A teenager who lived in southern Europe around 12,000 years ago has become the earliest person in history to receive a genetic diagnosis. Ancient DNA from her skeleton has revealed a rare form of dwarfism,

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

A "gene silencer" (technically known as small interfering RNA, or siRNA), locally delivered by nanoparticles embedded in an injectable gel produced through 3D printing, can switch off the defective gene responsible for serious rare diseases known as craniosynostoses.

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

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,

Ultra-rare disorders are those affecting fewer than one person in 50,000. Sometimes, indeed, they are unique. And unique problems demand unique solutions. To that end Ms Vitarello created Mila’s Miracle Foundation,

Virginia Tech researchers discovered an indication hidden in the brain that may help doctors identify children suffering from a rare genetic disease earlier. Their findings were published recently in EMBO Molecular Medicine.

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 characterized by gastrointestinal polyposis and ...