Rett Syndrome Research Program at Boston Children's Hospital

Rett Syndrome Research Program at Boston Children's Hospital Ranked #1 on the Best Children's Hospitals Honor Roll for 2014-15 by U.S. News, B*H has one of the l

The Rett Syndrome Research Program at Boston Children’s Hospital is committed to pursuing novel research to improve the lives of children and adults living with RTT. Our research projects focus on Rett syndrome and Rett-related disorders, such as, CDKL5, FOXG1 and MECP2 Duplication Syndrome. We collaborate with local scientists from MIT and Harvard Medical School and are partnering with other Rett Syndrome Centers across the country. The Rett Syndrome Research Program is led by Dr. David Lieberman. The Rett Syndrome Program at Boston Children’s is made up of dedicated clinicians and researchers working to better understand the underlying biology of the disease and identify innovative treatments to improve the quality of life of individuals with RTT. Team members are available to support families and study participants as they partake in our studies, as well as ensure they have a positive experience while working with us to further our understanding of RTT. For families in the New England area, the Rett Syndrome Association of Massachusetts (RSAM) provides great information on upcoming events in the area as well as news updates within the Rett community. Together RSAM and the Rett Syndrome Research Program at B*H host annual lecture series for parents as well as the Blue Sky Day event every October. You can find out more information on RSAM here: http://www.rettsyndromemass.org/Pages/default.aspx

02/28/2025

Today, we stand together with the more than 300 million people with rare diseases worldwide to raise awareness and generate support on . 💜

Rett syndrome is a rare and devastating neurodevelopmental disorder that impacts nearly every aspect of an individual’s life. It is caused by a spontaneous pathogenic variant on a gene called MECP2, which is important for brain development and for properly activating and deactivating other gene functions throughout the entire body. Every individual with Rett is unique, and so are their symptoms, which can include near-constant repetitive hand movements, seizures, scoliosis, digestive problems, and breathing issues. Individuals with Rett can live into adulthood but require lifelong care. Though Rett occurs most often in females (approximately 1 in 10,000 births), boys can have Rett, too.

Rett is rare, but hope doesn't have to be. Join us today in raising awareness on behalf of everyone on a rare medical journey. Learn more about Rett syndrome and how to get involved this Rare Disease Day and beyond at rettsyndrome.org/get-involved.

12/12/2024

RSRT invests $2.65 Million into one of the more promising modalities for novel therapeutics to help reach clinical trials, with an additional $5.5 Million should the data continue to be promising at that point.

10/19/2024

The data provide the first clinical evidence of RNA editing, a burgeoning field that's drawn interest from biotechs and pharmaceutical companies alike.

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