Researchers at Monash University in Melbourne, Australia, have uncovered the hidden code governing how genetic mutations affect RNA splicing and result in disease. The researchers were able to ...

Mutations are changes in the molecular 'letters' that make up the DNA code, the blueprint for all living cells. Some of these changes can have little effect, but others can lead to diseases, including ...

Orphan Drug Designation applies to approximately 50,000 Patients who predominantly suffer from severe chronic pain due ...

Fourteen million people worldwide suffer from enlarged hearts, or hypertrophic cardiomyopathy (HCM), a genetic disease that thickens the heart's walls, making it harder for the organ to pump blood - ...

A Mayo Clinic-led team of researchers is solving one of the most frustrating aspects of genetic cancer screening — results that give zero guidance to patients on whether they are at elevated risk.

Ever see a basset hound and find yourself wanting to (gently) grab its long, floppy ears and give them a little waggle? The ...

Medically reviewed by Brigid Dwyer, MD Key Takeaways Huntington’s disease is a genetic condition that is inherited in an autosomal dominant pattern.The genetic change that causes Huntington’s disease ...

New research finds that retinal diseases thought to map one-to-one to genetic mutations are more complicated than that.

Researchers from the Neuromuscular Diseases Group and the Dementia Neurobiology Group of the Sant Pau Research Institute (IR Sant Pau) and the Memory Unit of the Sant Pau Hospital, led by neurologist ...