Among the forms of monogenic macular degeneration, the most common is Stargardt disease. This disease is caused by mutations in the ATP-binding cassette transporter alpha 4 subunit (ABCA4) gene, ...

The human genetic code is fully mapped out, providing scientists with a blueprint of the DNA to identify genomic regions and their variations responsible for diseases. Traditional statistical tools ...

A case in point is a mutation discovered in humans in 2012 that reduces the risk of developing Alzheimer's disease. Named the Icelandic mutation, it is particularly prevalent among Icelanders and was ...

Scientists already suspect that somatic mutations—those that accrue in cells outside the germline over a person’s lifetime, seemingly at random—play a role in neurodegenerative diseases. Now, several ...

Scientists have corrected gene mutations in mice causing an ultra-rare disease by editing DNA directly in the brain with a single injection, a feat with profound implications for patients with ...

Mayo Clinic researchers have identified a rare mutation in the MET gene that can directly cause metabolic dysfunction-associated steatotic liver disease. The mutation disrupts the liver’s ability to ...