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Huda Zoghbi, MD, the neurologist who discovered the MECP2 gene that causes most Rett syndrome cases, has been awarded the 2022 Kavli Prize in the field of neuroscience. Her discovery of the Rett gene provided a straightforward genetic test that allows an early and accurate diagnosis of the rare neurodevelopmental…

Cannabidivarin (CBDV) treatment was well tolerated and reduced the monthly frequency of seizures in five children with Rett syndrome, according to data from a Phase 1 trial. “In our small patient cohort [group] of children with drug resistant epilepsy and MECP2-related RTT [Rett syndrome], CBDV treatment was well tolerated…

NGN-401, a new gene therapy in the pipeline from Neurogene, extended the lifespan and reduced the disease burden in mice with a form of Rett syndrome, the company announced. Researchers also observed that the therapy was safe when delivered to mice or early in the life of…

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…

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,…

Note: This story was updated May 3, 2022, to clarify that survey responses were collected from 216 families in the U.S., U.K., and Canada. Several barriers to dental care — notably a lack of understanding by clinicians and long waitlists — were reported by caregivers in a recent study…

The European Commission is expected to propose a new governing framework for health data next month, called the European Health Data Space (EHDS), with the aim of connecting national health systems to facilitate secure and efficient transfer of data across systems in different European nations. The move is expected to…

Boys with Klinefelter syndrome, a genetic condition caused by an extra X chromosome, more frequently show Rett syndrome-like symptoms than previously recognized, according to a large-scale chromosomal study in boys with neurodevelopmental disorders. The researchers also showed that Rett-like symptoms occurred alongside Klinefelter syndrome mosaicism (KSM), in…

The National Organization for Rare Disorders (NORD) has updated its State Report Card to make it more digitally friendly and added telehealth to its categories of rare disease policy issues in a nod to its increased use during the ongoing COVID-19 pandemic. NORD’s report card project began seven…