• Sunday, September 20, 2015

  • Monday, September 21, 2015

    • 7:00 AM - 3:00 PM Registration

    • 7:00 AM - 8:00 AM Breakfast

    • 8:00 AM - 8:30 AM Introductions, Welcome, Tour of conference app
      Cathy Wurzer, Minnesota Public Radio (Moderator)
      Keith Stewart, MB, ChB, Mayo Clinic

    • 8:30 AM - 9:15 AM Gianrico Farrugia, MD, Mayo Clinic

      “Integrating Precise, Personal, and Individualized Medicine Into Routine Practice”
      0.75 CME
      0.075 CEU
      0.75 CPE
      0.75 CNE

    • 9:15 AM - 10:00 AM Patricia LoRusso, DO, Yale Cancer Center 0.75 CME
      0.075 CEU
      0.75 CPE
      0.75 CNE

    • 10:00 AM - 10:30 AM Networking Break

    • 10:30 AM - 11:15 AM Vincenzo Costigliola, MD, & Olga Golubnitschaja MD
      European Association for Predictive, Preventive & Personalised Medicine

      “Healthcare Overview: New Perspectives” and “The Paradigm Shift From Reactive to Predictive, Preventive and Personalized Medicine: Innovative European Concepts and Initiatives”
      0.75 CME
      0.075 CEU
      0.75 CPE
      0.75 CNE

    • 11:15 AM - 12:00 PM Stephen Friend, MD, PhD, Sage Bionetworks

      “Clues to Solve the Puzzles of Dementia, Parkinson’s Disease, and Cancer”
      0.75 CME
      0.075 CEU
      0.75 CPE
      0.75 CNE

    • 12:00 PM - 1:00 PM Lunch

    • 1:00 PM - 2:45 PM Concurrent Session 1A Integrating Tumor Genomics into Clinical Research.

      This session will discuss the impact of genomic technology on clinical trial design and biomarker development. We will explore the challenges of designing trials that incorporate genomic knowledge including regulatory considerations, engaging with industry, and establishing the utility of biomarkers.
      1.75 CME
      0.175 CEU
      1.75 CNE

      • Alan Bryce, MD, Mayo Clinic (Moderator)
      • Patricia LoRusso, DO, Yale Cancer Center
        • “Integrating Precise, Personal, and Individualized Medicine Into Routine Practice”
      • Jonathan Rosenberg, MD, Memorial Sloan Kettering Cancer Center
        • “Individualizing Treatment for Urothelial Carcinoma: Studying Extreme Response to Maximize Outcomes”
      • Jeff Karnes, MD, Mayo Clinic
        • “Low-risk Prostate Cancer: Separating the "bad" from the "good"”
    • 1:00 PM - 2:45 PM Concurrent Session 1B Predictive Genomics in Clinical Practice

      This session will examine the opportunities and challenges of implementing large scale sequencing of healthy people in a clinical practice.
      1.75 CME
      0.175 CEU
      1.75 CNE

    • 1:00 PM - 2:30 PM Concurrent Session 1C Pharmacogenomics: Discovery to Implementation

      This session will cover many aspects of pharmacogenomics in the clinical practice including: cardiovascular disease, outcomes analysis from psychiatry, and creative use of medical record data to uncover drug-gene interactions.
      1.75 CME
      0.175 CEU
      1.75 CPE
      1.75 CNE

      • Richard Weinshilboum, MD, Mayo Clinic (Moderator)
      • C. Anthony Altar, PhD, Neuroscience, AssureRx Health, Inc.
        • “Pharmacogenomics in Psychiatry: Discovery, Implementation, and Benefits to Patients and Payers”
      • Rex Chisholm, PhD, Northwestern University
        • “Discovery and Implementation using an HER linked biobank: The eMerge experience”
      • Naveen Pereira, MD, Mayo Clinic
        • “Progress in Cardiovascular Pharmacogenomics: Incorporating Bench Discoveries to the Bedside”
    • 1:00 PM - 2:45 PM Concurrent Session 1D Beyond the Exome in Many Directions

