Active Research Grants

$50 million invested in research to date.

In 2020 we have invested in international research to support new ideas that unlock the mysteries of Rett syndrome, translate those ideas into interventions, moving interventions into clinical research, and developing effective outcomes and therapies for our children.

Basic Research Awards

Basic research fuels innovative and new ideas to understand what has gone wrong and fix the biology of Rett syndrome.

Taleen Hanania, PhD
Kerry Delaney, PhD

Brain cell communication in a mouse model of Rett syndrome

The brain cells of females with Rett syndrome are of mixed MeCP2 protein status (e.g. some cells have normal MeCP2 while others have a mutant MeCP2 that causes Rett syndrome). This research will tease apart how this mixed MeCP2 status impacts communication among brain cells. Read more.

Basic Research Grant, $149,908


Taleen Hanania, PhD
Hilde Van Esch, MD, PhD

Brain development in a humanized mouse model of Rett syndrome and Rett-related disorders

The Van Esch lab will use a humanized mouse model to study how the dosage of the MeCP2 protein, which is too low in Rett syndrome and too high in MECP2 Duplication Syndrome (MDS), contributes to brain development in ways that may be specific to humans. Read more.

Basic Research Award: $145,000


Taleen Hanania, PhD
Ferdinando Fiumara, MD, PhD

Pathophysiological structure, interactomics, and function of the N-terminus of MeCP2-E1 and its disease-related mutations

Rett syndrome is caused by mutations in the MeCP2 protein, some of which are present in a part of the protein called the N-terminus. This research will determine if and how these mutations alter MeCP2 protein shape and interactions with other proteins. Read more.

Basic Research Award: $150,000


Saad Hannan, PhD
Saad Hannan, PhD

Non-MECP2 Mutation Study

Dr. Hannan will study mutations of a brain protein called GABABR that have recently been linked to Rett syndrome in individuals that do not have a MECP2 mutation.
Mentored Training Fellowship Award: $99,996


Kevin Jones, PhD
Kevin Jones, PhD

Testing potential regulators of BDNF expression to identify candidate Rett syndrome therapeutics

Read more.

Basic Research Award: $150,000


Erica Levitt, PhD
Erica Levitt, PhD

Enhancing Respiratory Receptors

Dr. Levitt will study a compound in mice that aims to make certain respiratory receptors more responsive to dopamine, which controls breathing.
Basic Research Award: $148,550


Jessica MacDonald, PhD
Jessica MacDonald, PhD

Restoration of Homeostasis of downstream targets of MeCP2 as a potential therapeutic of Rett Syndrome

Basic Research Award: $149,929


Kathleen Motil, MD, PhD
Kathleen Motil, MD, PhD

Characterization of the Gut Microbiome and Metabolome in Rett Syndrome

Basic Research Award:$149,995


Alysson Muotri, PhD
Alysson Muotri, PhD

Exploring the role of astrocytes

Dr. Muotri will study the effectiveness of a drug called Actemra in reducing levels of Interleukin–6 (IL-6), a protein that negatively impacts neurons at high levels in RTT.

Basic Research Award: $150,000


Jean-Christophe Roux, PhD
Jean-Christophe Roux, PhD

Evaluation of AAV9-BDNF treatment in two mouse models of RTT

Read more.
Basic Research Award: $143,000


Taleen Hanania, PhD
Lotje De Witte, MD, PhD

Investigation of microglia, an immune cell, in Rett syndrome

Microglia, a type of immune cell present in the brain, are affected by Rett syndrome and may provide a novel treatment target in mouse models. This research project will determine whether human microglia do the same. Read more.

Basic Research Grant, 149,996


Zhaolan (Joe) Zhou, PhD
Zhaolan (Joe) Zhou, PhD

Understanding Rett Syndrome

Dr. Zhou will work to better understand precisely how MECP2 mutations lead to the neurologic symptoms seen in Rett syndrome.
Basic Research Award: $75,000


GENE-TARGETED THERAPIES

Rettsyndrome.org is committed to research that targets the root cause of Rett syndrome.

