Discovering the Genetic Basis of Rare Diseases

Описание к видео Discovering the Genetic Basis of Rare Diseases

Michael Dellinger, Ph.D.

Assistant Professor
Department of Surgery
UT Southwestern Medical Center

Director of Research
The Lymphatic Malformation Institute

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.

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