Rett Syndrome News

May 11, 2022May 11, 2022

A Few Cells With Defective MECP2 Can Cause Symptoms, Study Suggests

Rett Syndrome News

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 ... Read more

May 4, 2022May 4, 2022

Rare Pediatric, Orphan Drug Status Granted to DepYmed’s Rett Therapy

Rett Syndrome News

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. ... Read more

May 2, 2022May 2, 2022

Organizations Rally to Help Ukrainian Rare Disease Patients

Rett Syndrome News

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 ... Read more

April 27, 2022April 27, 2022

New Study Highlights Barriers to Dental Care for Rett Patients

Rett Syndrome News

Several barriers to dental care — notably a lack of understanding by clinicians and long waitlists — were reported by caregivers in a recent study as making it more difficult ... Read more

April 21, 2022April 21, 2022

Europe Awaits Proposed New Framework for Sharing Health Data

Rett Syndrome News

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 ... Read more

April 20, 2022April 20, 2022

Klinefelter Syndrome Boys Show Rett Symptoms More Than Believed

Rett Syndrome News

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 ... Read more

April 13, 2022April 13, 2022

Telehealth Added to Latest Digital-friendly NORD State Report Card

COVID-19 News, Rett Syndrome News

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 ... Read more

April 6, 2022April 6, 2022

Taysha Launches Clinical Program to Test TSHA-102 Gene Therapy

Rett Syndrome News

Taysha Gene Therapies has launched the clinical development of TSHA-102, an investigational gene therapy for Rett syndrome. The move follows the recent approval of a clinical trial application (CTA) by ... Read more

March 30, 2022March 30, 2022

Research in Rett in US Supported by 2022 Federal Funding Bill

Rett Syndrome News

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 ... Read more

March 25, 2022March 25, 2022

Activating Brain Receptors in Mice Reverses Rett Learning Deficits

Rett Syndrome News

Activating the mGlu2 and mGlu3 receptors in the brain reversed learning deficits in a Rett syndrome mouse model, a study reported. The levels of both of these receptors were significantly ... Read more

March 24, 2022March 24, 2022

Increased Education Crucial to Improving Rare Disease Care, Survey Finds

Rett Syndrome News

Healthcare providers involved in diagnosing and treating rare diseases believe that increased physician education and collaboration with specialized facilities will have the greatest positive impact on treating these conditions over ... Read more

March 23, 2022March 23, 2022

Omega-3 Fatty Acid Seen to Restore Energy to Brain Cells Lacking MeCP2

Rett Syndrome News

Treatment with omega-3 fatty acid restored the function of mitochondria, the production centers of cellular energy, in brain cells called astrocytes lacking MeCP2 — the key protein in most cases of ... Read more

March 18, 2022March 18, 2022

Memory Recall in Rett Mice Improved By Activating Brain Cells

Rett Syndrome News

Scientists were able to improve memory recall in Rett syndrome mice by activating a set of inhibitory brain cells called somatostatin-expressing interneurons (SOM), in part by using a miniature microscope ... Read more

March 16, 2022March 16, 2022

RaDaR Serves as Starting Point for Creating Rare Disease Registry

Rett Syndrome News

Patient registries are a hot topic of rare disease research and many organizations are taking advantage of this resource by signing up their patient communities and connecting with researchers. Eric ... Read more

March 11, 2022March 11, 2022

Vitamin D Eases Behavior Problems in Rett Mouse Model

Rett Syndrome News

Supplementing with Vitamin D rescued the altered activity of genes associated with Rett syndrome and improved behaviors in a mouse model, a study showed. The findings indicate that supplementation could ... Read more