Norrie Disease is an ultra-rare genetic disorder causing congenital blindness, progressive hearing loss and neurological challenges. One Indian mother's journey reveals how misunderstood the condition ...

Study results show a new technique that analyzes genomic information from a type of skin cancer tumor could help melanoma ...

From rare diseases to chronic conditions, epigenetic editing unlocks new ways to control gene activity without altering the genetic code.

A Danish sperm donor unknowingly carried a rare TP53 gene mutation, leading to nearly 200 children conceived across 14 ...

Chicago's Lurie's Children's Hospital will expand care for patients living with rare genetic diseases and conditions thanks ...

Because only part of the man's sperm carried the mutation, only the second round of genetic testing revealed the problem. By ...

A dad found out he has been living with a rare incurable disease for 35 years when he put his son through genetic testing — after dismissing his aches and pains for aging. Robin Schultz, 35, and his ...

Loss of muscle mass, also called muscle wasting or atrophy, can happen gradually as part of getting older or more suddenly ...

The three-hit model, developed from more than a decade of systems biology research, proposes that autism develops when three ...

Breast cancer comes with many variables. A pair of powerful genomic tests can help women and their care teams make ...

A test using genetics to predict who is at the highest risk of developing type 1 diabetes could one day be applied to ...

A test using genetics to predict who is at the highest risk of developing type 1 diabetes could one day be applied to ...