rare disease

PerkinElmer Genetics will provide clinical whole-genome sequencing, data interpretation, and diagnostic reports to IDG for patients with neurological disorders.

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.

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Using DNA to sketch crime victims might not be a great idea, the NYTimes says.

Science has its own problem with sexual harassment. What do we do with the research these abusers produce, Wired asks.

Senate Republicans led by Senator Rand Paul (R-KY) are trying to change how the government funds basic research, reports ScienceInsider.

In Science this week: combining genomics and ecology to better understand the effects of natural selection on evolution, and more.