A genetic mutation that helps animals like yaks and Tibetan antelopes survive at high altitudes may hold the key to repairing nerve damage in conditions such as cerebral paralysis and multiple ...

A genetic mutation tied to keeping the brain healthy at high altitudes may point to a way to repair nerve damage, experiments in mice show.

A doctor who had a genetic condition that prevents teeth from forming searched for the DNA mutation that had affected his family for over 150 years.

The discovery could open up new ways for treating diseases such as MS by leveraging molecules that are already present in the human body.

Researchers have pinpointed a gene mutation associated with survival at high altitudes that could restore myelin to damaged ...

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 ...

Myelin is a lipid sheath that insulates nerve fibers carrying signals throughout the brain and body. When this sheath becomes damaged, the passage of these crucial signals is disrupted, leading to ...

Medically reviewed by Jeffrey S. Lander, MD Key Takeaways There is a hereditary form of transthyretin amyloid cardiomyopathy (ATTR-CM) caused when a mutated gene is passed from parent to child.Having ...

Genome editing-based therapies typically aim to treat disease by correcting underlying genetic mutations in patient's cells.

Indiana University School of Medicine scientists have uncovered new evidence that an age-related blood condition may ...

You’ve likely heard people mention that they have inherited certain health conditions from their family. These are known as genetic disorders—conditions passed down from parents through DNA. In this ...

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, ...