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rare disease

PerkinElmer will offer providers and patients screening for ASAH1 mutations through its PerkinElmer Genomics laboratory unit.

Just From Dad

Buzzfeed News reports on the case of a young girl who inherited most of her genes from just her father.

Genome and RNA sequencing led to recurrent EGFR and BRAF rearrangements in cryptogenic congenital mesoblastic nephroma and infantile fibrosarcoma soft tumors.

With panel sequencing data for more than 143,000 individuals, researchers characterized intragenic copy number variants in hundreds of monogenic disease genes.

The initiative will promote the clinical implementation of precision medicine with an initial focus on rare diseases.

With all of its 600 nurses trained in genomics competency, the research hospital at NIH wants patient genetic pedigrees available directly in the EMR.

In an against-all-odds twist, a researcher studying exceeding rare FOXG1 mutations discovers her daughter has the syndrome.

At the ACMG meeting, a Johns Hopkins researcher described how she used the social media platform to contact and survey more than 150 patients with two rare diseases.

"Repurposing starts with the human genome," a precision medicine expert said in explaining Vanderbilt's new approach to accelerating clinical trials.

Emilia Pinto and her colleagues are parsing the genetic landscape of adrenocortical tumors and collecting data in a registry.

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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.