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The effort will engage with patients, empowering them to share their unique health data with scientists to accelerate research.

A single-letter edit in DNA reduces levels of the disease-causing prion protein in the brain and could lead to a preventative, one-time treatment for the deadly neurodegenerative disorder.

Heidi Rehm convinced labs and scientists to work together and share data. This has helped many people with rare disease find answers.

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