International Rett Syndrome Foundation

The meeting recap of the 2024 IRSF Rett Syndrome Scientific Meeting is now available! The meeting talks offer a glimpse at the incredible advancements being made in understanding the biological basis of #Rettsyndrome, and the progress in learning how to treat it. IRSF is proud to host this gathering of Rett experts every year to help share knowledge and resources to propel cutting-edge research and the next wave of treatments. The full recap is available here: https://lnkd.in/e5Ym8uNM IRSF would like to thank Mackenzie Smith, PhD candidate in the Gogliotti Lab and meeting presenter, for contributing to this recap.

IRSF is proud to announce the appointment of Parthy Evans and Steve Marconi, CPA to its Board of Directors! “We are thrilled to welcome Parthy and Steve to our Board. Their extensive professional expertise, combined with their personal connections to Rett syndrome, make them uniquely suited to help drive our mission forward. Their insights will strengthen our efforts to foster groundbreaking research and enhance resources for families impacted by Rett syndrome.” - Melissa Kennedy, IRSF CEO Learn more about these Board members and how they will support IRSF's mission here: https://lnkd.in/gXinX5rt

Registration is NOW OPEN for our fall RettEd Day at Children's Hospital of Philadelphia! Join us in person for a rich and informative day of topics and discussion covering research updates, medical and therapeutic intervention strategies, communications strategies, and more. Our RettEd days are geared toward families, caregivers, educators, clinicians, and therapists in the local area wanting to connect with experts in the field of Rett syndrome. Registration is just $10 per person and free for individuals with Rett, with thanks to our 2024 empowerment sponsors, Acadia Pharmaceuticals Inc. and Taysha Gene Therapies. Space is limited! Register today: https://lnkd.in/gtzTqaHS.

RNA editing is a promising technique for correcting certain point mutations but needs careful control to achieve accuracy. In this recently published study based on research funded in part by IRSF, researchers applied a novel strategy to enhance RNA editing’s precision and prevent undesirable, random editing. This approach proved successful in restoring normal MeCP2 in the brain of Rett mice, paving the way for RNA editing as a potential genetic therapy for Rett syndrome in the future. Read the article: https://lnkd.in/ekuVHVFS

You're invited to join us for this live RettEd session focusing on supporting students’ communication needs during school transitions. During this webinar, Emily Cleer Estades, a licensed SLP and mother to a 24-year-old with Rett syndrome, and Andrea Etkie, a licensed SLP and Rett syndrome researcher, will offer advice on advocating for your child and ensuring successful IEP/transition meetings, present evidence-based strategies to ensure your child's needs are met, answer your pre-submitted questions, and more. This session aims to combine professional expertise with personal experience to enhance communication support during academic transitions for students of all ages with Rett syndrome, with emphasis on preparing for Adulthood Transition conversations that begin around age 14. Register and submit your questions for the speakers here: https://lnkd.in/gq3zJKfE

We are delighted to share that Rett syndrome is pending in the FY25 Senate Defense funding report as a topic eligible for federal Department of Defense (DoD) research through the Peer Reviewed Medical Research Program (PRMRP)! As Congress seeks to finalize the final FY25 Defense funding bill, please use our simple and easy Advocacy Tool to write your Senators and Representatives, urging them to ensure that Rett syndrome is included as a PRMRP topic in the final bill – and also thank them for their continued support of Rett research! Learn how at rettsyndrome.org/advocacy.

Taysha Gene Therapies today announced several updates on the REVEAL Phase 1/2 clinical trial of investigational gene therapy TSHA-102 for Rett syndrome: - Interim safety data at six weeks from the first high-dose patient in the adolescent and adult study showed no SAEs or dose-limiting toxicities. - The IDMC approved dosing a 2nd participant in this high-dose cohort, and the dosing of the first participant in the high-dose cohort of the pediatric trial. - Health Canada authorized the ongoing pediatric study to expand into Canada. Read the full press release from Taysha here: https://lnkd.in/gQb3PAjN Stay up-to-date on all clinical trials for Rett syndrome on our website: https://lnkd.in/gQYpibc

Today, Neurogene Inc. announced that its investigational gene therapy, NGN-401, received Regenerative Medicine Advanced Therapy (RMAT) designation from the U.S. Food and Drug Administration (FDA) for the treatment of Rett syndrome. This designation is granted for regenerative medicines with preliminary clinical evidence that indicates that the drug has the potential to address unmet medical needs. Benefits include early and frequent communications with FDA senior managers, intensive guidance on efficient drug development and eligibility for an Accelerated Approval pathway and Priority Review. Read the full release from Neurogene here: https://lnkd.in/ggmK-pzX

The photos are in! Check out some highlights from the ASCEND 2024 Rett Syndrome National Summit, presented by Acadia Pharmaceuticals Inc., or follow these links to view the full photo albums from this year's event: Scientific Meeting: https://lnkd.in/dpstY-WM Family Conference: https://lnkd.in/dptBuitV Thank you to everyone who submitted photos!💜

Don’t miss this LIVE roundtable discussion developed in partnership with National Organization for Rare Disorders & International Rett Syndrome Foundation! Hear panelists discuss their experience integrating novel treatments for #RettSyndrome (#RTT) into clinical care 👉 https://bit.ly/4cRCzSY 🏷️ #FreeCME #CME #MedicalEducation #MedEd #IRSF #CoE