Etta Cartmill will receive a kidney transplant after already spending five weeks in the hospital following a liver transplant ...

Newborn babies in Hull will be able to be screened for more than 200 rare genetic conditions as part of a national study to ...

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

Pam Kowalcyzk and her daughter have PKU, a rare disorder that prevents the body from processing protein ...

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 ...

The U.S. Food and Drug Administration (FDA) announced Rare Disease Evidence Principles (RDEP) to allow for faster approval of treatments for ultra-rare genetic diseases. A product is eligible if it ...

SEATTLE — Artificial intelligence is helping tackle the overwhelming task of treating what's known as "ultra-rare" genetic conditions, many of which lack a cure. Two-year-old Jorie Kraus has such a ...

NASHVILLE — Country singer Ashley Cooke says a rare genetic heart condition has added to an already difficult year marked by ...

Shaye Tillett of Elkridge, born with Turner syndrome, now needs an O negative kidney donor as polycystic kidney disease ...

The family credits prayer for Jacob's miraculous recovery along with the caring medical team of talented doctors and nurses ...

From horns to conjoined heads and super-flexible skin, these rare genetic conditions challenge belief.