A gene therapy showing potential to restore lost developmental milestones in people living with Rett syndrome has earned breakthrough therapy status from the U.S. Food and Drug Administration (FDA). The experimental therapy, TSHA-102, is being developed by Taysha Gene Therapies. A breakthrough therapy designation…
Read more
October is Rett Syndrome Awareness Month, and supporters are going purple to bring attention to the rare genetic condition. “There’s no one right way to raise awareness,” the International Rett Syndrome Foundation (IRSF) says on its website. “Whether you’re posting on social media, sharing your story, or just starting…
Grief is complicated. There’s no playbook, but I wish there were. I try to prepare myself for events that I know will evoke grief, but I can’t stop it from bubbling up. My oldest daughter, Cammy, passed away in December 2023Â at the age of 14 from complications of…
Mutations in the MECP2 gene — which typically underlie Rett syndrome — cause problems in how neurons, or nerve cells, produce energy and communicate, and affect how well they can repair breaks to DNA. That’s according to the findings of a new study, done in both human brain cells…
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.
