Bina Bloggers

With N-of-Two, Future Diagnoses Come Easier

Posted by Anoop Grewal on Mar 31, 2016 10:00:00 AM

In the previous post, I shared the riveting case of Bertrand Might, as the first known sufferer from a disease due to mutations in the NGLY1 gene, and how his father’s blog helped a researcher at Baylor, Matthew Bainbridge, realize that NGLY1 mutations were giving rise to his patient’s condition as well [1,2].

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Topics: structural variation, genomics, NGLY1, Mutation Detection, Exomes, phenotypes, Gene Identification, Rare Disease, OMIM

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