Get regular updates to your inbox.
Females with classic Rett syndrome have an inactivation of the paternally-inherited X chromosome — which most often contains disease-causing mutations in the MECP2 gene — in their cells, a study shows. These findings suggest that while most cells in classic Rett patients may not have the mutated gene activated, the…
Read more
The U.S. Food and Drug Administration (FDA) has granted rare pediatric disease and orphan drug designations to DepYmed’s orally available small molecule PTP1B-inhibitor therapy being developed to treat Rett syndrome. According to DepYmed, a Phase 1 clinical trial is planned for later this year to investigate what the…
A Russian military plane crash near Tetiana Zamorska’s home in Kyiv, Ukraine, was a sign that it was time for her and her family to leave. The treacherous, 34-hour pilgrimage that ultimately brought the group of eight by car to temporary accommodations in neighboring Poland last month was physically and emotionally difficult,…
Columnist and Rett parent Jacqueline Babiarz honors her sisters — the strong, influential women who have taught her many important lessons.
Want to stay up to date on all the latest on Rett syndrome? Click the link below to find more news and information.
Rett syndrome is a rare genetic disorder that mostly affects females. The disease is characterized by normal early development, followed by slowed growth and a loss of motor control. Learn more about the disease here.
Most cases are caused by a mutation in the MECP2 gene. Scientists have identified mutations in CDKL5 and FOXG1 genes in those who have atypical or congenital Rett. Learn more about what causes the disease here.
Rett syndrome is associated with problems in cognitive, sensory, emotional, and motor skills, and across the nervous system that controls involuntary (or autonomic) functions. Learn more about the symptoms of the disease here.
Get regular updates to your inbox.
