Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism by which brain cells die. The findings raise the possibility that similar ...

No gene acts alone: interacting variants and protein partnerships can worsen, mask or even rescue disease risk, demanding ...

A whole lot more than just one genetic mutation determines whether and how disease develops. lvcandy/DigitalVision Vectors via Getty Images Genetic inheritance may sound straightforward: One gene ...

"It's a slow-moving train wreck," Mike Graglia says about his 12-year-old son Tony's rare genetic disease with no cure. Caused by a tiny fluke of nature—a mutation in a gene known as a SYNGAP1—the non ...

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

This photo provided by Emilys Entourage in April 2025 shows Emily Kramer-Golinkoff, who has cystic fibrosis caused by a rare genetic mutation, during a trip to Maine. (Emilys Entourage via AP) ...

Among the forms of monogenic macular degeneration, the most common is Stargardt disease. This disease is caused by mutations in the ATP-binding cassette transporter alpha 4 subunit (ABCA4) gene, ...

In patients with retinitis pigmentosa (RP), crucial cells in the retina known as rods and cones die over time; night ...

Sperm from a single donor in Europe has reportedly been used to conceive at least 67 pregnancies, although the donor carried a rare cancer-causing mutation. The donor’s mutation has been linked to ...

A fundraiser has been organized to aid Trinity McCall, 5, (right), seen with her father, Dylan, brother, Thomas, and mother, Kayla. Trinity has a rare condition known as the ATP6V0c genetic mutation.

Cabinet Peaks Medical Center is proud to offer a convenient, affordable, and accurate genetic testing option for men and ...