Hundreds of people came to Indianapolis to participate in the 2022 Indiana Clinical and Translational Sciences Institute (CTSI) Annual Meeting, which was held in-person for the first time since the COVID-19 pandemic started. About a hundred more people also participated in the meeting via Zoom. The theme of this year’s annual meeting was, “Rare diseases are not so rare: The collective impact of translational research and the integral roles of patients and their families.
The agenda included a keynote talk from Watanabe Award winner Adrian Krainer, PhD, from Cold Spring Harbor Laboratory, as well as rare disease research study updates from all four campuses across the Indiana CTSI, panel discussions on the influence of innovative research and how it is impacting patient lives, and nearly 50 poster presentations featuring a multitude of groundbreaking studies around today’s most complex diseases and advanced personalized medicine therapies. There was also an afternoon plenary address from Philip Brooks, PhD, from the NCATS Division of Rare Diseases Research.
The winners of the 2022 Indiana CTSI Annual Meeting poster session include:
- Nicholas Harrison, MD, MSc, Indiana University School of Medicine, KL2 Scholar, Central Apnea with Severe Oxygen Desaturations is Common But Underrecognized During Hospitalization for Heart Failure
- Katelyn Hettinger, PharmD, Purdue University, TL1 Post-Doctoral, A developmental, formative evaluation to inform implementation of bidirectional health information exchange in community pharmacies
- Emma Vanderlaan, BS, Purdue University, TL1 Pre-Doctoral, Computational Modeling for Design of Next Generation Microphysiological Systems for Evaluation of β-Cell Health and Function
- Jacob Watson, Indiana University School of Medicine, Indiana CTSI Affiliated Investigator, Osteosarcoma Patient Decision Aid for Surgery in the Lower Limb: Alpha Test Results with Stakeholders
- Jonah Wirt, BS, Indiana University Bloomington, Indiana CTSI Affiliated Investigator, Peripherally Restricted Inhibitor of Monoacylglycerol Lipase LEI-515 Suppresses Chemotherapy-Induced Peripheral Neuropathy in a Mouse Model Through a CB2-Mediated Mechanism of Action
- Soojung Jo, PhD RN, Purdue University, Indiana CTSI Affiliated Investigator, Examining the Factors Associated with Handwashing Behaviors in Korea: An Analysis of the Community Health Survey
Next year’s annual meeting will be on Friday, September 22, 2023.
View full video below or navigate to specific talks at the timecodes below:
0:00:00 – Welcome & Opening Comments, Indiana CTSI Co-Directors Sharon Moe, MD and Sarah Wiehe, MD, MPH
0:05:51 – Presentation of August M. Watanabe Prize in Translational Research, Jay L. Hess, MD, PhD, MHSA, Dean, Indiana University School of Medicine
0:13:27 – Keynote Address and Live Q&A: 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
1:20:08 – David Umulis, PhD, Purdue University, 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.
1:36:33 – Erin Conboy, MD, Indiana University School of Medicine, 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.
1:54:04 – Shaun Lee, PhD, University of Notre Dame, 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.
2:12:03 – Fred H. Cate, JD, Indiana University, Bloomington, 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.
2:29:25 – Afternoon Session Welcome, Indiana CTSI Co-Directors Sharon Moe, MD and Sarah Wiehe, MD, MPH
2:32:20 – Rare Diseases and the Translational Research Impact: Research Panel Discussion
- 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
3:16:00 – 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
3:55:01 – Afternoon Plenary Address, Philip J. Brooks, PhD, Acting Director, Division of Rare Diseases Research Innovation, National Center for Advancing Translational Sciences, National Institutes of Health, Impact of Collaborative Translational Research and Funding Opportunities; Getting Beyond “One Disease at a Time”
4:41:39 – Indiana CTSI Poster Winner Recognition and Closing Remarks, Indiana CTSI Co-Directors Sharon Moe, MD and Sarah Wiehe, MD, MPH