Affecting an estimated one in 12,000 baby girls born each year (and only rarely seen in boys), this genetic disorder causes ...

Bridget Finn’s daughter, Flo, was born with a rare genetic mutation, STXBP1 — but the family has put their "grief" into action with a powerful fundraising effort.

The research focused on a variant called APOE4 and largely looked at people of European ancestry—risk levels are different ...

Tourette disorder is a disorder of the nervous system that affects children, adolescents and adults. The condition is ...

First linked to mutations in the CHD7 gene in 2004, CHARGE syndrome is a rare genetic disorder occurring in approximately 1 in 8,500 to 15,000 births. According to the National Institute of Health ...

An insurance company has denied newborn twins a one-time genetic treatment that could stop the progression of their spinal ...

A therapy that restores brain cells impaired by a rare genetic disorder may offer a strategy for treating conditions like ...

OTC deficiency is the most common urea cycle disorder and is caused by a genetic defect in a liver enzyme responsible for the detoxification of ammonia. The Fast Track designation is designed to begin ...

The researchers chose to examine genetic differences between individuals who would not be expected to show such differences – pairs of identical twins, who should share the same DNA sequence, where ...

A recent study led by UC Davis Health researchers provides new insights into the molecular changes linked to the rare genetic condition 22q11.2 deletion syndrome, or 22q. It found unique biomarkers ...

Researchers have conclusively identified the genetic cause of a rare, progressive movement disorder. A rare extra-long ...

Chandigarh doctors help thalassemia couple deliver baby without the genetic disorder using breakthrough procedure ...