Federal funding for biomedical research pays off by enabling basic discoveries that lead to lifesaving treatments, writes ...

Federal funding for biomedical research pays off by enabling basic discoveries that lead to lifesaving treatments, writes ...

PURA, and CTNNB1—in human cell cultures and animal models. We stand on the brink of medical breakthroughs—we are so close.

It’s a human right to go to school,” she said. Obie is eight and has PURA syndrome, a rare genetic disorder that affects the nervous system. He’s non-verbal, communicates with sounds or ...

The U.S. Food and Drug Administration on Wednesday approved Soleno Therapeutics' drug to treat a rare genetic disorder, ...

today shared research on the value of both genetic and functional testing in diagnosing mitochondrial disorders at the 2025 ACMG Annual Clinical Genetics Meeting, in Los Angeles, CA. The session ...

Languages: English. A young European royal has died due to a rare genetic disorder at the age of 22. Prince Frederik of Luxembourg passed away from a rare mitochondrial condition affecting two of ...

an iron overload disorder, or alpha-1-antitrypsin deficiency offer protection against cell stress. Patients with A1AD are born with faults in a gene called SERPINA1. These faults cause changes to ...