genetic disorders
RNA Editing Startup Amber Bio Raises $26M in Seed Funding
The San Francisco-based company aims to use its technology to develop treatments for genetic diseases with high allelic diversity.
NIH Funds $140M Program to Catalog Somatic Mosaicism in Humans
Supported by the institute's Common Fund, the program aims to accelerate research on human development, aging, and disease.
Sema4's GeneDx to Provide Genome Sequencing, Interpretation for Large-Scale Newborn Screening Study
The GUARDIAN (Genomic Uniform-screening Against Rare Diseases in All Newborns) study plans to screen 100,000 newborns for up to 250 rare genetic conditions.
UK Biobank Study Investigates Incomplete Penetrance of Mendelian Disease Variants
The study, presented at the virtual ASHG annual meeting this week, analyzed phenotypes in carriers of different recessive Mendelian diseases.
Sick Infants Profiled With WGS See Better Diagnosis, More Care Changes
The results shore up prior studies and add to the growing evidence for the benefits of rapid whole-genome sequencing in critically ill newborns.