We Fund Rett Syndrome Research
IRSF is a leading supporter of trailblazing Rett research through our highly comprehensive scientific strategy. We are advised by the leading research and clinical experts in the world and have funded every major scientific breakthrough in Rett syndrome since its discovery.

IRSF APPROACH
Our Scientific Strategy
IRSF’s highly comprehensive scientific program in Rett syndrome—bolstered by unprecedented industry partnerships—includes the advancement of genetic approaches and developing drugs that improve quality of life, as well as the development of a clinical research network that brings treatments to families.
Over the last decade alone, we have funded nearly 150 research projects to accelerate fundamental research, drug development, and clinical trials in Rett syndrome. Our track record of delivering real results includes funding the discovery that Rett can be reversed, the first gene therapy clinical trial, and the first FDA-approved treatment.
Our 3 Pillars of Research
Our scientific strategy focuses on funding research that covers Rett at every level through our three guiding pillars:
01
Advance Critical Research
We support fundamental research that deepens our understanding of MECP2 and other promising targets. Filling these critical knowledge gaps is essential to helping scientists unlock new insights, develop new treatments, and improve existing ones.
02
Drive Therapeutic Development
We fund translational research that advances promising small molecule, gene therapy, and other approaches through the treatment development pipeline. IRSF works to expand the pipeline while helping companies and institutions developing treatments navigate it.
03
Ensure Clinical Trial Success
We strengthen clinical research by creating connections between clinical trial stakeholders including clinicians, families, FDA, and trial sponsors. At the same time, we invest in essential infrastructure like patient registries and outcome measures, ensuring that potential treatments have the best chance of moving from trials to reality.
Active IRSF-Funded Projects
The following research projects are actively receiving funding from IRSF to advance our fundamental knowledge of Rett syndrome or to treat and cure it. We offer a variety of funding mechanisms to support researchers whose goals align.
Advance Critical ResearchIRSF-Funded Research
IRSF-Funded Research

Integrated multi-level characterization of Rett syndrome disease states
- Qiang Chang, PhD
- University of Wisconsin - Madison

Pilot study to establish abnormal motor network dynamics during reaching and grasping movements in a mouse model of Rett Syndrome
- Adam Hantman, PhD
- University of North Carolina at Chapel Hill

Single-Molecule Investigation of Nucleosomes as Recruiting Hotspots for MeCP2
- Shixin Liu, PhD
- The Rockefeller University

The role of transcriptional condensates in Rett Syndrome
- Yi Liu, PhD
- Whitehead Institute for Biomedical Research

Advancing an understanding of MECP2 function by identification of methylated RNA targets
- Lee Niswander, PhD
- University of Colorado Boulder

Exploring the formation and function of novel MECP2 genomic binding sites
- Hume Stroud, PhD
- University of Texas Southwestern Medical Center

A new view on Rett syndrome and its treatment through whole-brain functional connectomics in model mice
- Liselot Carrette, PhD
- University of California, San Diego

Determine the role of loss of MECP2 in human Rett Brain
- William Lowry, PhD
- University of California, Los Angeles

Dissecting the role of MeCP2 loss-of-function on redox and immune homeostasis. Could the endoplasmic reticulum-mitochondria axis be involved in Rett syndrome?
- Giuseppe Valacchi, PhD
- North Carolina State University

NLRP3 inflammasome inhibitors as new therapeutic approach for Rett syndrome
- Giuseppe Valacchi, PhD
- Università Degli Studi Di Ferraramore
Drive Therapeutic DevelopmentIRSF-Funded Research
IRSF-Funded Research

Modulation of the GDF11-SMAD3 signaling pathway to treat Rett syndrome
- Sameer Bajkar, PhD
- University of Virginia

Modulating MeCP2 expression heterogeneity in brain cells for increasing gene therapy efficacy and safety in Rett syndrome
- Vania Broccoli, PhD
- Ospedale San Raffaele S.R.L. (San Raffaele Hospital)

RNA Editing-Mediated Modification of a Common Nonsense Mutation in Rett Syndrome
- Ronald Emeson, PhD
- Vanderbilt University

Leveraging the RNA binding activity of MECP2 to improve gene replacement therapy for Rett syndrome
- Sonia Guil, PhD
- Josep Carreras Leukaemia Research Institute

A CRISPR toolbox for curative strategies for Rett syndrome
- Julian Halmai, PhD
- University of California, Davis

Preclinical development of Rett syndrome ASO drugs
- Jeannie Lee, MD, PhD
- Massachusetts General Hospital

Targeting choroid plexus Otx2 as novel therapy in RTT
- Michela Fagiollni, PhD
- Boston Children's Hospital, Harvard Medical School

The interplay of the heat shock cascade and Rett syndrome
- Rocco Gogliotti, PhD
- Loyola University Chicago

Development of treatment responsive biomarker in RTT
- Jeffrey Neul, MD, PhD
- Vanderbilt University

Evaluation of AAV9-BDNF treatment in two mouse models of RTT
- Jean-Christophe Roux, PhD
- Aix Marseille University
Ensure Clinical Trial SuccessIRSF-Funded Research
IRSF-Funded Research

The diagnostic experience of male Rett Syndrome
- Tim Benke, MD, PhD
- University of Colorado Denver

Validation of GHQ
- Kathleen Motil, MD, PhD
- Baylor College of Medicine

Gait analysis in Rett
- Bernhard Suter, MD
- Baylor College of Medicine

An intensive anti scoliosis postural intervention, supported by an application for individuals with Rett syndrome
- Meir Lotan, PhD, MScPT
- Ariel University

Identification of biomarkers of IGF1’s related drugs in Rett syndrome
- Daniela Tropea, PhD
- Trinity College Dublin
Inside the Lab
Inside the Lab
Ever wonder what goes on inside the researcher’s laboratory? Meet the scientists on the front lines of Rett research as they share their insights and experiences.
Funding Opportunities for Rett Syndrome Research
IRSF funds trailblazing research in the search for new Rett treatments and someday a cure. Explore our funding opportunities or visit our Resource Library.