of Graduate Medical Education.
Dr. Nowakowski received his M.D. from the Medical University of Warsaw, Poland. He completed his internal medicine residency at Norwalk Hospital in Norwalk, Conn., and his fellowship in hematology-oncology at Mayo Clinic. Dr. Nowakowski joined the Mayo Clinic lymphoma group in 2006 as a Mayo Foundation Scholar.
Dr. Nowakowski's research focuses on molecular classification, biology and novel therapies of lymphoproliferative disorders. Dr. Nowakowski is the principal investigator of multiple investigator-initiated and cooperative group clinical trials. He also serves as scientific officer in the Academic and Community Cancer Research United (ACCRU), where he is responsible for overseeing hematology clinical trials.
Dr. Nowakowski is an alumnus of the American Society of Hematology (ASH) Clinical Research Training Institute. He served as a member of the ASH Committee on Scientific Affairs. He also chairs the American Society of Clinical Oncology Lymphoma and Myeloma Education Committee for 2014-2015.
Dr. Janet E. Olson is a genetic epidemiologist with extensive experience in community based and disease specific biobanking. She is the Project Director of the Center for Individualized Medicine Mayo Clinic Biobank since its inception in 2008. As Project Director, she designed and managed the day-to-day infrastructure that led to successful enrollment of more than 56,000 participants. She also has extensive experience in building disease focused biobanks. She co-led the Mayo Clinic Breast Cancer Registry that successfully recruited more than 6,000 women for breast cancer research that has led to numerous publications in the area of breast cancer etiology. She is also a co-investigator and active member of the Electronic Medical Records and Genomics (eMERGE) Network as well as the Mayo Clinic CIM funded “Right, Drug, Right Dose, Right Time Protocol (RIGHT Protocol)”. She also teaches two courses in the Mayo Clinic Graduate School.
Dr. Robin Patel graduated from Princeton University with a BA in Chemistry in 1985 and from McGill University in Montreal, Canada with an M.D.(C.M.) in 1989. She then moved to Rochester, Minnesota, where she completed residencies in Internal Medicine and Microbiology and a fellowship in Infectious Diseases at the College of Medicine, Mayo Clinic. In 1996, upon completion of post-graduate training, she joined the staff of Mayo Clinic. She is currently Professor of Medicine, and Professor of Microbiology, Director of the Clinical Bacteriology Laboratory and the Infectious Diseases Research Laboratory, and Chair of the Division of Clinical Microbiology, Mayo Clinic.
Dr. Patel’s research focuses on clinical bacteriology diagnostic testing, antimicrobial resistance, and microbial biofilms. She has published over 250 peer reviewed manuscripts and has delivered numerous national and international presentations. She is a Fellow of American Academy of Microbiology, a past member of the IDWeek Program Planning Committee, the chair of the United States Medical Licensing Examination Microbiology and Immunology Test Material Development Committee and the chair of the ASM Microbe 2016 Program Planning Committee. She is an associate editor for the Journal of Clinical Microbiology, and the course director for the Mayo Medical School Microbiology course.
Eliseo J. Pérez-Stable, M.D. oversees NIMHD's $280 million budget to conduct and support research, training, research capacity and infrastructure development, public education, and information dissemination programs to improve minority health and reduce health disparities. NIMHD is the lead organization at the National Institutes of Health (NIH) for planning, reviewing, coordinating, and evaluating minority health and health disparities research activities conducted by NIH.
Dr. Pérez-Stable's expertise spans a broad range of health disparities disciplines. His research interests have centered on improving the health of racial and ethnic minorities and underserved populations, advancing patient-centered care, improving cross-cultural communication skills among health care professionals, and promoting diversity in the biomedical research workforce. Recognized as a leader in Latino health care and disparities research, Dr. Pérez-Stable spent 32 years leading research on smoking cessation and tobacco control policy in Latino populations in the United States and Latin America, addressing clinical and prevention issues in cancer screening, and mentoring over 70 minority investigators.
Prior to becoming NIMHD Director, Dr. Pérez-Stable was a professor of medicine and chief of the Division of General Internal Medicine, at the University of California, San Francisco (UCSF). He was also director of the UCSF Center for Aging in Diverse Communities, which is funded by NIH's National Institute on Aging and director of the UCSF Medical Effectiveness Research Center for Diverse Populations.
Dr. Pérez-Stable was elected to the National Academy of Medicine (formerly Institute of Medicine) of the National Academy of Science in 2001. He earned his B.A. in chemistry from the University of Miami, and completed his primary care internal medicine residency and research fellowship at UCSF.
Dr. Petrosino is an associate professor of molecular virology and microbiology at Baylor College of Medicine, where he also holds joint appointments in the Human Genome Sequencing Center, and the Department of Ophthalmology. Dr. Petrosino was a principal investigator for the National Institutes of Health (NIH) Common Fund Human Microbiome Project and has since established and directs the Alkek Center for Metagenomics and Microbiome Research (CMMR). With over 150 collaborations, the CMMR is pursuing over 300 metagenomics projects internationally with the goal to improve human health through detection and modulation of the microbiome and to translate new discoveries into new diagnostics and therapeutics. Among the latest CMMR projects initiated is a comprehensive microbiome analysis of 20,000+ type 1 diabetes samples from the NIH/NIDDK TEDDY (The Environmental Determinants of Diabetes in the Young) prospective cohort with the goal to identify microbial taxonomic and functional associations, and potentially triggers, for this disease. From 2012-2014, Dr. Petrosino was an American Society for Microbiology Distinguished lecturer and has contributed to more than 70 peer-reviewed microbiome studies since 2011, when the CMMR was founded.
