Inherited Disease

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

The companies will offer free testing to  more rapidly identify individuals with certain mutations, supporting Inozyme's efforts to develop and test new treatments.

Rainbow will offer Color's hereditary cancer and heart health genetic risk assessment tests to patients in Hong Kong.

Researchers from the molecular diagnostics firm said their screen could identify a range of variant types to boost the identification of at-risk couples.

Seventy-eight percent of participants had at least one positive carrier screening result and 3.5 percent had a medically actionable secondary finding.

The Australian Genomics Health Futures Mission will include a series of studies to tackle rare diseases and cancers.

A federal grand jury has indicted Elizabeth Holmes and Ramesh Balwani for alleged wire fraud in conjunction with their activities at Theranos.

Nature News reports that some developers are nervous about GitHub's acquisition by Microsoft.

A direct-to-consumer genetic testing company sent out used spit kits, CNBC reports.

In PLOS this week: comparison of commercial bisulfite kits, new method to predict essential proteins, and more

Jul
11
Sponsored by
Genomenon

This webinar will discuss an approach for automating variant classification based on the American College of Medical Genetics and Genomics guidelines.