New studies contradict earlier findings on Rett syndrome

20 mayo 2015

Bone marrow transplant does not rescue mouse models of Rett syndrome, a severe neurological disease that affects very young girls, a new study shows. The findings contradict seemingly promising results published in 2012, which initiated a clinical trial for human patients. Rett syndrome is caused by mutations in the X-linked MECP2 gene and affects about 1 in every 10,000 girls (it is most often fatal in boys at or near birth). Rett syndrome causes many disabilities, both intellectual and physical.