Dr. Prokop is a senior scientist with HudsonAlpha Institute for Biotechnology. His research focus is on combining in silico tools with bench top research to understand proteins, how they evolve, what regulated their expression, and how modifications alter their function. His group utilizes computer tools such as evolutionary analysis, promoter analysis, codon selection, protein modeling, and molecular dynamic simulations, to name a few, in order to study what features of proteins are conserved and how those elements may function. This computer work is currently funded by the National Institutes of Health (NIH) Big Data to Knowledge initiative to develop a deep Sequence-to-Structure-to-Function analysis for disease variants. Once his group has computer generated hypotheses for function, they utilize biochemistry, molecular genetics, and physiological approaches to test their predictions. Recently, Dr. Prokop’s work has focused in two areas, using evolution to determine novel peptide inhibitors/activators, particularly in signaling biology and studying genetic variants that contribute to disease. For diseases his group is currently focusing on utilization of whole genome sequencing for rare/undiagnosed diseases in addition to dissecting the mechanisms for Genome Wide Association Data (GWAS) in common diseases such as cardiovascular/kidney disease and cancer.
Dr. Ramsey completed her undergraduate work in 2004, receiving her B.S. in chemistry at the University of Northern Iowa in Cedar Falls, IA. She then joined the Molecular, Cellular, Developmental Biology & Genetics Program at the University of Minnesota in Minneapolis, MN, where she studied the role of B cell receptor signaling in autoimmunity and leukemia. After defending her thesis and receiving her Ph.D. in 2009, Dr. Ramsey began her postdoctoral training with Dr. Mary Relling at St. Jude Children's Research Hospital in Memphis, TN. There she studied pharmacogenomics, and identified genetic variants associated with clearance of the drug methotrexate. Dr. Ramsey is a member of the Clinical Pharmacogenetics Implementation Consortium (CPIC), and led the 2014 update of the CPIC guideline regarding SLCO1B1 and simvastatin-induced myopathy. The Ramsey lab is interested in all aspects of pharmacogenetics, from basic research to implementation in patient care. Dr. Ramsey has joined Cincinnati Children’s Genetic Pharmacology Service to implement pharmacogenetics in patient care. She will be working with this multidisciplinary team to develop, interpret and implement new pharmacogenetic tests in the electronic medical record. She will also work to educate doctors, pharmacists, genetic counselors and nurses on when and how to use the tests in the clinic.
Dr. Rey is an Assistant Professor in the Department of Bacteriology. His research program focuses on the human microbiome, with a special interest in how gut microbial metabolism impacts cardiometabolic disease. He earned his bachelor’s and a master’s degree in clinical chemistry from Universidad Nacional de Cordoba in Argentina. As an undergraduate he explored how free radicals modulate vascular tone and atherosclerosis. He did his doctoral work with Professor Caroline Harwood studying anaerobic microbial metabolism. He engineered photosynthetic bacteria for improved hydrogen production. After obtaining his Ph.D., he went on to do postdoctoral studies with Professor Jeffrey Gordon (Washington University in St. Louis), where he explored how human gut microbes interact with each other and their host. In this work, he revealed the metabolic niches of several key members of the community, as well as identifying how they contribute to host health and disease. In Madison, he is expanding on this work looking at how vascular disease is impacted by the interplay between host, host microbiota, and diet.
Dr. Keith Robertson earned his Bachelor’s degree in Biochemistry at Cornell University and his Ph.D. in Pharmacology at The Johns Hopkins University. He did postdoctoral training with Dr. Peter Jones at the University of Southern California and with Dr. Alan Wolffe at the National Institutes of Health. His first faculty position was within the intramural program at the NIH followed by the University of Florida. He is currently a Professor of Molecular Pharmacology and Experimental Therapeutics at Mayo Clinic Rochester. Dr. Robertson has published over 80 manuscripts in the area of cancer epigenetics and his laboratory has been continuously funded by the NIH.
Dr. Rountree is a practicing physician and the Chief Medical Officer for Thorne Research, a world leader in the development and manufacturing of pure, high-quality nutritional and botanical supplements. After graduating Magna Cum Laude from the University of North Carolina at Greensboro in 1976, Dr. Rountree received his medical degree from the University of North Carolina School of Medicine at Chapel Hill in 1980. He subsequently completed a residency in family and community medicine at the Milton S. Hershey Medical Center in Hershey, Pennsylvania, and was certified by the American Board of Family Practice.
Dr. Rountree began his professional career at Wellspring, Partners in Health, a multidisciplinary clinic that was one of the first integrative healthcare centers in the U.S. In January, 2002, he opened Boulder Wellcare, a private practice specializing in individual healthcare consulting. He is the long-time medical editor for Delicious Living magazine (Penton), and Clinical Editor as well as a regular columnist for Alternative and Complementary Therapies (Mary Ann Liebert, Inc). He has coauthored numerous books and written numerous book chapters on Integrative and Nutritional Medicine, including the Textbook of Functional Medicine, Clinical Botanical Medicine; Clinical Natural Medicine Handbook; The New Breastfeeding Diet Plan; Immunotics; and Smart Medicine for a Healthier Child.