Kyle Fink, PhD
Kyle Fink, PhD

Programmable transcription of MeCP2 in patient iPSC-derived neurons using CRISPR/dCas9 as a putative therapeutic for Rett Syndrome

Read more.
ANGEL Grant: $150,000


Jeannie Lee, MD, PhD
Jeannie Lee, MD, PhD

Reactivating the silent MECP2 allele through a synergistic drug mechanism

In nearly all girls with Rett syndrome, there is a normal copy of the MECP2 gene that is inactive or “silent”. Dr. Lee will use a new drug to re-activate the silent X chromosome in a the female MECP2 mouse model developed in her previous project. She has demonstrated that even a small level of reactivation improves RTT symptoms.

ANGEL Grant: $600,000


Jeffrey Neul, PhD
Jeffrey Neul, PhD

Integrated Read-through Program for Rett Syndrome

ANGEL Grant: $282,262


Lucas Pozzo-Miller, PhD
Lucas Pozzo-Miller, PhD

Exploring Nonsense Suppression as a Treatment for Rett Syndrome

Read more.
ANGEL Grant: $150,000


Lilach Sheiner, PhD
Lilach Sheiner, PhD

Transgenic T. gondii as a platform for MeCP2 protein delivery to the CNS

ANGEL Grant: $150,000


Sarah Sinnett, MD
Sarah Sinnett, MD

Can non-invasive interventions synergistically enhance the efficacy of MECP2 gene therapy?

Read more.

Mentored Training Fellowship: $99,998


Taleen Hanania, PhD
Thorsten Stafforst, PhD

Harnessing RNA editing to treat Rett syndrome

Dr. Stafforst’s lab has developed a new way of performing gene-modifying therapy that utilizes RNA editing, a process that modifies the specific RNA intermediate made from a gene before it is used to make a functional protein product. This research will determine if the lab’s RNA editing technology can treat Rett syndrome. Read more.

Basic Research Award: $149,600


Taleen Hanania, PhD
Crystal Zhao, PhD

Novel method for reactivation of the silent X-chromosome to restore MECP2 expression

Reactivating the silent X-chromosome may provide females with Rett syndrome the normal MeCP2 protein their cells need for proper functioning. This research will explore a novel method of X-chromosome reactivation identified by Dr. Zhao’s lab. Read more.

Basic Research Award: $150,000


Translational HeART Awards

Translational research focuses on developing treatments that change the biology of Rett syndrome. HeART (Help Accelerate Rett Therapeutics) grants provide funding for early stage drug discovery and development efforts.

Antonino Cattaneo, PhD
Antonino Cattaneo, PhD

Nerve Growth Factor

Dr. Cattaneo will use a variant of NGF called hNGFp in mice to see if RTT-like behaviors can be minimized and brain function increased.

Translational HeART Award:$148,550


Qiang Chang, MD
Qiang Chang, MD

In Vitro and In Vivo Validation of Candidate Drugs to Treat Rett Syndrome

Read more.

Translational HeART Award: $150,000


Meir Lotan, PhD
Louis Dickson, PhD

Investigating a novel treatment for Rett syndrome targeting the mGluR7

Dr. Dickson is testing a compound that specifically targets mGluR7, a regulator of brain cell communication that was recently linked to Rett syndrome. This research will test if this therapeutic can treat Rett syndrome in a mouse model. Read more.

Translational Research Award: $150,000


Meir Lotan, PhD
Nicoletta Landsberger, PhD

Cellular and Molecular Drug Screening

The first step toward Rett syndrome clinical trials (testing a new drug in animal models) is time-consuming and expensive. The goal of this research is to develop a means of doing this testing in cells in culture instead to reduce the time and cost of this step. Read more.

Translational Research Award: $148,390


Daniela Tropea, PhD
Daniela Tropea, PhD

Identification of Biomarkers of IGF1’s related drugs in Rett Syndrome

Read more.

