rare disease

Canada's Gene42, maker of PhenoTips software, recently forged partnerships with CHOP, Genome Canada, and SeqOne in the fight against rare genetic diseases.

The report advises that although sequencing the genomes of infants can be appropriate in some specific cases, we shouldn’t implement large-scale programs to test healthy babies.

The WGS workflow for diagnosing pediatric genetic diseases uses off-the-shelf products and fits into standard diagnostic laboratory procedures.

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.

Pages

The New York Times and ProPublica look into the close relationship between a startup and Memorial Sloan Kettering Cancer Center.

Yahoo News reports millions of dollars are being transferred from NIH, CDC, and other programs to pay for the housing of detained undocumented immigrant children.

In Science this week: in vitro generation of human reproductive cells, and more.

Researchers gave a handful of octopuses MDMA to find that they too act more social on the drug, Gizmodo reports.