In addition to his clinical practice, he is a long-standing member of the core faculty for the Institute for Functional Medicine in Federal Way, WA. In June, 2015, he was given the Linus Pauling Functional Medicine Award by IFM, in recognition of his years of mentoring and training health care providers.
Dr. Saunders is an Associate Professor of Pathology at the University of Missouri-Kansas City School of Medicine, and Clinical Director of the Center for Pediatric Genomic Medicine at Children's Mercy Hospital.
Dr. Saunders received a Ph.D. with honors in Molecular Biology at The University of Kansas, and completed a Post-Doctoral Fellowship in Clinical Molecular Genetics at Emory University School of Medicine.
She has served as director of the Molecular Genetics Laboratory at Children's Mercy since 2002. Dr. Saunders's research interests include the use of next-generation sequencing in both clinical and research settings, identification of new human disease genes, and mitochondrial disease.
Gabriel Shaibi, PhD is an Associate Professor, Southwest Borderlands Scholar, and Director of the Center for Health Promotion and Disease Prevention at Arizona State University. For the past 10 years, his research has focused on understanding and preventing obesity-related health disparities among Latino youth and families. His work spans the translational spectrum from basic science to health promotion policy where he works closely with a transdisciplinary team of researchers, clinicians, and community partners to improve health equity among vulnerable and underserved populations. He has published more than 65 peer-reviewed publications stemming from over $15 million in extramural research funding. His most recent funding is a 5-year, $3.1 million grant from the National Institutes of Health (NIH) to test the efficacy of a community-based diabetes prevention program for obese Latino youth with prediabetes. Other ongoing projects include a culturally-grounded lifestyle intervention aimed at improving insulin sensitivity and glucose tolerance among obese Latino youth funded by the National Institute on Minority Health and Health Disparities at NIH and a family-based diabetes prevention program for Latino families at high-risk for type 2 diabetes. In addition to his own research, Dr. Shaibi is a co-investigator on the Sangre Por Salud Biobank, a collaborative endeavor between the Mayo Clinic Center for Individualized Medicine and Mountain Park Health Center with the goal of bringing precision medicine opportunities to Latino patients who are served by a Federally Qualified Health Center in Phoenix, Arizona.
Dr. Robert J. Sims III joined Constellation Pharmaceuticals as one of its three founding scientists, and is currently Vice President of Research. With nearly 20 years of experience in chromatin biology and transcription, Dr. Sims helped establish the industry-leading epigenetics platform at Constellation. Dr. Sims led the discovery and translational efforts for CPI-0610, a novel BET bromodomain inhibitor currently in phase 1 clinical development for hematologic malignancies. Dr. Sims received his Ph.D. in Cellular and Molecular Biology from the University of Texas at Austin and completed his postdoctoral training at UMDNJ-Robert Wood Johnson Medical School and the New York University School of Medicine.
Dr. St. Louis earned her M.D. and Ph.D. degrees from Ural State Medical Academy, Russia. She completed her residency in lab pathology at Russian Medical Academy for Postgraduate Education, Moscow. Dr. St. Louis joined the Department of Microbiology, at University of Minnesota, as a postdoctoral trainee, followed by fellowships at the University of Minnesota Supercomputing Institute and Lymphoma Research Foundation. In 2013, Dr. St. Louis was appointed as an Assistant Professor at the Department of Medicine, Division of Infectious Diseases and International Medicine (IDIM).
Dr. St Louis’ primary research focuses on identification of molecular biomarkers of immune reconstitution inflammatory syndrome (IRIS) and other complications of antiretroviral therapy. Her career path is focused on the establishment of a translational genomic research program in AIDS and AIDS-related illnesses. Irina collaborates with IDIM professionals, through a Global Health Programs, on clinical trials, e.g. Cryptococcal Optimal ART Timing (COAT) study, working on stratification of patients for optimal treatments. Dr. St. Louis holds multiple postdoctoral travel awards (from AACR, FEBS, EMBO, RNA Society and IBM) and Howard Hughes Medical Institute Research Mentor Award (2011-2013). She also teaches the “Foundation of Critical Thinking in Medicine” course for first year medical students.
Dr. Swann is a Senior Lecturer in Human Development and Microbiomics within the Division of Computational and Systems Medicine at Imperial College London. He leads a metabonomic-based research program to understand the influence of gene-environment interactions on the mammalian metabolic system and their implications for development, health and disease. His primary interests are in the field of global health exploring the biochemical consequences of under-nutrition and infection in children from the developing world and characterizing the metabolic interactions between the gut microbiome and the host and its role in host development.