Translational Research Award: $108,350


Steven G. Kaminsky Scout Program Awards

Rettsyndrome.org is committed to research that accelerates the testing of potential drugs for use in treating Rett syndrome.

Taleen Hanania, PhD
Pyscogenics

Drug Discovery Screen in a Mouse Model of Rett Syndrome Description

This is a unique program that increases the pace of testing, allows for potential treatments to move more quickly into clinical trials, and creates partnerships with pharmaceutical and biotech companies. Read More.  Life to Date Total: $2,344,483

Scout Program Award: $300,000


Clinical Research Awards

Rettsyndrome.org is commitment to clinical research focused on building a national clinical trials network while conducting clinical research and trials.

Carrie Buchanan, PhD
Carrie Buchanan, PhD

Behavioral Disorders in Rett Syndrome

Read more.

Mentored Training Fellowship: $125,000


Michela Fagiolini, PhD
Michela Fagiolini, PhD

Two-photon imaging of excitatory/inhibitory cortical activity in mosaic Mecp2 female animal model

Read more.

Research Contract Award: $150,000


Walter Kaufmann, MD
Walter Kaufmann, MD

RSBQ Characterization: Normative Reference Values and Factor Structure in Children and Adults

Research Contract Award: $149,888


Eric Marsh, PhD
Eric Marsh, PhD

Wearable Sensors for Multifunctional Assessment in Rett Syndrome

Read more.
Natural History Study Pilot Project: $57,246


Davut Pehlivan, MD
Davut Pehlivan, MD

Clinical characterization of MECP2 Duplication Syndrome and validation of a biomarker to prepare for therapeutic intervention

Boys with MECP2 Duplication Syndrome (MDS) experience severe developmental delays and often a shortened lifespan. Dr. Pehlivan will work with Dr. Hoda Zogbhi and Dr. Daniel Glaze to develop tools to aid in MDS diagnosis, gauge disease severity and progression, and evaluate treatments. Dr. Pehlivan also aims to develop an MDS biomarker that could be used to evaluate treatment in clinical trials.
Research Contract Award: $250,000


Sarika Peters, MD, PhD
Sarika Peters, MD, PhD

Using wearable devices and ecological momentary assessment to define clinical severity in RTT

Natural History Study Pilot Project: $50,000


Neuro-Habilitation HeART Awards

Rettsyndrome.org’s commitment to research that discovers ways to habilitate or re-train the brain through cognitive, speech, occupational and physical therapies.

Pamela Diener, PhD MS OTL
Pamela Diener, PhD MS OTL

Improving Upper Extremity Motor Skills in Children with RTT Using Selected Movements to Control Internet Virtual Reality Computer Games

Read more
Neuro-Habilitation HeART Award: $150,000


Jenny Downs, PhD
Jenny Downs, PhD

Telehealth Support

Dr. Downs will develop an online resource that parents, caregivers, therapists, and clinicians can use to increase physical activity in individuals with Rett syndrome.
Neuro-Habilitation HeART Award: $125,926


Meir Lotan, PhD
Meir Lotan, PhD

A physical therapy-based scoliosis intervention program for patients with Rett syndrome

Dr. Lotan has successfully halted or reversed scoliosis in a few patients with Rett syndrome using a physical therapy-based intervention program built alongside patients and their families. This study will scientifically test the effectiveness of such a program and develop a phone app that facilitates its use. Read more.

Neuro-Habilitation HeART Award: $149,643


Meir Lotan, PhD
Meir Lotan, PhD

Remote Rehabilitation Program

Dr. Lotan is studying the effectiveness of home-based programs to enhance functional abilities of girls with Rett syndrome.
Neuro-Habilitation HeART Award:$109,175


Susan Rose, MD
Susan Rose, MD

Cognitive Outcome Measures for Rett Syndrome: Assessment of Reliability and Stability

Read more.
Neuro-Habilitation HeART Award: $149,912


Database

Jeffrey Krischer, PhD
Jeffrey Krischer, PhD

Rett Consortium Database Administration

Award Grant: $61,500


View Our Previously Funded Research