EM1905E "The Genetic Basis of Heritable Disease" (IM GR-051019)
This lecture will discuss the landscape of Mendelian genetic disorders affecting the adult patient population. It will explore the changing management of patients with inborn errors of metabolism, the altered natural history of these diseases, and the focus on new therapeutics for rare disease.
UT Southwestern faculty, fellows, residents and medical students, community physicians, nurse clinicians, physician assistants and nurses.
At the conclusion of this activity, the participant should be able to:
- Understand the frequency and impact of genetic disease in adults
- Identify the management needs of adults with inborn errors of metabolism
- Recognize the importance of new therapeutics to the treatment of rare disease
Markey McNutt, M.D., Ph.D.
Assistant Professor, Department of Internal Medicine
Eugene McDermott Center for Human Growth and Development
Donald W. Seldin Research Symposium Guest Lecturer
Dr. McNutt joined the UT Southwestern Medical Scientist Training Program in 2003 and received his MD and PhD degrees in 2010. He performed his PhD research in the laboratory of Dr. Jay Horton studying the role of PCSK9 in the molecular mechanisms that control cholesterol levels in humans. After graduating, Dr. McNutt continued his clinical training completing a residency in internal medicine and fellowship in endocrinology, diabetes, and metabolism as part of the Physician Scientist Training Program. In fellowship, he worked in the laboratory of Dr. Helen Hobbs and Dr. Jonathan Cohen trying to better understand the metabolism of fatty acids in fasting and refeeding. During this time, Dr. McNutt became passionate about rare genetic metabolic disease and returned to training to complete a residency in clinical genetics at UTSW before joining the faculty as an assistant professor of genetics and metabolism in the McDermott Center for Human Growth and Development, Department of Internal Medicine, and Department of Pediatrics.
- 1.00 AMA