Rett Syndrome Research Trust Advances Genetic Medicines with $6.4 Million Investment
The Rett Syndrome Research Trust (RSRT) has awarded $6.4 million in research grants to accelerate the development of genetic medicines for Rett syndrome, bringing its total investment in research to $92 million since its founding in 2008. This funding aims to transform the treatment landscape for this rare and devastating neurodevelopmental disorder.
Understanding Rett Syndrome
Rett syndrome is a rare genetic neurodevelopmental disorder caused by mutations in the MECP2 gene on the X chromosome. Primarily affecting girls, though it can occur in boys, the disorder typically manifests between 12 and 18 months of age. Initially, development may appear normal, but affected children experience a loss of speech, purposeful hand use, and motor skills. As the condition progresses, individuals often develop seizures, breathing difficulties, and severe gastrointestinal issues. Despite these physical challenges, cognitive abilities are believed to remain largely intact. Individuals with Rett syndrome typically require lifelong, around-the-clock care.
RSRT’s Strategic Approach to Curing Rett Syndrome
Since 2008, RSRT has focused on a disciplined approach to finding a cure for Rett syndrome, encompassing funding scientific research, building essential infrastructure, forging partnerships with biopharmaceutical companies, and promoting promising technologies toward clinical application. According to Monica Coenraads, Chief Executive Officer of RSRT, “Since 2008, RSRT has taken a disciplined approach to curing Rett syndrome—funding the science, building the infrastructure, partnering with biopharma, and pushing promising technologies toward clinical reality.” The organization’s strategy centers on developing genetic medicine approaches that target the root cause of the disorder while simultaneously investing in next-generation delivery platforms.
Highlights of the 2025 Research Awards
- RNA Trans-Splicing Innovation: Funding was awarded to programs advancing RNA trans-splicing, including collaborations with ReSplice Therapeutics and Tacit Therapeutics. These efforts aim to replace mutant MECP2 exons at the RNA level, preserving the gene’s natural regulatory control. A single trans-splicing therapeutic could potentially address 97% of all MECP2 mutations, with a second targeting the remaining 3%.
- Advancing DNA Base Editing: RSRT is investing in partnerships with Profluent to AI-design next-generation base editors, Jackson Laboratory and Senti Biosciences to develop drug-inducible control circuits for regulated editing activity, and the University of California Davis to evaluate long-term safety risks.
- Transforming Brain Delivery: Recognizing the challenges of delivering therapies to the brain, RSRT is investing in both viral and non-viral delivery methods. This includes access to Apertura Gene Therapy’s blood-brain-barrier penetrating capsid, CapX, as well as collaborations with QurCan Therapeutics and Evox to explore nanoparticle-based and exosome-based delivery systems.
- Manufacturing and Process Development for CapX: RSRT is funding perform to scale up the manufacturing of CapX, ensuring a high-quality, reproducible, and safe product for clinical use.
- Revisiting Gene Replacement: RSRT is supporting safety studies for gene replacement therapies using engineered brain-penetrant capsids.
- Clinical Acceleration Through Biomarkers: Additional funding was awarded to Victor Faundez and Sasha Jacobs to expand validated cerebrospinal fluid biomarkers into blood-based assays, enabling faster and less invasive monitoring of treatment response in clinical trials.
RSRT’s Role in the Rett Syndrome Research Landscape
RSRT is the largest global funder of Rett syndrome research, actively identifying relevant genetic medicine approaches, recruiting leading experts, mitigating risks, and partnering with biopharmaceutical companies to advance research into clinical trials. Robert Deans, RSRT’s Chief Technology Officer, emphasized this proactive role: “RSRT is the largest global funder of Rett syndrome research, but we don’t merely fund research—we actively work to identify the genetic medicine approaches most relevant for Rett, we recruit thought leaders, both academic and industry, to work on these approaches, we derisk and we uncover biopharma partners to advance the work into clinical trials.”
Looking Ahead
With multiple clinical trials in gene therapy for Rett syndrome already underway, RSRT launched a $40 million initiative, Roadmap to Cures, in 2024, aiming to bring three additional genetic medicines to clinical trials by 2028. RSRT’s mission remains focused on curing Rett syndrome and improving the lives of those affected by this challenging disorder.
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