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rare disease

The collaborators are each providing funding and samples, and plan to study about 100 patients with a subset of Castleman disease to identify biomarkers.

Undiagnosed Disease Network researchers used exome sequencing to diagnose more than one-quarter of individuals previously denied clinical exome reimbursement.

The Family Variant

The Columbus Dispatch tells the story of two sisters who've inherited a rare genetic illness.

Researchers describe a rare genetic disorder that leads to deafness, blindness, and albinism, that's more likely among children of deaf parents, the Washington Post reports.

Rare Answers

Sequencing is enabling the roots of some rare diseases to be determined, the Financial Times reports.

Congenica will use the proceeds to establish its presence in the US and China, where it will court not only clinical genetics labs, but specialists, academics, biotech, and pharma.

The company will use the proceeds from the round to invest in sales and marketing efforts for its Sapientia clinical genome analysis platform, as well as for R&D.

The company, a spinoff from genomics service provider Macrogen, plans to offer patients an exome test that screens for more than 4,000 rare diseases.

Marshall Summar

The new institute plans to use structured clinical information to inform targeted testing in order to cut down the time to diagnosis.

The results begin to adress questions about whether the company's meticulous, but costly research services can actually impact patient outcomes.

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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.