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rare disease

Qrativ, a joint venture of Mayo Clinic and Nference, seeks new treatments for rare diseases by coupling Mayo research with publicly available genomic data sets.

Polygamy amplified a rare genetic disease in area near Arizona-Utah border, BBC Future reports.

Exome or targeted sequencing on members of families affected by Carey-Fineman-Ziter syndrome led to mutations in the MYMK gene that impact muscle cell fusion.

An exome sequencing analysis of individuals from eight families led to homozygous loss-of-function mutations in CD55 and ties to complement system activity.

Centogene said it will use the funds to accelerate growth and expansion in the areas of genetic testing, pharmaceutical collaborations, and big-data solutions.

Sanford Health is teaming up with Genome.One to incorporate patient-generated data into WGS outputs to help elucidate the genetic basis of rare diseases.

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.

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The former commissioner of the FDA has returned to the venture capital firm New Enterprise Associates as a special partner on the healthcare investment team.

Astronauts have edited yeast genes on the International Space Station in an experiment designed to show how cells repair themselves in space.

Emory University has found that two of its researchers failed to divulge they had received funds from China, according to the Atlanta Journal-Constitution.

In Science this week: influence of the nuclear genome on human mitochondrial DNA, and more.