Jesse Swen Pharm.D., Ph.D. is an associate professor of pharmacogenetics and clinical pharmacist at the Department of Clinical Pharmacy & Toxicology, Leiden University Medical Center. He is a staff member of the laboratory section of the hospital pharmacy, with most of his time devoted to the pharmacogenetics laboratory. His research efforts are in 2 areas. First, he is interested in finding genomic biomarkers for the response to pharmacotherapy in oncology. He is particularly interested in unravelling genetic mechanisms behind the response to antiangiogenic drugs. Second, he is interested in the clinical implementation of pharmacogenomics. He is one of the primary investigators of the “Ubiquitous Pharmacogenomics” project (www.upgx.eu). This project aims to implement pharmacogenetics across 7 European sites by genotyping 8,000 patients. Dr. Swen has published multiple papers on the identification of barriers for clinical implementation of pharmacogenomics and the development of approaches to overcome them. In addition he has (co)authored pharmacogenomic guidelines and is actively involved in the Dutch Pharmacogenetics Working Group and the international Clinical Pharmacogenetics Implementation Consortium.
Dr. Wick is a Consultant and Assistant Professor in the Department of Obstetrics and Gynecology and the Department of Medical Genetics. She is board certified by the American Board of Obstetricians and Gynecologists and the American Board of Medical Genetics. Dr. Wick received her Ph.D. from Mayo Graduate School of Medicine and her M.D. from Mayo Medical School. She completed residencies in the Department of Obstetrics and Gynecology and the Department of Medical Genetics through the Mayo Graduate School of Medicine.
Dr. Wick’s clinical practice focuses on prenatal genetics and the genetics of hereditary cancer syndromes, particularly those syndromes associated with gynecologic cancers. Research interests include bio-banking of umbilical cord blood and placental tissue, epigenetic markers in fetal alcohol syndrome, the genetics of hypoplastic left heart syndrome, and prenatal molecular diagnostics. She is a member of the Mayo Clinic Genomic Odyssey Board, the Department of Laboratory Medicine and Pathology Prenatal Disease Oriented Group and the Hereditary Cancer Disease Oriented Group. She is also a teacher for the Year One Genetics through the Mayo Medical School and has been a reviewer for the Mayo Clinic Proceedings journal since 2013.
Dr. Philip Ahern completed a BSc. in Industrial Biochemistry at University of Limerick in 2004. Following this he performed a D. Phil. (Ph.D) in Cellular and Molecular Immunology at the Sir William Dunn School of Pathology, University of Oxford in the laboratory of Prof. Fiona Powrie and Dr. Kevin Maloy where he studied the cellular and cytokine networks that drive inflammatory bowel disease, specifically how the cytokine IL-23 orchestrates intestinal inflammation through CD4+ T cell and innate lymphoid cell populations. Following this, Dr. Ahern carried out postdoctoral research as a Sir Henry Wellcome Postdoctoral Fellow in the laboratory of Prof. Jeffrey Gordon in the Center for Genome Sciences and Systems Biology in the Washington University School of Medicine in St. Louis. Here he studied the interaction between members of the gut microbiota and the intestinal immune system, specifically anti-inflammatory Treg cells, using methods that allowed systematic assessment of the capacity of members of the microbiota to shape host phenotypes in an unbiased fashion. Currently he is an Instructor in Pathology and Immunology in the Washington University School of Medicine in St. Louis.
Dr. Babovic-Vuksanovic is a Professor of Clinical Genomics and Pediatrics at Mayo College of Medicine. She is a consultant geneticist, the Chair of the Department of Clinical Genomics and the Director of the Neurofibromatosis Clinic at Mayo Clinic, Rochester, Minnesota. She completed her M.D. degree at the University of Sarajevo (Bosnia and Herzegovina). Dr. Babovic completed her residency in Pediatrics, residency in Clinical Genomics and a fellowship in Molecular Genetics at Mayo Clinic, Rochester, Minnesota. She is board certified in Pediatrics, Clinical Genomics, and Clinical Molecular Genetics. She is a member of American Medical Association, American College of Clinical Genomics, American Society of Human Genetics, European Society of Human Genetics. Dr. Babovic serves as a Research Advisory Board member of the Children’s Tumor Foundation. She is also a reviewer for a number of medical journals and a member of editorial boards. She has been an invited speaker to several national and international conferences. She specializes in patients with Neurofibromatosis type 1, Neurofibromatosis type 2, and Schwannomatosis and has expertise in a variety of genetic disorders. She has more than 90 peer-reviewed publications and has authored several book chapters.
Dr. Chu is a post-doctoral fellow at the California Institute of Technology in the laboratory of Dr. Sarkis Mazmanian. Her research focuses on the role of the microbiota in maintaining intestinal homeostasis. Dr. Hiutung Chu's recent work uncovered the role of gene-microbiota interactions in the pathogenesis of inflammatory bowel disease (IBD).
Dr. Hand is a Physician in the Dermatology and Medical Genetics and Pediatrics at the Mayo Clinic in Rochester, MN. Jennifer Hand is an Assistant Professor of Dermatology, Pediatrics and Medical Genetics in the College of Medicine. Graduated with high honor from the University of California at Berkeley as a member of Phi Beta Kappa; Graduated from Mayo Medical School in Rochester, Minnesota; Completed residencies in both Dermatology and Medical Genetics. She is board certified in Dermatology, Medical Genetics and Pediatric Dermatology. Clinical interests include Adult and pediatric melanoma and inherited cancer syndromes.
