Current Research

$49 million invested in research to date.

In 2019 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.

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

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 Grant $150,000

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

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

Steven G. Kaminsky Scout Program Awards is committed to research that accelerates the testing of potential drugs for use in treating Rett syndrome.

Taleen Hanania, PhD

Screening Compounds

Dr. Hanania is doing research on potential drug candidate compounds. 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.

Steven G. Kaminsky Scout Program Award: $300,000

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

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 Research Award: $148,550

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

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

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

Mentored Training Fellowship Awards is committed to building our bench of future researchers and clinicians focused on Rett syndrome.

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

Clinical Research Awards is commitment to clinical research focused on building a national clinical trials network while conducting clinical research and trials.

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.

Mentored Clinical Fellowship: $250,000

Sarika Peters, PhD

Wearable Devices

Dr. Peters will study a non-invasive wearable device that is worn at home and used to track important features of RTT.

Clinical Research Award: $50,000

Carrie Buchanan, MD

Clinical Outcome Measures

Dr. Buchanan will refine clinical outcome measures using anxiety biomarkers, such as cortisol level, heart rate variability and inflammatory markers. Dr. Buchanan’s goal is to improve diagnosis and treatment of anxious behaviors in RTT.

Clinical Training Fellowship Award: $125,000

Cary Fu, MD

Seizure Biomarkers

Dr. Fu is investigating seizures in Rett syndrome in a new way. His group will use clinical data from the Natural History Study and mouse models to determine characteristics that can predict seizures

Clinical Training Fellowship Award: $125,000

View Our Previously Funded Research

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