Thursday, October 11, 2018

Drosophila research studies contribute to patient diagnosis for patients with previously undiagnosed diseases

Splinter et al. Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. New England Journal of Medicine. DOI: 10.1056/NEJMoa1714458

This article, which can be accessed free at NEJM, includes a description of how studies in Drosophila and other model systems contribute to identification by the Undiagnosed Diseases Network of disease-causing variants in genome data from previously undiagnosed patients. As stated in the article, "The model organisms screening center was directly involved in the diagnosis of eight patients in this study."

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