Mutations in the MAGEL2 gene, which cause Schaaf-Yan syndrome (SYS) —an ultra-rare disease that affects neuronal and cognitive development— generate truncated, non-functional proteins that tend to ...

Although the genetic cause of many diseases have been identified, it’s estimated that as many as 70% of patients with a rare disorder do not know what causes their disease. Millions of people live ...

Deafness, the most common sensorineural hearing loss at all stages of life, occurs either independently or as part of ...

A novel molecular pathway to explain how a mutation in the gene ACTA2 can cause individuals in their 30s -- with normal cholesterol levels and no other risk factors -- to develop coronary artery ...

In Brazil, the early detection of genetic alterations in lung cancer through liquid biopsies could be a valuable tool for ...

What Is the MTHFR Gene Mutation? The MTHFR gene mutation is a variation in the MTHFR gene. This gene normally tells your body how to make the MTHFR protein. You need this protein to process folate, ...

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 ...

CHAMPAIGN-URBANA, Ill. (WCIA) — Researchers at the University of Illinois have found a direct link between a genetic mutation and schizophrenia. The scientists found a genetic mutation that two humans ...

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 ...