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 ...

Researchers have discovered that mice possess a natural form of gene therapy, a non-coding RNA that can sidestep genetic mutations. They were able to engineer a programmable version that recognized ...

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 - ...

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

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 ...

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 ...

Huntington's disease is caused by an inherited genetic change that causes production of an altered protein. This leads to nerve damage in areas of the brain that control movement and thinking.