Magnus Ingelman-Sundberg, PhD; BSc.Med; Professor of Molecular Toxicology since 1996 and research group leader in Pharmacogenetics at the Department of Physiology and Pharmacology, Karolinska Institute since 2006. More than 420 original papers, 26,500 citations (34,500 in Google Scholar) and an h-factor of 85 (ISI) or 98 (Google Scholar). Member of The Nobel Assembly at Karolinska Institutet since 2008. Member of Editorial Advisory Boards of e.g. Trends in Pharmacological Sciences (Edit Board), Pharmacogenetics and Genomics, Pharmacogenomics, Drug Metabolism Reviews, Drug Metabolism and Disposition. Chairman of the Microsomes and Drug Oxidation International Advisory Committee, mdo.ki.se. Recently categorized by Thomson Reuters as one of the World’s Most Influential Scientific Minds (http://sciencewatch.com/sites/sw/files/sw-article/media/worlds-most-influential-scientific-minds-2014.pdf) based on recent (2002-2012) citations and assigned “Highly Cited Researcher for 2015 by Thomson & Reuters (www.highlycited.com). Research profiles includes genetic biomarkers for drug response and novel hepatic in vitrosystems for studying adverse drug reactions and drug targets.
Nadia N. I. Laack, MD MS. Assistant Professor of Radiation Oncology and Pediatrics, Vice Chair for Research, Department of Radiation Oncology
Dr. Laack has extensive experience in development and execution of clinical trials, focusing primarily on central nervous system tumors and Ewing sarcoma. She is involved in pediatric oncology research at the national level as radiation chair of the bone committee for the COG, and has served as the radiation oncology primary investigator on several Ewing sarcoma studies recently completed and currently ongoing (AEWS07P1, AEWS1031, AEWS1221). Dr. Laack has an interest in advanced imaging and its utility in cancer therapy and recently received a R01 grant to study the role of FDOPA PET in the resection and radiotherapy treatment of gliomas. She is the primary investigator of an Alliance/NCCTG sponsored trial, N0877, a study investigating the role of dasatinib in newly diagnosed GBM. Additionally, she is also an investigator in the Mayo Clinic Brain Spore grant which has helped support her interest in analyzing patient outcomes to inform best practices for rare central nervous system tumors such as low grade gliomas, central nervous system germ cell tumors, medulloblastoma, and NF2-related tumors. Her other interest is understanding and preventing cognitive effects of radiation therapy. She was the co-principle investigator of the recently completed study RTOG 0614, a large, national clinical trial investing the role of memantine in preventing cognitive dysfunction in patients receiving whole-brain radiotherapy. Memantine reduced the incidence of cognitive deterioration in these patients and is now used standardly to prevent cognitive dysfunction in adults receiving whole brain radiotherapy. Her future efforts will continue to focus on translating this research to children as well as adults receiving different types of radiation.
Dr. Largaespada, Ph.D, is a Full Professor in the Departments of Pediatrics and Genetics, Cell Biology and Development and the Associate Director for Basic Research in the Masonic Cancer Center at University of Minnesota. He is an authority on mouse genetics, gene modification and cancer genes. He received his B.S. in Genetics and Cell Biology from the University of Minnesota, Twin Cities in 1987 and his Ph.D. in Molecular Biology with Dr. Rex Risser at the University of Wisconsin-Madison in 1992. He did a postdoctoral fellowship at the National Cancer Institute working with world-renowned geneticists Dr. Nancy Jenkins and Dr. Neal Copeland, where the Leukemia and Lymphoma Society of America awarded him a postdoctoral fellowship. He joined the faculty of the University of Minnesota in late 1996. Dr. Largaespada currently holds the Hedberg Family/Children’s Cancer Research Fund Chair in Brain Tumor Research. He was awarded the American Cancer Society Research Professor Award in 2013, the highest award given by the ACS.
Dr. Largaespada has published over 155 scientific articles and has co-founded three biotechnology companies. Dr. Largaespada's laboratory is working to exploit insertional mutagenesis for cancer gene discovery and functional genomics in the mouse. Ongoing work includes genetic studies of myeloid leukemia chemotherapy resistance and relapse. The Largaespada lab pioneered the use a vertebrate-active transposon system, called Sleeping Beauty (SB), for insertional mutagenesis in mouse somatic cells. SB is being used as a tool for forward genetic screens for cancer genes involved in sarcoma, hepatocellular carcinoma, and mammary, gastro-intestinal tract and NF1 syndrome-associated nervous system cancers. A special emphasis of this work is on genes that promote metastasis or govern treatment sensitivity. Also, novel mouse models are being used for preclinical evaluation of new drugs and drug combinations for cancer treatment.
Dr. Liu is a consultant in the Department of Oncology at Mayo Clinic Minnesota. She serves as Research Chair for the Division of Medical Oncology; co-chair of the Breast Cancer Pathology Disease Oriented Group; and leader of the Circulating Tumor Cell and Cell Free DNA Working Group. She is also the Medical Director for Specialty Contract Operations and an Associate Medical Director in the Department of Development.
Dr. Liu earned her M.D. at Jefferson Medical College in Philadelphia, Pennsylvania. She completed her internal medicine residency and hematology/oncology fellowship at Georgetown University Medical Center in Washington, D.C.