      Exome analysis has become standard clinical practice in cancer and prenatal testing. This session will provide insights into current and emerging trends in transcriptome analysis, proteomics, and in vivo imaging. Discussion will focus on how developments in each of these fields are poised to enter clinical practice as valuable tools in the pursuit of precision medicine.
      1.75 CME
      0.175 CEU
      1.75 CNE

      • Derek Wildman, PhD, Professor, Department of Molecular & Integrative Physiology, University of Illinois at Urbana-Champaign, The Carl R. Woese Institute for Genomic Biology. (Moderator)
      • Steven Boppart, MD, PhD, University of Illinois at Urbana-Champaign
        • "Using Light for Individualized Imaging and Diagnosis at the Point-of-Care"
      • Jun S. Song, PhD, University of Illinois at Urbana-Champaign
        • “Unraveling the Mechanism of Mutant TERT Promoter Activation Across Multiple Cancer Types”
      • Jim Heath, PhD, California Institute of Technology
        • “Single Cell Functional Proteomics for Guiding Personalized Therapy Decisions in Select Cancers”
      • Athena Aktipis, PhD, Arizona State University
        • “Cooperation, Conflict and the Promise of Comparative Oncology”
    • 1:00 PM - 2:30 PM Concurrent Session 1E Industry Perspective for Individualizing Medicine, Part I

      • Chris Shad, Mayo Clinic (Moderator)
      • Agena Bioscience
        • Robin Everts, Ph.D., Manager, Applications and Technology Support
          • “Actionable Multiplexed Panels for Pharmacogenomic Profiling and Ultra-Sensitive Somatic Mutation Detection Using the MassARRAY® System by Agena Bioscience™”
      • Illumina
        • Chris Black, Illumina
          • “Exploring Genomic Solutions for Clinical Research: Emerging Assays and Applications”
      • AltheaDx
        • Marilyn Olson, PhD, Vice President of Scientific Affairs
          • “Application of Cardiovascular and Neuropsychiatric Pharmaogenetic Testing in Clinical Practice”
      • GenomOncology
        • Manuel Glynias, President and CEO
          • “Many Tests, One Report: Integrating NGS with FISH and Cytogenetics for Clinical Application”
    • 2:45 PM - 3:15 PM Break

    • 3:15 PM - 5:00 PM Concurrent Session 2A Individualizing Cancer Therapy – Hematological Malignancies

      This session will discuss application of next- generation sequencing in lymphoid malignancies and explore molecular and immune therapeutic targets for hematological malignancies.
      1.75 CME
      0.175 CEU
      1.75 CNE

    • 3:15 PM - 5:00 PM Concurrent Session 2B WES & Still No Dx: What is Next for Patients on a Diagnostic Odyssey?

      Currently, using whole exome sequencing (WES) for patients with an undiagnosed genetic disease is yielding a diagnosis rate of 25-30%. What can be done to further improve this yield? This session will bring together experts who discuss approaches that look beyond WES testing to help further characterize these remaining unsolved cases.
      1.75 CME
      0.175 CEU
      1.75 CNE

    • 3:15 PM - 5:00 PM Concurrent Session 2C Genomic Information: Wanting What You Get vs. Getting What You Want

      This session will examine the challenges in determining what genomic data is considered reportable in clinical and research settings, consider the extent to which patient requests for genomic data can or should be accommodated in the current medical environment, and define the key ethical and legal tensions in reporting genomic data.
      1.75 CME
      0.175 CEU
      1.75 CNE

    • 3:15 PM - 5:00 PM Concurrent Session 2D Pharmacogenomics Implementation at the Bedside: What Works, What Doesn’t?

