Patients with CaV2.1 channelopathies face severe and often debilitating symptoms, such as seizures, migraines, tremors, and ...

Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism by which brain cells die. A team led by scientists at the German research ...

New York, NY [December 15, 2025] —Scientists at the Icahn School of Medicine at Mount Sinai have developed a novel artificial intelligence tool that not only identifies disease-causing genetic ...

Tatiana Schlossberg, the youngest granddaughter of President John F. Kennedy, recently revealed she was diagnosed with terminal acute myeloid leukemia (AML) due to a rare genetic anomaly. In a ...

Scientists have identified mutations in the CPD gene as a key cause of a rare congenital hearing loss, revealing how disruptions in arginine and nitric oxide signaling damage sensory cells in the ear.

BREAST CANCER SURGERY. ACCORDING TO A GENETIC COUNSELOR AT MERCY MEDICAL CENTER, YOUR CHANCE OF DEVELOPING BREAST CANCER WITHOUT A FAMILY HISTORY OR NO OTHER SPECIAL CIRCUMSTANCE IS ABOUT 12%. THE ...

A research team in Japan has developed an innovative system that can accurately detect genetic mutations in the brain tumor within just 25 minutes. Genetic mutations are crucial markers for diagnosis ...

A new approach to gene therapy for retinitis pigmentosa may help patients with advanced disease regain vision regardless of which genetic mutation is causing the condition. An optogenetic therapy ...

In 2023, Jill Martin took a test that changed her life. She underwent genetic testing for breast cancer and learned she had a BRCA2 mutation, which increases one’s risk of developing breast and other ...

A man sits outside and holds a slim menthol cigarette between his fingers. Close-up with focus on the cigarette. The study provided a comprehensive examination of how lifestyle and environmental ...

Researchers at Mass General Brigham in Boston have designed a custom gene editing technique that corrected the mutation behind a rare blood vessel disease in mice, paving the way for further ...