As a physician and translational researcher, Dr. Liu specializes in breast medical oncology and clinical and laboratory-based cancer research. She is dedicated to improving patient outcomes through access to novel therapeutic agents and molecular diagnostic tools. Her laboratory efforts focus on expanding the clinical applications of circulating nucleic acid and circulating tumor cell assays for solid tumor malignancies. Her funding sources include the National Cancer Institute, Department of Defense, Breast Cancer Research Foundation, and Susan G. Komen for the Cure. She has co-authored numerous articles that have been published in peer-reviewed journals, and she holds editorial board member and reviewer responsibilities for prominent scientific publications.
In recognition of her work, Dr. Liu has received teaching awards and is listed as an honored member in America’s Registry of Outstanding Professionals and Marquis’ Who’s Who in Medicine and Healthcare
Dr. Aida Lteif graduated with an M.D. degree from St. Joseph University in 1992. She did her pediatric residency training at SUNY in upstate New York and her pediatric endocrinology fellowship training at Mayo Clinic in Rochester, Minnesota. She is currently an assistant professor of pediatrics and the chair of the Division of Pediatric endocrinology at Mayo Clinic, Rochester, Minnesota. Dr. Lteif’s clinical research interest evolves around the topics of adrenal and pituitary disorders in addition to the topic of pediatric diabetes.
Timothy Lu is an Associate Professor leading the Synthetic Biology Group in the Department of Electrical Engineering and Computer Science and the Department of Biological Engineering at MIT. Tim graduated with his SB and MEng from MIT, and his MD/PhD from the Harvard-MIT Health Sciences and Technology program. He is a core member of the MIT Synthetic Biology Center and a co-founder of multiple biotechnology companies innovating new diagnostic and therapeutic technologies for human health, including Sample6, Synlogic, Eligo Biosciences, and Engine Biosciences.
Tim’s research at MIT focuses on engineering platforms for computing and memory in living cells and applying these to create adaptive medicines as next-generation cell and gene therapies for important human diseases. He is a recipient of the ACS Synthetic Biology Young Investigator Award, the Biochemical Engineering Journal Young Investigator Award, the NIH New Innovator Award, the Presidential Early Career Award for Scientists and Engineers, and the Ellison Medical Foundation New Scholar in Aging Award, among others.
Dr. Mendes-Soares is currently a research fellow in the Microbiome Program of the Center for Individualized Medicine at Mayo Clinic. Her initial training was on the ecology and behavior of mammals, but transferred the knowledge gained to the study of the ecology of bacteria. She is developing her scientific career around the topic of microbial interactions both at an empirical and computational level. Her graduate work was on pairwise interactions between soil bacteria, and a postdoctoral fellowship on community dynamics of the human vaginal microbiome. Dr. Mendes-Soares’ current research allows me reviews the inclusion of the human host as a factor influencing the microbial communities. She currently makes use of, and develops theoretical models of metabolic interactions to better describe the dynamics of microbial communities inhabiting the human body, specifically the communities of the gastrointestinal tract.
Dr. Messiaen is a graduate of the Institute for Psychosocial Education in Kortrijk, Belgium and holds a MS in Molecular Biology and PhD degree in Cancer Biology from the University of Ghent in Belgium. She was on faculty at the Ghent University Hospital from 1991 to 2003. In 2003, she joined the University of Alabama in Birmingham (UAB) as a professor in the Department of Genetics and Director of the Medical Genomics Laboratory (MGL) she started in 2003.
The MGL is a CAP-certified, non-profit clinical laboratory, offering comprehensive testing for common and rare genetic disorders. The MGL specializes in testing for all rasopathies, with focus on the neurofibromatoses, including NF1, spinal NF, NF-Noonan, segmental NF, Legius syndrome, NF2 and schwannomatosis.
Ludwine Messiaen has written several book chapters and has authored or co-authored over 130 peer-reviewed publications. Her research has a special focus on Neurofibromatosis type1 and phenotypically overlapping disorders such as e.g. Legius syndrome. She is interested to fully explore the diverse spectrum of NF1 mutations, including those mutations not readily identified by DNA-based analysis of the coding regions (e.g. deep-intronic splice mutations or retrotransposon-mediated mutations). She explores NF1 genotype-phenotype correlations using several complementary approaches, including comparison of discrete phenotypic signs in unrelated patients carrying an identical NF1 mutation, characterization of cells/tissues affected in patients with mosaic or segmental NF, definition of the mutational spectrum in patients with variant forms of NF (spinal NF, Watson syndrome, NF-Noonan). Her lab also actively engages in the identification of novel genes contributing to the neurofibromatoses, especially in those patients who underwent exhaustive analysis through clinical testing with no mutations identified in any of the genes so far known to cause the phenotype. This approach recently led to the identification of LZTR1 as a novel major schwannomatosis-predisposing gene.
