Early vitamin B3 treatment may benefit children with rare genetic condition

Teen Walks Independently After Treatment Targets the Genetic Root of Epilepsy

A two-year treatment targeting proteins produced by disease-causing mutations dramatically reduced seizures and led to developmental gains, including helping one teenager walk independently. For children with SCN2A-related developmental epileptic encephalopathy (DEE), seizures can begin alongside serious delays in movement, communication, and other abilities. The rare childhood epilepsy is also one of the most common causes [...]

Early vitamin B3 treatment may benefit children with rare genetic condition

Children with a rare and often fatal genetic condition may benefit from early treatment with vitamin B3, halting their significant deterioration, according to a new study.

Texas Children’s Researcher Earns Prestigious Award to Advance Discoveries in Rare Immune Diseases

Dr. Rui Yang has been awarded the Burroughs Wellcome Fund Career Award for Medical Scientists. Yang’s research focuses on understanding the genetics of immune reactions that underlie severe infectious and autoimmune diseases and working to identify how inherited variations in immune system pathways contribute to susceptibility to infection and immune dysfunction. [Texas Children’s ] Press Release

Vitamin B3 therapy may reduce severity of rare genetic disease

Children born with NAXD deficiency—a genetic disorder that can be rapidly fatal—may have a better future with early, high-dose vitamin B3 (niacin), according to a new study. The research indicates that niacin can slow or interrupt the deterioration triggered by common infections. Led by the Murdoch Children’s Research Institute (MCRI) in collaboration with the Luxembourg Centre for Systems Biomedicine (LCSB), the team expanded scientific underst…