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rare disease

An opinion piece at Wired says that pre-implantation genetic diagnosis and in vitro fertilization could prevent many rare genetic diseases.

Diploid hopes to lighten the workload of clinical geneticists drowning in next-generation sequencing data.

Incorporating splicing and other clues from muscle transcripts, researchers reached diagnoses in cases that were inconclusive after sequencing alone.

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.

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The University of California, Berkeley's Jennifer Doudna reflects at Science on the anniversary of the announcement of the birth of twin girls who underwent genome editing.

By studying its enamel proteome, researchers have found the ancient ape Gigantopithecus blacki belongs to a sister clade to that of orangutans.

Bloomberg Businessweek discusses genomics with BGI's Wang Jian.

In Science this week: researchers find transplanting the gut microbiome in mice affects physiology, and more.