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rare disease

Gizmodo reports that researchers have linked a genetic variant to the screw-like tail of bulldogs and some terriers.

The launch of the sequencing platforms is a milestone for the Plan France Médecine Génomique 2025, a €670 million initiative the French government announced two years ago.

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.

Not Always Complete

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.

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In PLOS this week: Mycobacterium abscessus linked to gastric conditions, placental gene expression changes associated with preterm birth, and more.

The Guardian reports that UK universities are looking into ways to reduce labs' reliance on single-use plastics.

People with certain gene variants tend to not like vegetables, particularly bitter ones, CNN reports.

MIT's Technology Review reports on a company's genetic test that gauges an embryo's susceptibility to certain diseases.