      Although pharmacogenomics has been implemented at the bedside, challenges still exist. This session will examine the experiences of different institutions and their production of pharmacogenomics rules, current drugs, laboratory reports, ordering systems, information for prescribing, and staff education. We will discuss these experiences, examine successes, and identify further challenges and solutions.
      1.75 CME
      0.175 CEU
      1.75 CPE
      1.75 CNE

      • Christine Formea, PharmD, BCPS, Mayo Clinic (Moderator)
      • Kris Crews, PharmD, FCCP, St. Jude Children’s Research Hospital
        • “A Pre-emptive Model for Implementing Pharmacogenomics Institution-Wide”
      • Wayne Nicholson, MD, PharmD, Mayo Clinic
        • “Pharmacogenomics Implementation at the Bedside: Mayo Clinic Experience”
      • Josh Peterson, MD, Vanderbilt
        • “PREDICT: Lessons from Five Years of Pharmacogenomics Implementation”
      • Kristin Weitzel, PharmD, University of Florida College of Pharmacy
        • “Pharmacogenomics Implementation at the Bedside”
    • 3:15 PM - 5:00 PM Concurrent Session 2E Industry Perspective for Individualizing Medicine, Part II

      • Chris Schad, Mayo Clinic (Moderator)
      • GenoSpace
        • Mick Correll, CEO & Co-Founder of GenoSpace
          • “Creating an Information Ecosystem for Precision Medicine”
      • Assurex Health
        • Melissa Geyer, PhD, Assurex Health
          • “Interpreting the GeneSight Psychotropic Report”
      • Strand Life Sciences
        • Harsha Rajasimha, Vice President of Marketing Strand Life
          • “Precision Medicine Capabilities to Enable Community Cancer Care”
      • Affymetrix
        • Anthony Schweitzer, Principal Scientist and Head of Bioinformatics, Affymetrix Expression Business Unit
          • “Uncovering Biomarkes Deep within the Human Transcriptome”
      • Genomic Health
        • Joe Anderson, MD, Development Pathology Director
          • “Turning the Promise of Genomics into the Practice of Medicine”
    • 5:00 PM - 7:00 PM Poster Session and Reception

  • Tuesday, September 22, 2015

    • 7:00 AM - 3:00 PM Registration Open

    • 7:00 AM - 8:00 AM Breakfast

    • 8:00 AM - 8:15 AM Welcome
      Cathy Wurzer, Minnesota Public Radio

    • 8:15 AM - 9:00 AM Stephen R. Quake, PhD, Stanford

      “Molecular Stethoscope”
      0.75 CME
      0.075 CEU
      0.75 CPE
      0.75 CNE

    • 9:00 AM - 9:45 AM Ernest (David) Litwack, PhD, FDA

      “Next Generation Sequencing and the Precision Medicine Initiative”
      0.75 CME
      0.075 CEU
      0.75 CPE
      0.75 CNE

    • 9:45 AM - 10:15 AM Networking Break

    • 10:15 AM - 11:00 AM Edison Liu, MD, The Jackson Laboratory
      • "Systems Genomics in Cancer Medicine"
      0.75 CME
      0.075 CEU
      0.75 CPE
      0.75 CNE

    • 11:00 AM - 11:45 AM J. Craig Venter, PhD

      "Human Genomics and the Future of Medicine"
      0.075 CEU

    • 11:45 AM - 12:00 PM Alex Parker, PhD, Mayo Clinic
      • “Plenary Highlights”

    • 12:00 PM - 1:00 PM Lunch

    • 1:00 PM - 2:45 PM Concurrent Session 3A Cell-Free DNA: Efficient Translation of Laboratory Research into Clinical Practice

      Tumor specific molecular alterations increasingly plays a part in drug selection and prognosis in cancer. The advent of technologies that allow for the detection of specific mutations in cell free DNA (cfDNA) isolated from the peripheral blood has increased interest in the “liquid biopsy”. This has immediate applications in melanoma and colorectal cancer with the potential for utility in all solid tumor malignancies. cfDNA assays offer a less invasive, potentially more cost effective tool for the early diagnosis of recurrence or as a marker of prognosis and response to treatment. This session will discuss the challenges of validating these molecular biomarkers and provide solutions to promote rapid translation into clinical practice.

