SYNGAP1 encephalopathy is a rare genetic disorder for which there is no treatment, causing epilepsy, intellectual disability, psychomotor delay and, frequently, autism. It is caused by mutations in the SYNGAP1 gene,

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 Kramer-Golinkoff can’t get enough oxygen with ...

As the body ages, cells naturally accumulate dozens of genetic mutations each year. New research from Boston Children's Hospital, published in Cell, finds that the brain's resident immune cells, microglia,

There are some genes that can promote cancer; they are sometimes called oncogenes, and in tumor cells, mutations are often found in these genes. When they are functioning normally, oncogenes are often involved in normal cell functions, such as the ...

By Dennis Thompson HealthDay ReporterTHURSDAY, April 23, 2026 (HealthDay News) — A new gene therapy to treat inherited deafness produces a lasting cure, a new international study has found. The treatment,

Scientists studying animals at high altitudes discovered a previously unknown mechanism that is key for regulating myelin repair.

A gene known as CTNNB1 encodes for a crucial protein called β-catenin, which has an important role in controlling tissue repair and cell growth. If this gene and its protein are dysfunctional, it can lead to uncontrolled cell growth, which is the central ...

Researchers have discovered new regions of the human genome particularly vulnerable to mutations. These altered stretches of DNA can be passed down to future generations and are important for how we study genetics and disease. Subscribe to our newsletter ...