Columbia's Silence ALS program is testing spinal antisense therapy in a high‑risk patient; early EMG tests normalized.

A newly identified gene mutation may help explain why schizophrenia patients struggle to update their understanding of ...

University of Virginia School of Medicine scientists have used a next-generation form of gene editing to fix the underlying cause of a severe form of epilepsy in lab mice.

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 ...

Every few months for the past three years, Jeff Vierstra has been receiving infusions in his spine that target and disable a ...

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) ...

Sarah Diepstraten receives funding from the National Health and Medical Research Council, Cure Cancer Australia and My Room Children's Cancer Charity. John (Eddie) La Marca receives funding from ...

There are about 80,000 new cases of bladder cancer every year in the US alone. About one-third of cases are diagnosed at late stages when the disease is hard to treat. Scientists have now learned more ...

Human cells usually contain two copies of most genes, one of which comes from the mother while the other comes from the father. It's long been thought that usually these two copies, or alleles of ...

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 ...

The PLN gene mutation causes heart failure and sudden cardiac death. Experts say West Michigan's Dutch community could be ...

A gene called KLF5 may be a key force behind the spread of pancreatic cancer—but not in the way scientists expected. Rather than mutating DNA, it rewires how genes are turned on and off, helping ...