Rettsyndrome.org's Current Research 

Rettsyndrome.org has, to date, invested over $46 million dollars in research. In 2019 we are investing in full spectrum research to support new ideas, translating ideas into intervents, clinical research, and neuro-habilitation research, which is developing effective outcomes and therapies for our children.  

 

2019 Research Grant Summaries

Basic Research Awards | Translational HeART Awards Scout Program Awards Neuro-Habilitation HeART Awards Mentored Fellowship Training Awards Clinical Research Awards

  

BDNF - human gene BDNF - human protein Bdnf - mouse gene Bdnf - mouse protein
MECP2 - human gene MeCP2 - human protein Mecp2 - mouse gene  

 

 

 


Basic Research Awards 

Rettsyndrome.org’s commitment to research that explores the biology of Rett syndrome so that we can understand what has gone wrong. 

To view the scientific abstract of the project, click on the title.


Jeannie T. Lee, MD, PhD.

Massachusetts General Hospital

ANGEL Grant, $600,000

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.

 

 

Alysson Muotri, PhD

University of California San Diego

Basic Research Award: $150,000

"The Impact of IL-6 on the interplay between neurons and astrocytes in Rett Syndrome"

Dr. Muotri will study the effectiveness of a drug called Actemra on brain cells. The study hopes to show that the drug will reduce the levels of Interleukin – 6 (IL-6), a protein made in brain cells called astrocytes, that is toxic to neurons at high levels in RTT. An effective anti-inflammatory IL-6 drug could be a potential treatment for Rett syndrome.  

 

 


 Erica Levitt, PhD  

University of Florida

Basic Research Award: $148,550

"Effect of Positive Allosteric modulation of Dopamine D2 Receptors on Respiration in Mouse models of Rett Syndrome"

Dr. Levitt will study a compound in mice that aims to make certain respiratory receptors more responsive to dopamine. Dopamine affects neurons that control breathing and therefore, can reduce apnea and breathing irregularities.

 

 


  Zhaolan (Joe) Zhou, PhD

University of Pennsylvania

Basic Research Award: $75,000

"Understanding the Molecular Etiology of Rett Syndrome" 

Dr. Zhou and colleagues will work to better understand precisely how MECP2 mutations lead to the neurologic symptoms seen in Rett syndrome. They will focus on the role of mosaicism (a mix of cells that express MECP2 differently) that occurs in every individual with Rett syndrome and how it affects symptoms. They hope the findings will lead to develop new RTT-specific therapies.  

 

 

 Translational HeART Awards
Rettsyndrome.org’s commitment to research focused 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

Scula Normale Superiore


Translational HeART Award: $148,550

 "Painless NGF: testing the rescue of Rett syndrome neuronal degeneration through its actions on microglia" 

Dr. Cattaneo will study whether Nerve Growth Factor (NGF), which has been proven to increase brain function and recently linked to RTT, could be a potential treatment of RTT through its anti-inflammatory effects. His team will use a variant of NGF they developed (hNGFp) in RTT mice to observe if RTT-like behaviors are minimized and brain function increases. .

  

 


Scout Program Awards

Rettsyndrome.org’s commitment to research that accelerates the testing of potential drugs for use in treating Rett syndrome.


Taleen Hanania, PhD - Psychogenics, Inc

 Scout Program Award: $300,000  

"Drug Discovery Screen in a Mouse Model of Rett Syndrome"

Dr. Hanania is doing research on potential drug candidate compounds.  These compounds are screened in a standardized battery of tests in the RTT mouse model.  This is a unique program that increases the pace of testing, allows for potential treatments to move more quickly into clinical trials, and create partnerships with pharmaceutical and biotech companies.

 

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. 


 Jenny Downs, PhD

The University of Western Australia

Neuro-Habilitation HeART Award: $125,926

"Implementing telehealth support to increase physical activity in girls and women with Rett syndrome"

Dr. Downs will develop an online resource that parents, caregivers, therapists, and clinicians can use to increase physical activity in individuals with Rett syndrome. She will develop a physical activity strategies manual and conduct a clinical trial to test the effectiveness of the strategies on decreasing sedentary time, increasing physical activity and increasing quality of life. The results will be used to develop the online resource.

 


 Meir Lotan, PhD

Ariel University

Neuro-Habilitation HeART Award: $109,175

 "Individualized home based remote rehabilitation programs for individuals with Rett syndrome and their families"

Dr. Lotan is studying the effectiveness of home programs to enhance functional abilities of girls with Rett syndrome. Participants with Rett syndrome will be individually evaluated, trained by caregivers, and supported through bi-weekly Skype talks. The study will take place in Italy.

 


 Mentored Training Fellowship Awards

Rettsyndrome.org’s commitment to building our bench of future researchers and clinicians focused on Rett syndrome. 


  Saad Hannan, PhD

University College London

Mentored Training Fellowship Award: $99,996

"Hyperactive GABAergic mutations and Rett syndrome"

Dr. Hannan will study mutations of a special brain protein called GABABR that have recently been linked to Rett syndrome in individuals that do not have a MECP2 mutation. GABABR play central roles in the brain and impact learning, memory, and movement. A better understanding of the defects in GABABR may provide alternative future treatments.

 


 Clinical Research Awards

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


   Davut Pehlivan, MD

Baylor College of Medicine

Mentored Clinical Fellowship: $250,000

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.

 

  Sarika Peters, PhD

Vanderbilt University Medical Center

Clinical Research Award: $50,000

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

Dr. Peters will study a state of the art, non-invasive wearable device that is worn at home and used to track important features of RTT (heart rate changes, frequency of hand movements and more). Using smartphone technology, her team will get caregiver ratings of a child’s real time symptoms. This comprehensive information can create a more accurate method of measuring clinical severity and change/progress that may prove valuable for the day-to-day management of individuals with RTT and related disorders.

 

  Carrie Buchanan, MD

Greenwood Genetic Center

Clinical Training Fellowship Award: $125,000

"Behavioral Disorders in Rett Syndrome"

Dr. Buchanan will refine clinical outcome measures using anxiety biomarkers, such as cortisol level, heart rate variability and inflammatory markers. These measures will supplement the Rett Syndrome Behavioral Assessment measures that are currently being used in many clinical trials. Dr. Buchanan’s goal is to improve diagnosis and treatment of anxious behaviors in RTT. She is training with Dr. Walter Kaufmann at Greenwood Genetic Center.

 

  Cary Fu, MD

Vanderbilt University Medical Center

Clinical Training Fellowship Award: $125,000

"Characterizing Biomarkers of Epileptogenesis in Rett Syndrome"

Dr. Fu is investigating seizures in Rett syndrome in a new way: by developing a predictive algorithm for RTT-related epilepsy. His group will use clinical data from the Natural History Study and use mouse models to determine characteristics that can predict seizures. Dr. Fu continues training with Dr. Jeffrey Neul at Vanderbilt University.

 

 

View our 2018 Funded Research