My oldest daughter Cammy weighed 40 pounds at her heaviest. Having a 40-pound 5-year-old would be fine, but Cammy was 14 when she weighed that. Her 4-foot-tall, 40-pound frame was at “failure to thrive” for most of her life. Cammy’s weight was always a catch-22 for us. It’s scary and…
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Neurogene expects dosing for a registrational clinical trial of its investigational gene therapy NGN-401 for people with Rett syndrome will start by the end 2025. The U.S. Food and Drug Administration (FDA) agreed to key elements of the trial design over the summer, and Neurogene reports it…
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…
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…
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.
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