Yentli Soto Albrecht has a rare genetic form of ALS and is working on research at Penn that could one day prove life-saving.

The FDA proposes new rules allowing mutation-specific gene therapies to qualify for approval despite extremely small patient ...

A Carlsbad family is sharing their son’s story after the 5-year-old was diagnosed with a rare genetic disorder and began a ...

Mayo Clinic researchers have identified a rare mutation in the MET gene that can directly cause metabolic dysfunction-associated steatotic liver disease. The mutation disrupts the liver’s ability to ...

Hunter Syndrome is a rare genetic condition that can cause damage to the body and the brain. It often causes children to pass away in their teens, but a UNC Health ...

Exclusive: One in four wait at least three years for diagnosis and many face treatment ‘access lottery’, according to report ...

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 ...

St. Louis Families Unite for Rare Disease Day 2026 as Take Part Foundation Advances Critical Genetic Testing and ...

Every new discovery in genetics brings scientists one step closer to understanding complex conditions and improving the lives ...

For too long, the promise of personalized therapies has been tantalizingly close, yet frustratingly out of reach for ...