Scientists have uncovered how mutations in the MeCP2 gene lead to Rett syndrome, a devastating neurological disorder. By ...

Vinnie James was born with Goldenhar Syndrome, an extremely rare condition that sees the child born with malformations of the ...

The nonprofit foundation, n-Lorem developed personalized medicine for a child with rare leukodystrophy.

A clinical research team from the LKS Faculty of Medicine, the University of Hong Kong (HKUMed), and international genetic researchers led a global research study using multi-omics analysis and ...

A new treatment option has become available for severe epilepsy: fenfluramine, which is now available on the NHS ...

Immune cell populations of people with post-vaccination syndrome had lower levels of effector CD4 T cells and higher levels ...

Rett syndrome is a rare genetic disease affecting 1 in 10,000 newborn girls, characterized by sudden regression around 1 year ...

Under terms of the deal, Stoke will spearhead global development of zorevunersen, while Biogen will receive exclusive rights ...

Biogen and Stoke Therapeutics have announced a partnership aimed at advancing a disease-modifying treatment for Dravet ...

The drug is the first non-cannabinoid option for patients with LGS and an alternative to Jazz Pharma's Epidyolex (cannabidiol ...

New life-changing treatment option fenfluramine recommended for type of rare epilepsy, Lennox–Gastaut syndrome ...

Hundreds of children with severe epilepsy will be able to benefit from a groundbreaking new treatment on the NHS that could significantly reduce their seizures, providing new hope for them and their ...