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rare disease

The partners will generate and analyze disease-specific gene expression data to identify likely drug candidates for rare skin diseases.

The firm and the cancer center will work together to use genome information-based precision medicine for cancer research.

Envision offers commercial whole-genome sequencing and analysis services to hospitals and clinical labs interested in using WGS in clinical diagnostics.

Icon will use its data management capabilities and clinical trials expertise to validate clinical data from the 70,000 participating patients and their families.  

An autosomal dominant form of vibratory urticaria has been linked to a missense mutation in the ADGRE2 gene that appears to affect mast cell function and inflammation.

A French drugmaker aims to develop an affordable treatment for Charcot-Marie-Tooth, Stat News reports.

Starting from sequence and SNP data for hundreds of thousands of unselected individuals, researchers estimated penetrance for variants in the prion protein gene.

The firm has created a database of donors and can ship samples to researchers for about half the cost of generating a sample set in house.

Root of the Disease

The 100,000 Genomes Project has diagnosed its first children with rare diseases, the BBC reports.

The service will entail follow-up in vitro modeling and research for individuals with an identified, but ill-understood genetic variant related to a rare disorder.


Researchers tie a variant in ADAMTS3 to breathing difficulties in dissimilar dog breeds, according to Discover's D-brief blog.

The Japan Times reports that researchers sequenced the genome of a woman who lived during the Jomon period.

Parents of children with rare genetic disease have to contend with shifts in the interpretation of genetic variants, the Wall Street Journal reports.

In Science this week: single-nucleus RNA sequencing of brain tissue from individuals with autism, and more.