      • Minetta Liu, MD, Mayo Clinic (Moderator)
      • Robert McCormack, PhD, Janssen Oncology, R&D
        • “Diagnostic Innovation: Delivering on Personalized Medicine in the Era of Evidence-Based Medicine”
      • Phillip Febbo, MD, Genomic Health
        • “Liquid Biopsy" A Necessary Tool for "Precision Cancer Medicine"”
    • 1:00 PM - 2:45 PM Concurrent Session 3B The Genomics of Dementia

      Alzheimer’s disease and related dementing illnesses are among the greatest health care challenges due to its prevalence, frequency, and ineffective therapy. Multiple genetic risk factors have been identified, yet there remain early onset cases without familial associations. This session will review the known genetic associations of the major dementias, discuss research activity regarding the discovery of additional genetic risk factors, and engage the participants in a survey regarding predictive testing for Alzheimer’s disease.
      1.75 CME
      0.175 CEU
      1.75 CNE

      • Eric Reiman, MD, Banner Alzheimer’s Institute (Moderator)
      • Richard Caselli, MD, Mayo Clinic
        • “Public's Perception of Presymptomatic Testing for Alzheimer’s Disease”
      • Matthew Huentelman, PhD, Translational Genomics Research Institute
        • “Living on the Edge: The Search for an Understanding of Dementia in Phenotypic Outliers”
      • Nilüfer Ertekin-Taner, M.D., Ph.D., Mayo Clinic
        • “Combined – Omics Approaches in Gene Discovery and Characterization in Alzheimer’s Disease”
    • 1:00 PM - 2:45 PM Concurrent Session 3C The Role of Individualized Medicine in Value-Based Care

      Value-based health care is a patient-centered model that focuses on improving outcomes while reducing costs. Individualized medicine may provide value through more effective, patient-specific therapies and reducing the need for further testing and eliminating ineffective treatments. In this forum, experts in the field on the production of value in individualized medicine will discuss the opportunities and limits of individualized medicine in value-based care. This session will be conducted in conjunction with Mayo Clinic Center for the Science of Health Care Delivery, whose priorities include demonstrating the value of care delivered at Mayo Clinic.
      1.75 CME
      0.175 CEU
      1.75 CPE
      1.75 CNE

      • Veronique Roger, MD, Mayo Clinic (Moderator)
      • Katherine Payne, PhD, University of Manchester
        • “Evaluating the Costs and Benefits of Stratified Medicine: Some Applied Examples”
      • Kathryn Phillips, PhD, University of California, San Francisco
        • “Show Me the Money: Why Demonstrating the Value of Personalized Medicine is Critical”
      • Dhruv Kazi, MD, MSc, MS, FACC, FAHA, San Francisco General Hospital
        • “The Cost-Effectiveness of Individualized Medicine: Demonstrating Value in a Cost-Sensitive World Case Studies from Cardiovascular Medicine”
    • 1:00 PM - 2:45 PM Concurrent Session 3D Epigenomics: Path to Clinical Testing

      Epigenomics is a rapidly emerging scientific discipline which seeks to define how genes across the entire human genome are turned on and off to produce distinct normal and diseased phenotypes. Recent developments in epigenomic technology and pharmacology have raised the possibility of incorporating epigenomic assays into the clinical diagnostic arsenal as tools to identify and detect novel biomarkers of disease and to support individualized treatment with drugs targeting epigenetic regulators. This session will review ongoing efforts to bring epigenomic testing into the clinic.
      1.75 CME
      0.175 CEU
      1.75 CNE

      • Grzegorz Nowakowski, MD, Mayo Clinic (Moderator)
      • Javad Khan, MD, National Institutes of Health
        • “Cancer Genomics to Identify Novel Biomarkers and Drivers and to Enable Precision Therapeutics”
      • Tamas Ordog, MD, Mayo Clinic
        • “Implementing Epigenomic Testing in Individualized Patient Care: The Mayo Clinic Experience”
      • Raul Urrutia, MD, Mayo Clinic
        • “The Promise of Epigenomics in Medical Research and Practice”
      • John B Kisiel, PhD, Mayo Clinic
        • “Aberrantly methylated DNA for early cancer detection: A journey beyond the colon by next-generation sequencing”
      • Manolis Kellis, PhD, MIT/Broad Institute
        • “From Genomics to Medicine: Targeting the Regulatory Genome in GWAS & Cancer”
    • 2:45 PM - 3:15 PM Networking Break

    • 3:15 PM - 5:00 PM Concurrent Session 4A Clinical RNA Seq

      In this session, participants will learn how RNA-Seq is performed, how to the data is analyzed, and how test results are used clinically in the management of patients with cancer and other disorders
      1.75 CME
      0.175 CEU
      1.75 CNE

