• 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

• 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

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