Lost connections: Neurons that have excess MECP2 expression typically develop excess synapses (green and red) — but blocking TCF20 protein returns levels to normal. Researchers have identified a new protein complex that shapes the function of the MECP2 protein, encoded by the gene mutated in most cases of Rett syndrome. The complex reveals a novel […]
People with mutations in the PAX5 gene have a distinct neurodevelopmental syndrome characterized by a range of traits, including developmental delay, intellectual disability, seizures and autism, according to a new study of 16 children and young adults. Until now, genetic testing did not give people with PAX5 mutations clear answers about their development, says lead […]
When I was diagnosed with ADHD and anxiety at age 8, I didn’t fully understand what these conditions meant. I just knew that I had a mind that couldn’t shut off and an internal voice that tended to worry. That voice told me that everyone in my life expected perfection from me and, at the […]
Jana von Hehn Senior director of research and clinical strategyRett Syndrome Research Trust Rett syndrome affects about 1 in 10,000 female babies, for whom there are no approved medications. (The condition rarely affects boys.) Clinical trials of drugs to treat the condition’s core features — which include motor, eating and breathing problems, and autism — […]
New drug use: Trofinetide appears to ameliorate the features of Rett syndrome, but more data are needed. Investigational drug trofinetide, an insulin-like growth factor 1 (IGF-1) analogue, helps relieve problems like anxiety and breathing problems in girls and young women with Rett syndrome, according to unpublished results from a placebo-controlled study. Rett syndrome is caused […]
Big boost: A potential new gene therapy for Angelman syndrome results in expression of UBE3A throughout the mouse brain within days of a single injection. Courtesy Matt Judson / UNC Injection of a potential new gene therapy for Angelman syndrome prevents many of the key features of neurological development, according to early tests in mice. […]
Governments at all levels have been urged to improve medical care and promote inclusive education for children with Down syndrome or developmental disabilities. This advice was given by a number of guests, including policy makers, doctors, engineers, entrepreneurs and sports administrators, during the publication of a book entitled “The Resolute Father: Lessons from My Journey […]
Green light: A gene therapy trial for Angelman syndrome is set to resume after the FDA suspended it last November. Guido Mieth / Getty Images The US Food and Drug Administration (FDA) has paved the way for the resumption of a clinical trial of gene therapy for Angelman syndrome. The FDA suspended the study last […]
I wear my label with pride. As an elementary school principal, I understand and respect the concerns some parents and even children have with labels. Nobody wants to hear that their child has ADHD or a learning disability or autism or any other condition. But I’m living proof that labels don’t have to be negative. […]
Multi-pronged Approach: New therapies for Rett Syndrome look at the same goal from different angles. Photo by William Mebane In theory, researchers know how to reverse many of the debilitating effects of Rett syndrome: increasing the expression of the protein MECP2. People with this condition typically have a mutated copy of the MECP2 gene and, […]