      • Kevin Halling, MD, PhD, Mayo Clinic (Moderator)
      • Cole Trapnell, PhD, University of Washington Genome Sciences
        • “RNA-Seq: Getting to Clinical Data You Can Interpret and Believe”
      • Chris Maher, PhD, The Genome Institute
        • “Gene Fusion Discovery: Ensuring Clinically Relevant Events are Detected and Prioritized”
      • Robert Bradley, PhD, Fred Hutchinson Cancer Research Center
        • “Hidden Biases Confound Leukemia Genomics Studies”
      • Kevin Halling, MD, Mayo Clinic
        • “Development and Validation of a Clinical RNA-Seq Assay for the Detection of Gene Fusions in Cancer”
    • 3:15 PM - 5:00 PM Concurrent Session 4B Is There a Genomic Future for Newborn Screening?

      Rapidly evolving genomic sequencing technologies promise to provide unprecedented knowledge about genetic diagnoses, drug metabolism, complex disease risk, and carrier status for genetic conditions. Newborn screening is a public health program that aims to reduce mortality and morbidity of infants through the early identification and management of treatable genetic conditions. The application of massively paralleled DNA sequencing technologies to newborns has the potential to change the current newborn screening paradigm. In this concurrent session, national experts will discuss their research on infantile genomic sequencing applications covering neonatal care, the acquisition and analysis of genomic datasets, and the ethical, legal, and social issues related to the implementation of genomic sequencing of newborns.
      1.75 CME
      0.175 CEU
      1.75 CNE

      • Devin Oglesbee, PhD, Mayo Clinic (Moderator)
      • Carol Saunders, PhD, FACMG, Mercy Children’s Hospital
        • “Neonatal Genomic Medicine”
      • Holmes Morton, MD, Clinic for Special Children
        • “Newborn Screening in the Time of Genomics: Medical Homes for High Risk Underserved People: A Sense of Progress 1988-2015 DH Morton”
      • Cindy Powell, MD, University of North Carolina at Chapel Hill
        • “Genomics and Newborn Screening”
    • 3:15 PM - 5:00 PM Concurrent Session 4C Case-Based Applications of Genomics in Primary Care

      Genomic medicine is emerging at the forefront of improved disease risk assessment and treatment, including drug selection and dosing. As such, primary care providers are already integrating these new approaches into practice. This session will provide case-based applications illustrating the integration of genomic advances in preconception and prenatal testing, predictive genomics, and pharmacogenomics within the primary care setting. The session will provide practical guidance on when and how to use genomic medicine in the primary care setting.
      1.75 CME
      0.175 CEU
      1.75 CPE
      1.75 CNE

    • 3:15 PM - 5:00 PM Concurrent Session 4D Gut Microbiota at the Interface of Health and Disease

      The invention of the microscope long ago allowed us to understand how bacteria can cause and transmit infections in people. Now, using genomic sequencing, we are discovering communities of bacteria known as the human microbiome do much more for us than we ever imagined. This state-of-the-art session will provide attendees with information regarding the relevance of microbiome in human health. Emphasis will be placed on the role of gut microbes in mediating diseases such as Clostridium difficile colitis and autism and their relevance to current therapies.
      1.75 CME
      0.175 CEU
      1.75 CNE

      • Heidi Nelson, MD, Mayo Clinic (Moderator)
      • Lee Kaplan, MD, PhD, Harvard
        • “Gut Microbiota and Energy Balance”
      • Eric Pamer, MD, Memorial Sloan Kettering Cancer Center
        • “Microbiota-Mediated Defense Against Intestinal Infections”
      • John C. Alverdy, MD, FAC, University of Chicago Medical Center
        • “The Intestinal Microbiota Play a Key and Contributory Role in the Pathogenesis of Anastomotic Leak”
    • 3:15 PM - 5:00 PM Concurrent Session 4E Industry Perspective for Individualizing Medicine, Part III

