The federal agency ARPA-H earmarked $43 million for Philadelphia researchers to advance gene therapies for rare diseases.

A Longview toddler bravely recovers in Dallas after a bone marrow transplant to treat IPEX syndrome, a rare disorder causing ...

A five-year-old boy was diagnosed with an incredibly rare genetic condition after his parents noticed he wasn’t “laughing or ...

Studies of genetics conducted in yeast cells, human neurons, mice or other model systems often reveal networks of genes that could contribute to complex diseases, such as breast cancer, type 2 ...

The Advanced Research Projects Agency for Health (ARPA-H) has awarded a new tranche of funds for companies and institutions ...

ADHD is a neurodevelopmental disorder with a high heritability, in which the genetic component consists of thousands of genetic variants. Most variants only slightly increase the likelihood of ...

A five-year-old boy was diagnosed with the ultra-rare genetic condition BPAN after his parents became concerned when he was ...

Niagen Bioscience, Inc. (NASDAQ: NAGE), the global authority on NAD+ science, today announced the formal launch of the first drug candidate of NAD Pharmaceuticals Corp., its wholly owned subsidiary ...

Children with rare genetic disorders often face years of uncertainty before receiving a diagnosis, leaving families without clear information about disease progression, treatment options, prognosis, ...

The teen's mother said he first began showing symptoms at 2 months old when “his arms and legs were just hanging by his side” ...

Jelte, a five-year-old from the Netherlands, died on June 16 ...

Scientists have discovered a rare genetic condition which causes people to age at a much faster rate - and could help develop ...