Dr. Moertel is the Kenneth and Betty Jane Dahlberg Professor in the University of Minnesota School of Medicine. He is the medical director of the pediatric cancer and blood diseases Journey Clinic and clinical director of the brain tumor program at the University of Minnesota Masonic Children’s Hospital. He also serves as the medical director of the Children’s Tumor Foundation Minnesota Neurofibromatosis Clinic Without Walls. He is currently co-Primary Investigator of the Department of Defense sponsored neurofibromatosis-associated scoliosis study and the Children’s Tumor Foundation Synodos Grant to discover innovative therapies for neurofibromatosis, type 1. In addition, he is primary investigator for clinical trials at the University of Minnesota testing immunotherapy against brain tumors and is the local primary investigator for Children’s Oncology Group brain tumor clinical trials in addition to an international clinical trial investigating targeted therapy for pediatric tumors, including NF1-associated tumors. He holds an IND for vaccine therapy against diffuse intrinsic pontine glioma and low-grade glioma. Dr. Moertel is a graduate of St. Olaf College. After teaching middle school science for two years at the Blake Schools, he attended medical school at The University of Minnesota. He did his pediatric training at Baylor College of Medicine in Houston, Texas, and completed a fellowship in pediatric hematology and oncology at Mayo Clinic. Prior to arriving at the University of Minnesota, Dr. Moertel practiced at Children’s Hospitals of Minnesota from 1990 to 2007. While at Children’s of Minnesota, he served as medical director of the Theodora Lang Pediatric Oncology Clinic and chief of staff, among other leadership roles.
Dr. Okuno, a Professor of Oncology, received his BA at St. Olaf College and went to medical school at the University Illinois Medical School in Chicago. He did his internal medicine residency and hematology/oncology fellowship at the Mayo Graduate School of Medicine.
Dr. Okuno has been on staff at Mayo Clinic since 1996 and his clinical and research interests are in sarcomas. At Mayo Clinic, he is Chair of the Outpatient Practice Committee and Outpatient Care Delivery Platform. Outside of Mayo Clinic, he presently is Chair of the Alliance Audit Committee and Medical Officer for SARC.
Dr. Mrinal Patnaik is a consultant with the division of Hematology and the Department of Internal Medicine at the Mayo Clinic in Minnesota. He completed his Medical School training from the Grant Medical College in India, followed by an Internal Medicine Residency at the University of Minnesota and then went on to complete a Fellowship in Hematology, Oncology and Bone Marrow Transplant at the Mayo Clinic, Minnesota. He is the Myeloid Director for the Mayo Clinic Center for Individualized Medicine and has a special interest in epigenetic dysregulation in myeloid malignancies.
Dr. Patnaik has had numerous publications and scientific contributions in myeloid neoplasms, especially myelodysplastic Syndromes and chronic myelomonocytic leukemia (CMML). He has documented the adverse prognostic impact of ASXL1 gene mutations in myeloid neoplasms. This seminal work has resulted in the development of the Molecular Mayo Prognostic model for patients with CMML. He has currently been awarded the CTSA KL2 award for furthering his training in epigenetics and cancer biology. He has also received the Margret Landenberg Foundation award for studying the effect of oncolytic viruses in blood cancers. He serves as a clinical consultant in hematological malignancies and allogeneic stem cell transplantation, and is the current program director for the Bone Marrow Transplant Fellowship.
Ram Samudrala is Professor and Chief, Division of Bioinformatics in the Department of Biomedical Informatics at the State University of New York, Buffalo in 2014, researching multiscale modelling of atomic, molecular, cellular, and physiological systems, with an emphasis on protein and proteome structure, function, interaction, design, and evolution. His work has led to more than 125 publications in journals such as Science, Nature, PLoS Biology, the Proceedings of the National Academy of Sciences, and the Journal of the American Medical Association. Samudrala joined the University of Washington faculty in 2001 after completing his doctoral research with John Moult at the Center for Advanced Research in Biotechnology in 1997, and his postdoctoral research with Michael Levitt (2013 Nobel in Chemistry) at Stanford University in 2000, which resulted in him making some of the best predictions at the first three community-wide assessment of protein structure prediction (CASP) experiments. In 2002, he received a Searle Scholar Award which funds exceptional young scientists, was named one of the world's top young innovators (TR100) by MIT Technology Review in 2003, and was selected to present the University of Washington New Investigator Science in Medicine Lecture in 2004. In 2005, he received a NSF CAREER Award which recognizes "outstanding scientists and engineers who show exceptional potential for leadership at the frontiers of knowledge". In 2008, he received the Alberta Heritage Foundation for Medical Research Visiting Scientist Award. In 2010, he received the NIH Director's Pioneer Award for his Computational Analysis of Novel Drug Opportunities (CANDO) platform, which aims to screen all drugs against all protein structures to discover new repurposeable therapeutics in a shotgun manner for all indications/diseases. The platform has been prospectively validated for a dozen indications in vitro, with more ongoing in vitro, in vivo, and in the clinic.
