Inherited Disease

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

A randomized clinical trial from France revealed similar miscarriage rates in women who had cell-free DNA screening for trisomy 21 prior to invasive testing.

The startup's first test focuses on diagnosing 60 conditions for which treatment is available.

A panel led by the FH Foundation recommends routine genetic testing for those with very high LDL cholesterol and a family history of high cholesterol or early heart attack.

The Garvan team has shown that whole-genome sequencing can diagnose more cases than targeted panels and is now demonstrating its cost-effectiveness.

As part of the collaboration, B. Braun China founded a subsidiary, called B. Braun Precision Medicine Technology (BBPM), that opened in Shanghai in May.

In Science this week: International Wheat Genome Sequencing Consortium publishes the bread wheat cultivar Chinese Spring reference genome, and more.

At his FDA Law Blog, Jeffrey Gibbs discusses FDA's technical assistance for the draft Diagnostic Accuracy and Innovation Act.

The New York Times reports that genetic testing has uncovered unfaithful penguins at a Utah aquarium.

Cancer researcher loses funding under new Wellcome Trust anti-bullying policies, the Guardian reports.

Sep
20
Sponsored by
St. Jude Children's Research Hospital

This webinar will provide an overview of how St. Jude Cloud, a public repository of pediatric cancer genomics data and analysis tools, is impacting cancer research.