Researchers at the Icahn School of Medicine at Mount Sinai in New York have identified and described a previously unknown recessive neurodevelopmental disorder (NDD) that appears to be the most ...

Add Yahoo as a preferred source to see more of our stories on Google. Scientists used a viral gene therapy to restore brain function in mice with SYNGAP1-related disorders, reducing seizures and ...

Discovery will enable tens of thousands of families affected by this previously hidden genetic condition to receive closure through genetic diagnosis.

Genetic testing can help doctors diagnose some neurological disorders, such as Huntington’s disease. It can also provide insights into a person’s risk of future health conditions. Genetic testing ...

A 6-year-old girl is one of more than 80 people worldwide who has finally received a diagnosis of a new condition following ...

Doctors warn cousin marriages raise birth defect risk 2-2.5x due to shared recessive genes; genetic counselling can help reduce risks.

March 30 (Reuters) - The U.S. Food and Drug Administration has approved a higher-dose version of Biogen's drug for a rare ...

A single one-time gene therapy could free patients with α-thalassemia, a rare and debilitating blood disorder, from the burden of lifelong transfusions. A single one-time gene therapy could free ...

Genetic risk in mental illness is not equal, with some disorders highly distinct and others sharing broad inherited vulnerability.

Rutgers‑led study of 2.2 million people finds addiction risk is driven more by genes tied to impulse control and reward ...

A new study has brought scientists one step further in the direction of developing a cure for a brutal group of rare brain disorders known as SYNGAP1-related disorders, or SRDs. Researchers were able ...