Rare Disease as an Emerging and Distinct Field of Medicine
Marshall Summar, M.D.
Chief, Division of Genetics and Metabolism
Director, Rare Disease Institute
Magaret O'Malley Chair, Genetic Medicine
Children's National Hospital
Rare Disease as an Emerging and Distinct Field of Medicine
Date: Aug. 30, 2022
Time: 1 - 2 p.m.
About this Seminar
With the completion of the human genome sequence and the advent of affordable molecular sequencing, the field of genetic rare diseases has exploded. With over 8000 conditions described (and counting), the classic expectation of a physicians encyclopedic knowledge of their field is unrealistic. The pace of therapeutic development for rare disease is also explosive with 52% of new drugs approved by the FDA for rare diseases. This lecture will describe this oncoming wave and discuss new models that can be used to care for patients.
You May Also Be Interested In...
-
Home ItemIn Person at CNRIC: Hyperactivation of an RNA Binding Protein by Cancer-associated Mutations , home
April 19, 11:00 a.m., Collaboratory, Children's National Research and Innovation Campus, Washington, D.C. | Daniel Dominguez, Ph.D., Assistant Professor, Pharmacology, UNC School of Medicine | Co-Sponsored by the Fralin Biomedical Research Institute Cancer Research Center (DC)
-
Home ItemIn Person Seminar: Our Mass Spectrometry Screening Studies in the Mouse and Human Hearts in Health and Disease , home
April 26, 2024, 11 a.m. | Anthony Gramolini, Ph.D., Professor, Physiology and Translational Biology and Engineering, Ted Rogers Centre for Heart Research, University of Toronto | Co-Sponsored by the Fralin Biomedical Research Institute Center for Vascular and Heart Research
-
Home ItemIn Person Seminar: Regulation of Mitochondrial Parameters in Skeletal Muscle , home
May 3, 2024, 11:00 a.m. | Glenn Rowe, Ph.D., Associate Professor of Medicine, Division of Cardiovascular Disease, University of Alabama at Birmingham | Co-Sponsored by the Fralin Biomedical Research Institute Center for Exercise Medicine Research
-
Home ItemPlanning the Future of Environmental Health Sciences , home
May 9, 2024, 5:30 p.m. (Reception at 5 p.m.) | Rick Woychik, Ph.D., Director, National Institute of Environmental Health Sciences, National Institutes of Health | Maury Strauss Distinguished Public Lecture
-
Home ItemIn Person Seminar: Flavors in Tobacco and Nicotine Products: Science-based Regulation , home
May 10, 2024, 11:00 a.m. | Suchitra Krishnan-Sarin, Ph.D., Albert E. Kent Professor of Psychiatry, Yale School of Medicine | Co-Sponsored by the Fralin Biomedical Research Institute Center for Health Behaviors Research and the Addiction Recovery Research Center
-
Home ItemCANCELLED: In Person Seminar: Sex Influences on Brain and Body: An Issue That is Here to Stay , home
May 17, 2024, 11:00 a.m. | Larry Cahill, Ph.D., Professor, Neurobiology and Behavior, University of California, Irvine | Co-Sponsored by the Fralin Biomedical Research Institute Center for Human Neuroscience Research