An infant with a fatal genetic disease has survived past the age of 2 with no signs of the condition, thanks to treatment started in the womb.

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

Use precise geolocation data and actively scan device characteristics for identification. This is done to store and access ...

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

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

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 ...

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

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

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 ...

As key members of the Johns Hopkins Department of Genetic Medicine, genetic counselors help patients with rare diseases ...

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 ...