Catherine O'Hara, who died Jan. 30, previously opened up about a rare congenital condition called dextrocardia with situs ...
Researchers identified the earliest case of a genetic disease with the help of DNA: ...
“I’m a freak,” the late actress teased ...
A mitochondrial DNA mutation passed down through the maternal line in some Venezuelan families has been linked to severe ...
Researchers led by the University of Vienna and Liège University Hospital Center have identified genetic variants associated ...
The legendary actress previously opened up about her rare diagnosis, however, there is no evidence it contributed to her ...
Huntington’s disease is a rare inherited neurological disorder that progressively affects movement, cognition and mental ...
Alström syndrome affects roughly one in 500,000 people. In May, Fort Worth will host a symposium of researchers looking into treatments.
Dr. Rebecca Ahrens-Nicklas and Dr. Kiran Musunru crafted a bespoke treatment that has successfully corrected the genetic ...
AMD is one of the rarest documented genetic disorders. Only around 10 million people in the world carry the altered NPR2 gene, and of those, just 3,500 are estimated to display the physiological ...
A rare form of diabetes affecting newborn babies and caused by a genetic disorder has been discovered by scientists in the UK and Belgium.
Meet the luckiest people on Earth — individuals carrying a rare genetic mutation that prevents wrinkles from forming even as they age well into their 80s. These genetic lottery winners have provided ...