rare disease

PyxisMap, unveiled at the recent ISMB conference, might soon be able to remove the human element from finding causal variants for rare diseases.

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.

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Sometimes genetic tests give inconclusive results and provide little reassurance to patients, the Associated Press reports.

Vox wonders whether gene-editing crops will be viewed similarly as genetically modified organisms of if people will give them a try.

In Science this week: research regulation and reporting requirement reform, and more.

With H3Africa, Charles Rotimi has been working to bolster the representation of African participants and African researchers in genomics, Newsweek reports.