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The Ó³»­´«Ã½bent family worked closely with scientists to discover the unique genetic cause of their daughter’s disease, highlighting the need to examine noncoding parts of the genome when diagnosing rare genetic disorders.

The approach targets the most common genetic cause of the disease and could enable a one-time treatment as effective as existing daily therapies.

By adapting virus-like particles to carry the machinery for a type of gene editing called prime editing, scientists have corrected disease-causing mutations in animals and increased editing efficiency.

Strategy infers whether variants that appear in the same gene are on the same copy of that gene, could improve genetic diagnosis of disease

Katherine Chao talks about her work managing the Genome Aggregation Database (gnomAD) and the importance of diverse datasets in rare disease diagnosis.

New study suggests that treatments that mimic the effects of a low-oxygen environment could one day help reverse Friedreich’s ataxia.

A one-time genome-editing treatment restores motor function and extends lifespan in an animal model of a neuromuscular disease that is the leading genetic cause of infant mortality.

A study of a rare bone marrow disorder reveals that even healthy stem cells are vulnerable to iron-induced cell death.