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

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

A study led by Aaron Hobbs, Ph.D., and Rachel Burge, Ph.D., at MUSC Hollings Cancer Center, reveals why a specific gene ...

A Northern Kentucky family is in a desperate search for answers as their 10-year-old boy battles a rare brain disorder.

Researchers create Chinese Immune Multi-Omics Atlas, profiling more than 10 million immune cells and identifying 73 types of immune cells.

A study suggests overactive VCP may contribute to ALS nerve damage by disrupting nuclear pore proteins in genetic ALS.

Learn how hypertrophic cardiomyopathy (HCM) affects families, the importance of genetic testing, and why regular screening is ...

In a landmark achievement placing Pune firmly on the global medical research map, doctors at the Neonatal Intensive Care Unit (NICU) of B. J. Government Medical College and Sassoon General Hospital, ...

Researchers identified a new genetic mutation that may allow some people to survive, even thrive, on three hours of sleep. The mutation is called SIK3-N783Y. Scientists said mice test subjects ...

Women with certain genetic mutations are at extremely high risk of ovarian cancer. Now, some researchers are trying a new ...

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 ...