Dr. Scott is an Assistant Professor in the Department of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai, New York, and is an ABMGG-certified Director of the Mount Sinai Genetic Testing Laboratory (MGTL). As the Pharmacogenomics Division Head at the MGTL, he oversees the clinical pharmacogenetic test menu, including assay development, interpretation, and reporting. His research interests have focused on translational molecular biology, particularly in the areas of pharmacogenomics, epigenomics, and cytogenomics. Collaborative research projects are currently centered on cardiovascular pharmacogenomics, multi-ethnic pharmacogenetic allele discovery and population profiling, and the development of next-generation sequencing methods for pharmacogenomic research and clinical testing. His group has made novel discoveries with anticoagulant and antiplatelet pharmacogenetics, characterized novel CYP450 alleles in various ethnic and racial groups, and participated in the NHLBI-funded COAG warfarin pharmacogenetics trial as a clinical site. Additional projects are ongoing with the Institute for Personalized Medicine (IPM) at Mount Sinai, interrogating the BioMe biobank for pharmacogenomic discovery, as well as implementing pre-emptive clinical pharmacogenetic testing among BioMe patients. Consistent with his clinical training and research interests, Dr. Scott has co-authored Clinical Pharmacogenetics Implementation Consortium (CPIC) practice guidelines and actively participates in several other clinical genomics and/or pharmacogenomics consortia (e.g., eMERGE-PGx, ClinGen, PharmCAT). He currently has research support through a PGRN K23 Translational Scholar Career Award in Pharmacogenomics and Personalized Medicine from the NIH/NIGMS and recent honors include the 2011 William Bowes Jr. Award in Medical Genetics, sponsored by the Partners Healthcare Center for Personalized Genetic Medicine at Harvard Medical School, and the 2012 Dr. Harold and Golden Lamport Research Award for junior faculty, sponsored by the Icahn School of Medicine at Mount Sinai.
Dr. Tropini is a postdoctoral fellow at Stanford University in the department of Microbiology and Immunology. She received her Ph.D. from the Stanford School of Medicine Biophysics program and earned her honors B.Sc. degree in biophysics at the University of British Columbia.
Dr. Tropini's interests lie at the nexus of medicine, biophysics and engineering. Working in the field of the gut microbiota, she is applying novel tools to longstanding questions regarding the stability of microbial communities and their response to perturbations during disease. By combining imaging, microfluidics and computational techniques to animal studies, she is building a comprehensive and quantitative understanding of the complex interactions between microbes and their hosts. Dr. Tropini has authored numerous journal articles, and is a patent holder for developing microfluidic devices and other biotechnologies. She is keenly interested in teaching and outreach, particularly with the goal of building a common language between physicists, biologists and doctors.
Dr. Tropini is the recipient of various awards including the James S. McDonnell postdoctoral fellowship award and the Stanford interdisciplinary graduate fellowship.
Dr. Vasmatzis is the co-director of the Biomarker Discovery Program within the Center for Individualized Medicine. In addition to earning a doctorate in biomedical engineering, he has acquired experience in diverse disciplines, including bioinformatics, molecular biology and computational biology. His research team consists of bioinformatics specialists, molecular biologists, epidemiologists and pathologists.
Dr. Vasmatzis' laboratory has demonstrated success in discovery and translation of several biomarkers as well as developing evidence-based models that should help clinicians stratify patients with cancer in order to provide each individual with the appropriate care. With the recent advances in next-generation sequencing technologies, the laboratory has become engaged in massive sequencing to scan the genome of cancer cells for abnormalities that can be used for clinical purposes such as diagnosis and stratification of patients for optimal treatment. Published papers in the Journal of Clinical Oncology, Cancer Research and Blood further demonstrate the lab's discovery, validation and translation capabilities.
Adrienne completed her Ph.D. in Molecular, Cellular, Developmental Biology and Genetics at the University of Minnesota under the direction of Dr. David Largaespada. She utilized the Sleeping Beauty transposon system to conduct a forward genetic screen in mice to uncover hundreds of genes involved in Schwann cell tumor development and generated several mouse models of NF1 and NF1-related malignancies, elucidating novel genetic pathways, and candidates for targeted cancer therapy in NF1. After completing her postdoctoral studies at the University of Minnesota she joined Recombinetics, Inc., a company based in St. Paul, Minnesota which uses gene-editing technology to create large animal models of human disease, where she has developed a swine model of NF1.
Dr. Weinshilboum joined the staff of Mayo Clinic in Rochester, MN, in 1972 after earning his M.D. degree at the University of Kansas School of Medicine. He completed residency training in internal medicine at Massachusetts General Hospital — a Harvard teaching hospital — and a postdoctoral research fellowship at the National Institutes of Health in the laboratory of Nobel laureate Julius Axelrod.
He holds the academic rank of Professor of Medicine and Pharmacology at Mayo Clinic College of Medicine and he holds the Mary Lou and John H. Dasburg Professor of Cancer Genomics.
Dr. Weinshilboum is recognized as an internationally renowned medical investigator, with more than 400 peer-reviewed articles and chapters and many awards, including the Mayo Distinguished Investigator and Distinguished Educator awards.
His research has focused on pharmacogenetics and pharmacogenomics, study of the role of inheritance in individual variation in response to drugs. His research resulted in the discovery and characterization of a series of clinically important genetic polymorphisms (variations in DNA sequence involved in drug, neurotransmitter and hormone metabolism), the functional characterization of these common genetic polymorphisms, and the rapid translation of that information into clinical studies designed to test hypotheses with regard to individual variation in drug response or disease pathophysiology.
This research has also made it possible to develop molecular tests that help protect patients from life-threatening, genetically mediated adverse drug reactions
Dr. Weinshilboum has chaired the Pharmacogenomics Research Network, a National Institutes of Health-funded initiative that includes scientists from Mayo Clinic, Harvard University and Stanford University, among others. This group of network scientists performs collaborative studies of the role of inheritance in variation in drug response.
He is past member of the advisory councils for the National Institute of General Medical Sciences and the National Human Genome Research Institute, the sponsor of the Human Genome Project.