      • Chris Schad, Mayo Clinic (Moderator)
      • Sean Scott, VP, GM, QIAGEN
        • “Enabling Precision Oncology with Next-Generation Technologies—From Sample to Insight”
      • Justin Kao, SVP, Helix
        • “Helix empowers individuals to discover insights into their genomes Through a vibrant ecosystem of high-quality content partners”
      • Garrett Frampton, PhD, Foundation Medicine
        • “Diverse MET Exon 14 Splicing Alterations Occur in Multiple Tumor Types and Confer Clinical Sensitivity to MET Inhibitors”
      • Niko Tsatsos, PhD, Douglas Scientific
        • “Pharmacogenomics Testing Using Array Tape”
      • Andro Hsu, Syapse
        • “The ‘Last Mile’ in Individualized Medicine: Integrating Clinical & Molecular Data to Provide Decision Support at Point of Care”
  • Wednesday, September 23, 2015

    • 7:00 AM - 8:00 AM Breakfast

    • 7:00 AM - 8:00 AM Epigenomics and Microbiome Poster Session

    • 8:00 AM - 12:30 PM Focus Sessions with Break

    • 8:00 AM - 12:30 PM Focus Session 1 Advances in Individualized Immunotherapy and Monitoring

      Cancer Immunotherapy – training the patients’ own immune system to attack and eradicate cancer cells – unleashes weak and suppressed immune responses against self-antigens to kill cancer cells. Several routes of immunotherapy including adoptive cell transfer using ex vivo expansion of tumor-infiltrating lymphocytes, peptide vaccines using ex vivo cultured dendritic cells, and engineered cytotoxic effector cells expressing chimeric antigen receptors have shown promising results in up to 30% of patients. Recently, cancer immunotherapy based on blockade of the CTLA-4 and PD1 negative regulatory receptors, defined in part and tested clinically at Mayo Clinic. Unfortunately, even when successful, most patients derive transient benefit from check-point blockade. Consequently, new approaches are needed to build on these recent advances. Our distinguished speakers will discuss such challenges and possible solutions in immunotherapy including monitoring therapeutic response and measuring tumor DNA shed in blood.

      • Jin Jen, PhD, and Irina Kovtun PhD, Mayo Clinic (Moderators)
      • Svetomir Markovic, MD, PhD, Mayo Clinic
        • “Advances in Individualized Immunotherapy of Cancer: Our Experience with Malignant Melanoma”
      • Mike Barrett, PhD, Mayo Clinic
        • “The ‘PDJ’ Amplicon Targeting PD-L1, PD-L2, and JAK2, is Enriched in High-Risk Triple Negative Breast Cancer”
      • Karen S. Anderson, MD, PhD, Mayo Clinic “Epitope Discovery for Vaccine Development”
        • “Epitope Discovery for Vaccine Development”
      • Larry Pease, PhD, Mayo Clinic
        • “Cancer Immune Phenotype Identified using Individualized Molecular Immune Response Signatures”
      • Muhammed Murtaza, MBBS, MD, PhD, Mayo Clinic
        • “Analysis of circulating tumor DNA to monitor metastatic cancer”
      • Maximilian Diehn, MD, PhD, Stanford University
        • “Deep Sequencing of Circulating Tumor DNA for Personalized Cancer Detection and Monitoring”
    • 8:00 AM - 12:30 PM Focus Session 2 Resources to Support Genomic Medicine

      Genomic medicine programs, including pharmacogenomics, are becoming widespread. A variety of resources have been developed to facilitate the implementation of genomic medicine programs within existing clinical information systems. This focus session will review public resources developed by NIH-funded research programs such as the PGRN, eMERGE, CSER, IGNITE, ClinGen, and CPIC, as well as supporting standards from HL7, RxNorm, and LOINC. Together, these resources reduce barriers to the implementation of scalable genomic medicine through the development of knowledge bases, clinical guidelines and decision support tools, and common data models and terminologies.

      You should attend this focus session if you are involved in the technical implementation of systems to support a genomic medicine program, the management or delivery of clinical genomic knowledge, or the translation of genomic research into clinical practice. Attendees will learn about resources to support genomic medicine and discuss some of the challenges and opportunities that remain.

