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

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

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

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

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

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 ...

Melinda Collier told Newsweek that "you can't and shouldn't chalk up someone, let alone a child, as a lost cause." ...

Is Obesity Genetic or Environmental? Get All the Details This article was reviewed by Lynn Marie Morski, MD, JD. Key ...

The genetic modification therapy market presents key opportunities in developing specialized treatments for rare, inherited, and debilitating conditions. Emerging applications extend to oncology, ...