Rett syndrome is a rare developmental disorder, most often due to a mutation in the MECP2 gene on the X chromosome, but it’s not usually inherited. Advances in genetics have launched a new era in ...

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) can have the same genetic cause, a discovery that won ...

Research on Tourette’s indicates that the condition is strongly influenced by inherited genetic factors, with environmental factors also contributing to its development. Tourette syndrome is a ...

Researchers have been trying to solve the mystery of a rare genetic disorder called spinocerebellar ataxia 4 (SCA4) for many years. The disease causes impairments in movement and balance, and these ...

SYNGAP1 encephalopathy is a rare genetic disorder for which there is no treatment, causing epilepsy, intellectual disability, psychomotor delay and, frequently, autism.

A new study has provided new insights into the the genetic overlap among some psychiatric disorders, and can help explain why it’s not uncommon for several of these disorders to arise in the same ...

Researchers have found that a new base-editing gene therapy can help treat a rare neurodevelopmental disorder called Snijders Blok–Campeau syndrome caused by mutations in the CHD3 gene. A specialized ...

An inherited form of blindness directly comparable to a common inherited optic nerve disease in humans has been discovered in ...