With genealogical data for 3.4 million individuals from Quebec, investigators traced a rare heart and digestive disease back to two 17th century founder families.
NPR says a new US Government Accountability Office report criticizes the Food and Drug Administration's orphan drug program.
The new entity will offer comprehensive genomic services for precision medicine and drug discovery for central nervous system diseases.
Through the Alnylam Act program, patients suspected of having the rare disease or with a family history of the illness will receive testing at no cost.
British genomics interpretation software vendor Congenica will help researchers analyze WGS and WES in search of a genetic cause for sudden unexpected death in epilepsy.
The UK-based maker of clinical genomics interpretation software is moving into the US and China after carefully researching the differences from European markets.
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.
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.