rare disease

This embargo-free strategy represents "an entirely new way of doing research" into rare pediatric cancers, where time is of the essence.

This Week in Nature

In Nature this week: large Alzheimer's disease GWAS uncovers novel loci, new CRISPR interference-based approach, and more.

The New York Times highlights the Undiagnosed Disease Network.

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.

Pages

An artificial intelligence-based analysis suggests a third group of ancient hominins likely interbred with human ancestors, according to Popular Mechanics.

In Science this week: reduction in bee phylogenetic diversity, and more.

The New York Times Magazine looks into paleogenomics and how it is revising what's know about human history, but also possibly ignoring lessons learned by archaeologists.

The Economist reports on Synthorx's efforts to use expanded DNA bases they generated to develop a new cancer drug.