Inherited Disease

News on Mendelian diseases, hereditary cancer, variant classification, cystic fibrosis testing and more.

The National Institutes of Health Commercial Accelerator Program helps small healthcare and life science companies bring their products to market.

Rady Children's will provide rapid WGS as a first-line diagnostic test for newborns in the intensive care unit at four participating hospitals in California.

A review of Myriad Genetics' results over 10 years revealed that a significant proportion of variant calls were reclassified at some point.

The lab created active molecular identification tags to be able to track specimens themselves, rather than just their containers. 

To nudge genetic testing labs to share their variant data, MGH now requires that labs to which it sends tests to contribute variants to the ClinVar database.