Studying Genetic Mutations and Rare Disease - A Conversation with Dr Wendy Chung

Recently, Rare Disease Report sat down with Dr. Wendy Chung, Clinical and Medical Geneticist at Columbia University to talk about her lab's work in genetic testing and the strides that have been made recently in examination of the etiology of various disease -- especially rare diseases -- thanks to the advances made in exome sequencing. As Dr. Chung explains in this video, simply finding a genetic mutation in a rare disease is not enough. Such mutations need to be linked to a in vitro or in vivo study a change in physiologic function.

For more information about Dr. Chung's lab, visit http://www.cumc.columbia.edu/pediatri...

Reference
Cheung YH, Gayden T, Campeau PM, et al. A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis. Am J Hum Genet. 2013 May 22. doi:pii: S0002-9297(13)00213-9.

Ma L, Roman-Campos D, Austin ED, et al. A novel channelopathy in pulmonary arterial hypertension.  N Engl J Med 2013; 369:351-36. DOI: 10.1056/NEJMoa1211097

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