Annual Meeting2022-09-19T22:33:59-04:00
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2022 Indiana CTSI Annual Meeting

The 2022 Indiana Clinical and Translational Sciences Institute (CTSI) Annual Meeting, which will focused on rare diseases. was held Friday, September 16 2022, at Hine Hall on the IUPUI campus – 875 W. North Street. Indianapolis, IN 46202.

Adrian Krainer, PhD is the winner of this year’s August M. Watanabe Prize in Translational Research and will be honored during the annual meeting. Dr. Krainer will also be the keynote speaker for the event.

A video of the entire event is posted at the bottom of this page.

Agenda

 8:00 AM –  9:00 AM Continental breakfast and registration
 8:45 AM –  9:00 AM Virtual attendees login to Zoom via computer or mobile
 9:00 AM –  9:10 AM Welcome & Opening Comments
Indiana CTSI Co-Directors Sharon Moe, MD and Sarah Wiehe, MD, MPH
Introduction Dean Hess: Sharon Moe, MD
 9:10 AM – 10:10 AM Presentation of August M. Watanabe Prize in Translational Research and Keynote Address: From RNA Splicing Mechanisms to a Disease-Modifying Therapy for Spinal Muscular Atrophy 
Watanabe Awardee: Adrian R. Krainer, PhD, Professor, St. Giles Foundation, Cancer Center Deputy, Director of Research, Cold Spring Harbor Laboratory
Introduction: Jay L. Hess, MD, PhD, MHSA, Dean, Indiana University School of Medicine
Moderator for Q & A: Sharon Moe, MD
10:10 AM – 11:30 AM Multi-Faceted Approach to Studying Rare Diseases Across the Indiana CTSI

  • Purdue University: David Umulis, PhD, Dane A. Miller Head and Professor of Biomedical Engineering, Weldon School of Biomedical Engineering, Director, EMBRIO Institute, Professor, Agricultural & Biological Engineering
    • Developing methods to quantify and computationally characterize Bone Morphogenetic Protein (BMP) signaling pathways associated with rare diseases to discover modes of signal activation hierarchy, sensitivity, and variability with the goal of delivering a paradigm to follow genotype through phenotype and inform the understanding of rare diseases.
  • Indiana University School of Medicine: Erin Conboy, MD, Assistant Professor, Departments of Pediatrics , Medical and Molecular Genetics
    • An update on the work of the Undiagnosed Rare Disease Clinic (URDC) that has enrolled 75 patients since 2020 and found a diagnosis for 11 patients, with nine others close to diagnosis, using an individualized approach to upgrade variants of uncertain significance through literature research and new gene discovery.
  • University of Notre Dame: Shaun Lee, PhD, Monahan Family Associate Professor of Rare and Neglected Diseases, Boler-Parseghian Center for Rare and Neglected Diseases
    • Review of a recent study analyzing the heterogeneity of gene mutations using a computational-based scoring algorithm to evaluate the overall clinical severity of gene mutations in specific rare diseases, which may provide a new tool for clinicians in personalized treatments of rare diseases.
  • Indiana University, Bloomington: Fred H. Cate, JD, Vice President for Research, Indiana University, Distinguished Professor and C. Ben Dutton Professor of Law, Senior Fellow, Center for Applied Cybersecurity Research
    • Overview of the recent report on recommendations for an Indiana University research data commons to meet the growing needs of researchers in discovering, sharing and accessing data resources university-wide using a more integrated pathway with a robust infrastructure.
  • Moderator: Sarah Wiehe, MD, MPH
11:30 AM –  1:00 PM Lunch available
12:00 PM –  1:00 PM Indiana CTSI Poster Session and Resource Fair
1:00 PM Afternoon Session Welcome
Indiana CTSI Co-Directors Sharon Moe, MD and Sarah Wiehe, MD, MPH
 1:00 PM –  1:40 AM Rare Diseases and the Translational Research Impact: Research Panel Discussion

  • D. Wade Clapp, MD, Richard L. Schreiner Distinguished Professor of Pediatrics, Chair, Department of Pediatrics, Professor, Microbiology & Immunology, Biochemistry & Molecular Biology, and Medical & Molecular Genetics, Indiana University School of Medicine, Physician in Chief, Riley Hospital for Children
  • Michael J. Econs, MD, FACP, FACE, Distinguished Professor of Medicine and Medical and Molecular Genetics, Glenn W. Irwin, Jr., Professor of Endocrinology and Metabolism, Director, Division of Endocrinology and Metabolism, Indiana University School of Medicine
  • Cynthia D. Brown, MD, Professor of Clinical Medicine, Adult Cystic Fibrosis Director, Department of Medicine, Indiana University School of Medicine

Moderator: Stephanie M. Ware, MD, PhD, Professor, Department of Pediatrics and Medical & Molecular Genetics, Vice Chair for Clinical Affairs, Medical & Molecular Genetics, Program Director, Cardiovascular Genetics

 1:45 PM –  2:25 PM Rare Diseases and the Impact on Patients and Families: Patient Panel Discussion

Moderator: Peter H. Schwartz, MD, PhD Professor of Medicine and Professor of Bioethics, Indiana University School of Medicine; Director, Indiana University Center for Bioethics

 2:30 PM –  3:15 PM Afternoon Plenary Address: Impact of Collaborative Translational Research and Funding Opportunities; Getting Beyond “One Disease at a Time”
Philip J. Brooks, PhD,  Acting Director, Division of Rare Diseases Research Innovation, National Center for Advancing Translational Sciences, National Institutes of Health
Introduction: Sarah Wiehe, MD, MPH
Moderator for Q & A: Sarah Wiehe, MD, MPH
 3:15 PM –  3:30 PM Indiana CTSI Poster Winner Recognition and Closing Remarks
Indiana CTSI Co-Directors Sharon Moe, MD and Sarah Wiehe, MD, MPH
 3:30 PM Adjourn

2022 Indiana CTSI Annual Meeting Video

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