Gene editing can repair a DNA error in mice that causes Dravet syndrome, a rare, incurable, and potentially deadly form of ...

A new worm model developed by Brown University researchers could play a key role in treating a rare genetic disease that ...

Lissencephaly is a spectrum of rare, genetic disorders in which the brain fails to develop its hallmark folds. The disorders are often associated with seizures and intellectual disability and ...

Scientists at Sanford Burnham Prebys Medical Discovery Institute and an international team of collaborators have defined a new genetic disease marked by premature aging and deficits in brain function.

Individuals that share the same deletion of a portion of chromosome 16 are at risk of developing neurodevelopmental disorders ...

Differences in the physical shape and wiring of the brain can directly contribute to the development of attention and social ...

Metabolic dysfunction-associated steatotic liver disease (MASLD) affects nearly one in three adults around the globe. It starts when fat builds up inside the liver’s cells. Over time, this buildup can ...

Imagine facing a condition so rare that fewer than 100 people in the world are known to have it - a disorder that can disrupt a child's ability to walk, talk or even eat. While there is still much to ...

Genome-wide association studies identify genetic overlap among disorders, providing evidence that their distinctions may be misleading One major difference between psychiatric disorders and purely ...

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 ...

Jeff and Deena Leider are pushing federal officials to expand access to a treatment for their two sons' rare disease.