      • Robert R. Freimuth PhD, Mayo Clinic (Moderator)
      • Casey Overby, PhD, University of Maryland
        • “Infrastructure to Share Genomic Medicine Content and Implementations: The CDS Knowledge Base Project”
      • Josh Peterson, MD, Vanderbilt
        • “Infrastructure to Share Genomic Medicine Content and Implementations: The CDS Knowledge Base Project”
      • Bob Milius, National Marrow Donor Program
        • “HL7 Clinical Genomics: Developing Standards for Exchanging Genomic Data”
      • Larry Babb, GeneInsight
        • “Resources to Support Genomic Medicine”
      • Robert R. Freimuth PhD, Mayo Clinic
        • “Pharmacogenomic CDS: Clinical Guidelines to Implementation”
    • 8:00 AM - 12:30 PM Focus Session 3 Functional Genetic Strategies for Clinical Diagnosis and Treatment

      Two primary challenges facing individualized medicine are understanding the clinical relevance of variants of uncertain significance (VUS) in patient health and disease, and using a patient’s genetic profile to guide therapy in the absence of standard of care. This session will cover current methods for characterizing genetic variants using model systems and how genetic models can be used to discover novel therapeutic approaches.

      • Eric Klee, PhD and Karl Clark, PhD, Mayo Clinic (Moderators)
      • Anthony Antonellis, PhD, University of Michigan
        • “The Role of Aminoacyl-tRNA Synthetases in Human Disease”
      • Diane Slusarski, PhD, University of Iowa
        • “Functional Characterization of the Bardet-Biedl Syndrome 1 Mutation in Zebrafish”
      • Nicole Boczek, PhD, Mayo Clinic
        • “Utilizing Patch-Clamp Technique to Functionally Validate Novel Ion Channel Mutations”
      • Jason Rihel, PhD, University College, London
        • “Behavioral, Neurodevelopmental, and Pharmacological Phenotyping of Zebrafish Models of Autism”
      • Sangeetha Iyer, PhD, Perlstein Lab
        • “A Model Organism Platform Approach for Personalized Drug Discovery”
      • Andrew Badley, MD, Mayo Clinic
        • “Promoting the Translation of Scientific advances into clinical Practice”
    • 8:00 AM - 12:30 PM Focus Session 4 Epigenomics-to-Practice: Neuroepigenomics

      Epigenomics is a rapidly emerging scientific discipline which seeks to define how genes across the entire genome are turned on and off in response to genetic, environmental and lifestyle factors to produce distinct normal and diseased phenotypes. Recent developments in epigenomic technology provide an unprecedented opportunity to understand the pathogenesis of human disease including neurodegenerative diseases. This session will highlight cutting-edge research unraveling the role of genome-wide epigenetic changes in neurological disease affecting the central, peripheral and autonomic nervous systems.

      • Keith Robertson, PhD, Mayo Clinic (Moderator)
      • Philip De Jager, MD, PhD, Brigham and Women's Hospital
        • “Deconstructing the Epigenomic Architecture of Neurodegenerative Disease”
      • Christopher Klein, MD, Mayo Clinic
        • “Defects of the Maintenance Methyltransferase DNMT 1 Lead to Progressive Neurological Phenotypes in Association with Global Hypomethylation and Local Hypermethylation”
      • Menno Creyghton, PhD, Hubrecht Institute
        • ”Epigenomic analysis of the human brain during development and disease”
      • Raul Urrutia, MD, Mayo Clinic
        • “Role of the Histone Code Reader, HP1, in NGF-Induced Neuronal Cell Differentiation”
      • Tamas Ordog, MD, Mayo Clinic
        • “Ezh2-mediated H3K27me3 in Mesenchymal Cells Controls a Molecular Switch Between Modes of Enteric Neuromuscular Regulation”
      • Manolis Kellis, PhD, MIT
        • “Genetics, Genomics, and Epigenomic Variation of Alzheimer’s Disease”
    • 8:00 AM - 12:30 PM Focus Session 5 Microbiome and Metabolomics

      Join us for a half-day workshop as we explore the interface between the microbiome and human health using metabolomics. Attendees will obtain state-of-the-art information regarding the relevance of microbiome in human health. Emphasis will be placed on importance of understanding microbial metabolism and the role of microbiota derived metabolites on host function.

