Discovering the Genetic Basis of Rare Diseases

Presented by Michael Dellinger, PhD, University of Texas Southwestern Medical Center

DNA carries all of the instructions for the development of an organism. DNA is a long polymer made up of the building blocks, G, A, T, and C. Genetic mutations are changes to the sequence of DNA. Some genetic mutations are germline mutations (heritable), whereas other mutations are somatic mutations (non-heritable). Germline mutations cause inherited diseases that are passed from one generation to the next. In contrast, somatic mutations cause sporadic diseases that are not inherited. Recently, several vascular anomalies have been found to be caused by somatic mutations. This has led researchers to hypothesize that GLA, KLA, and GSD are also caused by somatic mutations. In my presentation, I will discuss how patient samples have been used to try to identify the genetic mutations that cause GLA, KLA, and GSD.

About the Presenter

Dr. Dellinger is an Assistant Professor in the Department of Surgery at UT Southwestern Medical Center and his lab studies Gorham-Stout disease, generalized lymphatic anomaly, and kaposiform lymphangiomatosis. Dr. Dellinger serves as the Director of Research for the Lymphatic Malformation Institute (LMI) where he provides scientific leadership to the program. He is responsible for identifying research avenues relevant for investigation and ensuring that projects meet a high level of scientific standard.

In 2018 Dr. Dellinger became the first recipient of the LGDA Science Award.
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