Dear Rett Community,
Last month, IRSF announced our latest research investment, awarding nearly $2M in grants to seven visionary investigators whose projects aim to deepen our understanding of Rett syndrome and pave the way for transformative treatments.
As Vice President of Research at IRSF, I have the privilege of witnessing the bold ideas and tireless commitment researchers bring to this field. The recipients of our latest research awards reflect our strategic focus on high-impact research that spans discovery science, therapeutic development, and clinical readiness. These grants – both Innovation and Clinical Research Awards – reflect our belief that every stage of the research pipeline is critical to delivering hope and real change for families.
We’re in a pivotal moment in Rett research. Our growing understanding of the MECP2 gene and its role in brain development is revealing new therapeutic opportunities, but there is still so much to learn. With families and clinicians eager for more options, it’s critical that we support both foundational research and innovative approaches that accelerate treatments and improve lives.
At IRSF, our strategy is built on three pillars: advancing critical research, driving therapeutic development, and ensuring clinical trial success. These 2024 funded projects contribute to all three, representing a powerful cross-section of the field’s most promising work. I’m proud to share a little more about each one.
- Dr. Xiaowei Zhuang is investigating how MeCP2 shapes 3D genome architecture and gene transcription during brain development. Using MERFISH, her team will map gene activity and genome organization across individual brain cells in Rett models to better understand the molecular mechanisms of disease progression.
- Dr. Zhaolan Zhou is diving deep into the protein-level changes at neuronal synapses in female mouse models. His work seeks to identify molecular disruptions caused by MeCP2 mutations and discover precise synaptic targets for intervention.
- Dr. Alyssa Huff is tackling one of the most common symptoms in Rett – swallowing difficulties. Her lab will study the neural circuits involved in swallowing and breathing coordination, offering insight into how these functions go awry in RTT and how we might restore them.
- Dr. Nicoletta Landsberger is pursuing an RNA-based therapeutic strategy using engineered tRNAs to bypass MECP2 nonsense mutations. If successful, this approach could restore MeCP2 protein production for more than 30% of individuals living with Rett syndrome.
- Dr. Crystal Engineer is testing whether vagus nerve stimulation (VNS) can reduce sensory hypersensitivity, anxiety, and social withdrawal. By combining VNS with behavioral therapy in Rett model rats, her research aims to rewire sensory circuits and improve quality of life.
- Dr. Jessica MacDonald is exploring how the premature formation of perineuronal nets disrupts brain plasticity in Rett syndrome. Her work could uncover novel strategies to “reopen” developmental windows and support cognitive and behavioral gains.
- Dr. Sarika Peters is using wearable technology and machine learning to monitor sleep, breathing, and behavior in Rett, with the goal of creating remote models for care and clinical trials.
Moving the Field Forward—Together
These awards not only support outstanding science—they represent real hope. Hope for new therapies. Hope for better care. Hope for a future where families no longer have to wait for answers. We know that research is a long road, but every step we take is guided by the strength and determination of our community.
I’m incredibly proud of IRSF’s role in enabling this work. As always, I want to thank our dedicated scientific reviewers, our donors who make this possible, and the families whose support fuels our work.
We’ll continue to invest boldly, collaborate openly, and move with urgency—because the Rett community deserves nothing less.
CLICK HERE to learn more about our funded projects and research strategy.
With gratitude,
Nupur Garg, PhD
Vice President, Research
International Rett Syndrome Foundation