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 Item
Suicide by Firearm in the United States: A Collaborative Path for Prevention , homeMarch 6, 2025, 5:30 p.m. (Reception at 5 p.m.) | Marian Betz, M.D., M.P.H. Professor, Departments of Epidemiology and Emergency Medicine, Deputy Director, Injury & Violence Prevention Center, University of Colorado School of Public Health; Member, National Academy of Medicine | Maury Strauss Distinguished Public Lecture
-
Home Item
Thinking the Right Thoughts , homeNathaniel Daw, Ph.D., Professor, Computational and Theoretical Neuroscience, Department of Psychology, Princeton University | Co-Sponsored by the Fralin Biomedical Research Institute Center for Human Neuroscience Research
-
Home Item
The Emergence of Network Activity Patterns - An Early Window to Autism Spectrum Disorder , homeMarch 14, 2025, 11:00 a.m. | Natalia De Marco Garcia, Ph.D., Associate Professor, Department of Neuroscience, The Brain and Mind Research Institute, Weill Cornell Medical College | Co-Sponsored by the Center for Neurobiology Research, Fralin Biomedical Research Institute
-
Home Item
Integration of Sensory, Metabolic and Neural Signals in the Determination of Food Choices and How Dysregulation of These Systems Contributes to Obesity, Diabetes and Cognitive Impairment , homeMarch 21, 2025, 11:00 a.m. | Dana M. Small, Ph.D., Professor, Department of Psychiatry and Psychology, Director, Modern Diet and Physiology Research Center, Yale School of Medicine | Co-Sponsored by the Center for Health Behaviors Research and the Addiction Recovery Research Center, Fralin Biomedical Research Institute
-
Home Item
Social Learning in Borderline Personality Disorder , homeApril 4, 2025, 11:00 a.m. | Sarah Fineberg, M.D., Ph.D., Assistant Professor, Department of Psychiatry, Yale School of Medicine | Co-Sponsored by the Fralin Biomedical Research Institute Center for Human Neuroscience Research
-
Home Item
Bringing Precision Medicine to Psychiatry , homeApril 10, 2025, 5:30 p.m. (Reception at 5 p.m.) | Jordan Smoller, M.D., Sc.D., MGH Trustees Endowed Chair in Psychiatric Neuroscience; Professor of Psychiatry, Harvard Medical School; Professor of Epidemiology, T.H. Chan Harvard School of Public Health; Director, Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital | Maury Strauss Distinguished Public Lecture