Vanda Pinto, PhD, science writer —

A new mutation has been found in the MECP2 gene — associated with most Rett syndrome cases — in a toddler with clinical features suggestive of congenital variant-like Rett syndrome, one of the most severe atypical forms of the disease. The child had hypercapnia, or high carbon dioxide levels…

Taysha Gene Therapies is partnering with Astellas Pharma to support the development of its gene therapy programs for Rett syndrome and giant axonal neuropathy, another progressive neurodegenerative disorder. Astellas will invest $50 million to acquire 15% of Taysha and to receive an exclusive option to license Taysha’s…

The Rett Syndrome Research Trust (RSRT) has received a large donation from SANTÉ Realty Investments, a provider of real estate investment services, to help search for a cure for Rett syndrome. SANTÉ Realty’s contribution was inspired by personal events in the life of the company’s CEO, Jim…

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…

The International Rett Syndrome Foundation (IRSF) has seen its federal funding efforts rewarded in the U.S. as a bill — passed in early March for the 2022 fiscal year and signed into law by the president — will include possible research monies for Rett syndrome. The rare neurodevelopmental…

A six-month intensive and individualized exercise program prevented the progression of scoliosis, a sideways curvature of the spine, in most girls and women with Rett syndrome taking part in a study. In two young patients, the intervention completely corrected the spine’s curve. “This result is highly significant as no spontaneous scoliosis curve…

Neurons activated at the same time — a state called neuronal synchrony — and with lesser complexity in the relationships between nerve cells of the brain and the body may contribute to the aimless and repetitive movements of Rett syndrome, a recent animal study suggests. The study, “Collapse of…

Stem cells engineered to produce a constant level of a downstream target of the MECP2 protein, called brain-derived neurotrophic factor (BDNF), increased the development of new neurons and prevented body weight loss in a mouse model of Rett syndrome. The study with that finding, “Brain-Derived Neurotrophic Factor Secreting…

Treatment with fluoxetine, a type of antidepressant sold under the brand name Prozac, increased the number of cells producing the protein MeCP2 — defective in most cases of Rett syndrome — in several brain regions of a mouse model of the disease, a study reported. These effects were…

Shape Therapeutics has raised $112 million in financing to support work into developing its portfolio of RNA technologies to potentially treat genetic diseases, including Rett syndrome. “We have witnessed the power of [messenger RNA] in the vaccine space and are now entering a new era where we can…