A mutation has been found in a rare form of brain aneurysm that might be treated with a drug already
Category: Genetic disorders
Québec siblings with rare orphan disease lead to discovery of rare genetic diseases
Mutations in a gene involved in brain development have led to the discovery of two new neurodevelopmental diseases by an
DNA puzzle uncovers rare chromosome defects
Using puzzle pieces from four different DNA analyses, researchers at Karolinska Institutet have been able to map three extremely complex
Bad Brakes of the Heart
Hypertrophic cardiomyopathy (HCM) is the most common genetic disease of the heart and a leading cause of sudden cardiac death in young people and athletes.
Researchers map previously unknown disease in children
Professor Bente Vilsen from Aarhus University and her research group have mapped out a newly discovered serious disease which causes
Genetic mutations start after conception
Hundreds of minor genetic mutations start to form in the cells of an embryo after conception, some of these mutations
DNA and RNA editing could heal many diseases
Scientists have discovered two gene editing techniques to fix mutations that cause diseases like cystic fibrosis and Duchenne muscular dystrophy.
Links between protein and heart failure
Study on two specially bred strains of mice showed how abnormal addition of the phosphate to a specific heart muscle
