Changes in brain connectivity before and after puberty may explain why some children with a rare genetic disorder have a ...

Researchers at the University of Gothenburg have identified a small molecule, PZL-A, that restores function in the defective ...

Mutations (blue) in U2 snRNA cause a neurodevelopmental disorder about one-fifth as common as the RNU4-2/ReNU disorder, which ...

Building on their landmark discovery of RNU4-2 / ReNU syndrome last year, the research team has identified the new, related disorder caused by mutations in the non-coding gene RNU2-2. RNU4-2 / ReNU ...

Further genetic testing would show that Sophie has one of a group of rare conditions called CODE (congenital diarrhea and enteropathies) that disrupts the function of cells in the intestine, causing ...

A federal advisory committee that provides guidance on which rare diseases newborns should be screened for has been dissolved ...

In a manuscript published today in the American Journal of Psychiatry titled "Long-Read Genome Sequencing in Clinical ...

On today’s Studio 17, we welcomed two inspiring board members from the Walking with Cora Foundation—Madeline and Suzanne—who shared how their nonprofit is changing lives for children living with ...

Nearly 4 in 5 people with ADHD have a co-occurring condition. We review some of the most common, their link to ADHD, and how ...

Health and Human Services Secretary Robert F. Kennedy Jr. said Thursday the federal government will determine the cause of autism by September, launching what h ...

It is important to diagnose autoimmune disorders in children in a timely manner, else it could lead to other serious health ...

With the annual cost estimated to be about ₹1 crore for each child requiring treatment for ultra-rare diseases, the Medical ...