Norrie disease is an extremely rare, inherited genetic disorder that causes vision loss and was first described in Denmark in ...

A 75-year-old man with a genetic predisposition for Alzheimer’s has yet to show signs of the disease. Could this offer insights on new preventive and therapeutic avenues?

Blood proteins serve as crucial indicators of health and disease risk throughout development. Now, researchers at the ...

It’s a race against a single genetic marker -- and musician turned biotech start-up CEO Casey McPherson says the stakes for ...

Scientists have identified novel genetic interactions that may contribute to congenital heart disease (CHD), a common birth defect.

Researchers from the Mitochondrial Medicine Program at Children's Hospital of Philadelphia (CHOP) have better characterized a spectrum of what were classically considered discrete mitochondrial DNA ...

From life-altering genetic conditions to promising new treatments, here's what you need to know about 7 inherited diseases ...

A toddler was successfully treated for a rare genetic disease, spinal muscular atrophy, after world-first in-womb therapy.

Gene therapy represents a paradigm shift in modern medicine, offering unprecedented opportunities to combat diseases at their ...

Gain-of-function mutations in fibroblast growth factor receptor (FGFR) genes are known to cause a range of skeletal disorders ...

Doctors diagnosed Carmen Lopez with spinal muscle atrophy (SMA) at birth, a rare genetic disorder that affects motor neurons ...

A two-and-a-half-year-old girl shows no signs of a rare genetic disorder, after becoming the first person to be treated for ...