AMD is one of the rarest documented genetic disorders. Only around 10 million people in the world carry the altered NPR2 gene ...

When two defective gene variants combine, normal protein function can sometimes be restored.

A double burial found in southern Italy more than 60 years ago has just yielded a striking new secret: ancient DNA has confirmed a rare inherited form of dwarfism in a teenage girl who lived around 12 ...

Virginia Tech researchers discovered an indication hidden in the brain that may help doctors identify children suffering from ...

The crisis facing rare disease and disability families in Connecticut is caused by systemic underinvestment, administrative barriers, and policy choices.

A "gene silencer" (technically known as small interfering RNA, or siRNA), locally delivered by nanoparticles embedded in an ...

Ultra-rare disorders are those affecting fewer than one person in 50,000. Sometimes, indeed, they are unique. And unique ...

In a major leap for genetic diagnostics, scientists from the University of Melbourne and the Murdoch Children's Research Institute (MCRI) have developed a groundbreaking rapid blood test that can ...

Noonan Syndrome, identified by Dr. Jacqueline A. Noonan, involves congenital heart defects and is linked to PTPN11 gene mutations. Cronkhite-Canada Syndrome, discovered by Dr. Wilma Jeanne Canada, is ...

Johns Hopkins Medicine laboratory scientists say they have developed a potential new way to treat a variety of rare genetic diseases marked by too low levels of specific cellular proteins. To boost ...

Chennai hospital successfully performs liver transplant on two-year-old with primary hyperoxaluria, improving his kidney ...