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.

08/09/2024

Join Rett U on Tuesday August 20th at 8 PM EST to learn about IEP Language and prepare yourself for the school year! We will be trying a registration system for web chats so we can provide a Rett friendly experience. Please register here if you are interested in attending: https://buff.ly/3yjS86R Email kourtney@gp2c.org or lizzie@gp2c.org if you have any questions.

07/09/2024

The Diagnostic Experience of Male Rett Syndrome is an online survey that collects information on the lived experiences of parents or caregivers of boys with Rett Syndrome from around the world. Funded in part by IRSF, this study will examine key information including the process of getting a male Rett syndrome diagnosis, your son’s systems of care, and your priorities for his health needs. The Diagnostic Experience of Male Rett Syndrome study is available to parents or caregivers of boys (alive or passed) with Rett Syndrome.

Learn more about this study and how to join here: https://clinicaltrials.gov/study/NCT06346106

Thank you to the families, doctors, and researchers from across the world who have joined forces to continue to advance research and advocacy for males with Rett Syndrome.

05/07/2024

With newer therapies now available for the treatment of , it is essential that the challenges of managing patients with in resource-poor areas or “care deserts” be addressed. Access new CME education produced in partnership with Medlive and National Organization for Rare Disorders, Inc. (NORD) here: https://bit.ly/4bf3l6y

02/14/2024

At ASCEND 2022, Drs. Tim Benke, Jeff Neul, and Alan Percy led a candid session with the families of males with Rett syndrome. During that discussion, it was revealed that many of these families experienced a delay in diagnosis and care, perhaps because of the incorrect notion in the healthcare system that "boys cannot have Rett syndrome." This study hopes to begin to change that.

The Diagnostic Experience of Male Rett Syndrome is an online survey that collects information on the lived experiences of parents or caregivers of boys with Rett Syndrome from around the world. Funded in part by IRSF, this study will examine key information including the process of getting a male Rett syndrome diagnosis, your son’s systems of care, and your priorities for his health needs. The Diagnostic Experience of Male Rett Syndrome study is available to parents or caregivers of boys (alive or passed) with Rett Syndrome.

Learn more about this study and how to join in our myRett Trial Finder tool: https://www.rettsyndrome.org/rett-research-ready/ #?tid=/widget/clinicaltrial/330809/the-diagnostic-experience-of-male-rett-syndrome/

Thank you to the families, doctors, and researchers from across the world who have joined forces to continue to advance research and advocacy for males with Rett Syndrome.

02/07/2024

My Rett Ally is a better way to simplify, organize, and safely share your child’s most important medical & care information all in one web app made exclusively for the Rett syndrome community. Have you tried it yet? Learn more about My Rett Ally, powered by mejo, and Samantha's journey here: https://www.rettsyndrome.org/aboutmyrettally/

01/31/2024

RNE is hosting a movie night for children in the rare disease community on February 16th, 2024 from 7:00PM-8:30PM ET!

The first 50 pediatric (18 years old and under) patients with a rare or chronic condition to sign up by February 2nd will receive a special gift in the mail! Siblings and other family members are always welcome to join in on the fun.

If your child is interested in participating, please take a moment to fill out this form: https://ow.ly/lB8Y50QtfyV

12/11/2023

Whitehead Institute Founding Member Rudolf Jaenisch and colleagues have developed molecular genetic tools that can rescue neurons affected by Rett syndrome, a neurodevelopmental disorder linked to intellectual disability.

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