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rare disease

The companies will use ReadCoor's spatial omics platform to create a cell network map of the mouse brain to inform targeted drug delivery for Wave's medicines.

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.

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A New Zealand minister says the country's genetic modification laws need to be re-examined to help combat climate change, the New Zealand Herald reports.

A new analysis finds some cancers receive more nonprofit dollars than others.

An Australian mother's conviction in the deaths of her children may be re-examined after finding that two of the children carried a cardiac arrhythmia-linked gene variant.

In Science this week: comparative analysis of sex differences in mammal gene expression, and more.