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

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

"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 ...

Emily Kramer-Golinkoff can’t get enough oxygen with each breath. Advanced cystic fibrosis makes even simple things like walking or showering arduous and exhausting. She has the most common fatal ...

Researchers from Radboud university medical center and University of Basel have discovered new genetic causes of inherited blindness. Their study shows that changes in specific pieces of DNA, which ...

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, ...

Scientists at the Icahn School of Medicine at Mount Sinai have developed a novel artificial intelligence tool that not only identifies disease-causing genetic mutations but also predicts the type of ...

The discovery was made in an extremely premature male infant born at 27 weeks of gestation, weighing just 720 grams, who was ...

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

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.

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) ...