Our commitment to setting up the next wave of Rett breakthroughs continues with the largest annual investment in our Foundation’s history.
By Dr. Dominique Pichard, IRSF Chief Science Officer
We are entering new territory for Rett syndrome. Right now, the FDA is evaluating the first-ever potential treatment specifically targeting Rett syndrome, trofinetide. No potential treatment for Rett syndrome has ever made it this far.
This is a huge milestone, but we are far from being done.
Rett syndrome is a complex disorder, and one treatment will not work for everyone. We need to have an entire medicine cabinet worth of drugs and genetic approaches targeting the underlying issues in Rett syndrome. And with our research investment strategy, IRSF is committed to making this our reality.
I have visions of a day when there are multiple therapies approved for Rett – drugs and genetic treatments – each working in a different way to target the changes that occur due to the loss of MECP2. This is not an either or an or. Both approaches are a must. Our loved ones, the girls, the boys, the women, and the men, who live with Rett syndrome deserve to have days that are better, days with less struggle, days with more independence in their lives.
OUR COMMITMENT TO RESEARCH
At the end of 2022, the Board of Directors of IRSF approved funding for an exciting array of 13 new grants to support Rett research (Read Full Release Here). Coming from scientists and researchers across the globe, this critical research will make inroads toward our goal of more drugs and genetic treatments to help our loved ones with Rett. With over $4 million committed this year alone, we are building on a strong foundation to change the landscape. The investment in the projects below, made possible by the many generous donors who believe in our mission, will get us closer to new drug options, expand genetic approaches, and improve clinical trial readiness and success. Together, we are making history.
Research that Paves the Path to New Drugs to Treat Rett Syndrome:
- Modulation of GDF11-SMAD3 signaling pathway to treat Rett syndrome
Dr. Sameer Bajikar – Baylor College of Medicine
- Integrated multi-level characterization of Rett syndrome disease states
Drs. Qiang Chang, Andre Sousa, Daifeng Wang, and Xinyu Zhao – University of Wisconsin-Madison
- Pilot study to establish abnormal motor network dynamics during reaching and grasping movements in a mouse model of Rett Syndrome
Dr. Adam Hantman – University of North Carolina at Chapel Hill
- Single-molecule investigation of nucleosomes as recruiting hotspots for MeCP2
Dr. Shixin Liu – The Rockefeller University
- The role of transcriptional condensates in Rett Syndrome
Dr. Yi Liu – Whitehead Institute for Biomedical Research
- Advancing an understanding of MECP2 function by identification of methylated RNA targets
Dr. Lee Niswander – University of Colorado, Boulder
- Exploring the formation and function of novel MECP2 genomic binding sites
Dr. Hume Stroud – The University of Texas Southwestern Medical Center
Research that Investigates Genetic Treatments as Curative Approaches:
- Modulating MeCP2 expression heterogeneity in brain cells for increasing gene therapy efficacy and safety in Rett syndrome
Dr. Vania Broccoli – San Raffaele Hospital
- RNA editing-mediated modification of a common nonsense mutation in Rett syndrome
Dr. Ronald Emeson – Vanderbilt University
- Leveraging the RNA binding activity of MECP2 to improve gene replacement therapy for Rett syndrome
Dr. Sonia Guil – Josep Carreras Leukaemia Research Institute
- A CRISPR toolbox for curative strategies for Rett syndrome
Dr. Julian Halmai – University of California, Davis
- Preclinical development of Rett syndrome ASO drugs
Dr. Jeannie Lee – Mass General Hospital
Research that Ensures Clinical Trial Readiness and Success:
- The diagnostic experience of male Rett syndrome
Drs. Tim Benke and Talia Thompson – University of Colorado
Drs. Cary Fu and Jeffrey Neul – Vanderbilt University
Drs. Amitha Ananth and Alan Percy – University of Alabama
CLICK HERE to learn more about these research projects and all the current research receiving IRSF funding.
A LOOK AHEAD: 2023 AND BEYOND
IRSF invests in ALL the essential components that pave the path to success: lab researchers, clinical researchers, clinicians, clinical trials, and beyond. Each step requires collaboration and innovation, and with more than $58 million invested in accelerating advancements toward both treatments and a cure.
In 2023, IRSF will gather the best and brightest to share their science and to think outside the box together at the 2023 IRSF Rett Syndrome Scientific Meeting.
We will bring together IRSF-funded researchers to build bridges, foster collaboration, and decrease timelines to milestones through our new mini-symposiums for researchers.
We will expand the data that is collected in the Rett Syndrome Registry, including a questionnaire specifically designed to better document Rett syndrome in males, opening the door for pharmaceutical companies to gain a deeper understanding of males with Rett syndrome.
And that’s just the beginning. IRSF is excited to continue to forge the path to new treatments for Rett syndrome. We will continue to and increase the success rate by using learnings from other disorders to focus on the specific areas of need for Rett syndrome. We will keep pushing ahead until there are multiple treatment options for Rett so that no one is left behind.
We will not stop until we create a world without Rett syndrome.