      • Purna Kashyap, MBBS, Mayo Clinic (Moderator)
      • Elaine Holmes, MD, Imperial College, London
        • “Systems Medicine Approaches to Understanding Diseases”
      • Arul Jayaraman, PhD, Texas A&M
        • “Identification and Characterization of Bioactive Microbiota Metabolites”
      • Neha Garg, PhD, University of California, San Diego
        • “Spatial Microbial and Molecular Ecology of Cystic Fibrosis Explant Lungs”
      • Mei Ran Ubellona U, BSc, Imperial College, London
        • “Impact of Mode of Delivery and Type of Feeding on Gut Microbial Composition and Metabolomic Activity in Early Preterm Infants”
      • Vanessa Hale, PhD, Mayo Clinic
        • “A Subset of Patients with Non-Infectious Diarrhea have Altered Gut Microbiota Similar to C. Difficile Infection”
      • Tonya Ward, PhD, University of Minnesota
        • “BugBase: A Tool for Predicting High Level Phenotypes in Microbiome Samples”
      • Dylan Dodd, PhD, Stanford University
        • “Discovery of Aromatic Amino Acid Fermentative Pathways in Gut Bacteria That Contribute to Pools of Circulating Metabolites in the Host”
      • Cecilia Noecker, PhD, University of Washington
        • “Integrative, Mechanistic, Multi-omic Analysis of the Human Microbiome”
    • 8:00 AM - 12:30 PM Focus Session 6 Metabolomics-informed Pharmacogenomics

      Presentations in this session will focus on individual variation in drug response and ways in which basic and clinical investigators can utilize Pharmacometabolomics to “inform” Pharmacogenomics--to make it possible to predict response to drug therapy, and to understand underlying mechanisms of drug action.

      • Liewei Wang, MD, PhD, Mayo Clinic (Moderator)
      • Rima Kaddurah-Daouk, PhD, Duke University
        • “Metabolomics, Pharmacometabolomics: Enabling Tools for Precision Medicine”
      • Joshua P. Lewis, PhD, University of Maryland
        • “Integration of Omics Approaches Reveals Novel Insights Into AntiPlatelet Therapy Response”
      • Thomas Hankemeier, Prof Dr. Leiden Academic Centre for Drug Research
        • “Studying Individual Differences in Cancer Drug Efficacy Using Cell Lines Derived from Patients”
      • K Sreekumaran Nair, Md, PhD, Mayo Clinic
        • “Metabolome – Concentrations and Flux Measurements”
    • 8:00 AM - 12:30 PM Focus Session 7 Big Data to Knowledge (BD2K) Consortium Activities

      The NIH-funded BD2K Centers have the mission of developing and disseminating scalable algorithms for transmitting, accessing, analyzing, and interpreting biomedical Big Data that are directly relevant to data-driven discovery in medicine. This focus session will discuss the key challenges that each participating Center is tackling and brainstorm how to synergize national efforts in Big Data science by promoting innovative collaboration opportunities. This session will provide an invaluable opportunity to engage medical community leaders in a dialogue with the computational researchers leading the BD2K Consortium.

      • Jun S. Song, PhD, and Saurabh Sinha, PhD, University of Illinois at Urbana-Champaign (Moderators)
      • Jiawei Han, Phd, University of Illinois at Urbana Champaign
        • “Towards Construction and Mining of Biological Information Networks from Text Data”
      • Mario Medvedovic, PhD, University of Cincinnati
        • “BD2K-LINCS Data Coordination and Integration Center: Big Data Science for Molecular Signatures of Cellular Perturbations”
      • Ian Foster, PhD, University of Chicago
      • Santosh Kumar, PhD, University of Memphis
        • “Mobile Sensor Data-to-Knowledge (MD2K)”
      • Mark Craven, PhD, University of Wisconsin
        • “The Challenge of Computational Phenotyping”
      • Sunduz Keles, PhD, University of Wisconsin
      • Sushimita Roy, PhD, University of Wisconsin
        • “Next generation Regulatory Network Reconstruction”