IRSF awards over $650,000 for Translational Rett Syndrome research

August 18, 2011

Cincinnati, (OH) - The International Rett Syndrome Foundation (IRSF) announced today that it is awarding over $650,000 to support eight cutting-edge projects that aim to accelerate translational research to develop treatments for Rett syndrome. IRSF is the world's largest private source of funding for biomedical and clinical Rett syndrome research. Since 1998, IRSF has cumulatively funded over $24M in high quality, peer-reviewed basic and translational research grants that have significantly advanced Rett syndrome research towards finding a cure.

IRSF's Translational Research grant program includes two types of awards, which are the Help Accelerate Rett Therapeutics (HeART) and the Advanced Neurotherapeutic Grant of Excellence (ANGEL) awards. The funding from these grant awards will provide for early and late stage translational research to treat and reverse Rett syndrome (RTT).

The awarded projects from the first round of applications to the Translational Research grant program are geared towards drug discovery and development efforts as well as preparing for later stages of translational research. These funded projects fall into four main categories: (1) the development and testing of potential therapeutic compounds in animal models of Rett syndrome, (2) the development of outcome measures in humans that will be used in future clinical studies, (3) the development of a method for treatment, and (4) the development of a stem cell-based experimental system to be used in high-throughput drug screens. Together, they are in alignment with the objectives of IRSF's Translational Research grant program.

Stephen Bajardi, the executive director of IRSF, commented, "IRSF is pleased with the quality of these research projects and the significant steps they represent in moving Rett syndrome translational research forward."

New Translational Research Awards


John M. Bissonnette, MD, Oregon Health Sciences University
Serotonin and small molecule treatment of respiratory disorders in a mouse model of Rett syndrome

Qiang Chang, PhD, of University of Wisconsin-Madison
Establishing Neurons Differentiated from an Isogenic Pair of Rett Syndrome iPSC lines as Cell-Based Assay for Future Drug Screens

Jenny Downs, PhD, Curtin University
Daily physical activity in girls and women with Rett syndrome: An important outcome for clinical trials

Steven J. Gray, PhD, University of North Carolina at Chapel Hill
Development of Optimized AAV Vectors for Intra-CSF Administration in Rett mice

Walter Kaufmann, MD, Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Development of a Behavioral Outcome Measure for Rett Syndrome

Lucas Pozzo-Miller, PhD, University of Alabama-Birmingham
IGF-1 and TrkB Agonists as BDNF Mimetics for the Reversal of Dendritic Spine Pathologies and Network Hyperexcitability in the Hippocampus of MeCP2 Mutant Mice

Jay R. Shapiro, MD, Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Treatment of Osteoporosis in Murine Rett Syndrome Models: A Comparison of Zoledronic Acid vs. Teriparatide on Osteoblast Function, Gene Expression and Bone Mass

Huda Y. Zoghbi, MD, Baylor College of Medicine
Therapeutic intervention to modulate the GABAergic and cholinergic systems in animal models of Rett syndrome
-end-
About Rett Syndrome

Rett syndrome (RTT), a developmental neurological disorder, occurs almost exclusively in females. RTT results in severe movement and communication problems following apparently normal development for the first six to 18 months of life. Characteristic features of the disease include loss of speech and purposeful hand use, repetitive hand movements, abnormal walking, abnormal breathing, slowing in the rate of head growth and increased risk of seizures. Current treatment for girls with RTT includes physical and occupational therapy, speech therapy, and medication for seizures. There is no known cure for RTT. In 2007, researchers heralded a major breakthrough by reversing RTT symptoms in mouse models. RTT is considered a "Rosetta Stone" that is helping scientists understand multiple developmental neurological disorders, and shares genetic links with other conditions such as autism and schizophrenia.

About the International Rett Syndrome Foundation.

IRSF is the world's leading private funder of basic, translational and clinical Rett syndrome research, funding over $24M in high-quality, peer-reviewed research grants and programs to date. Annually, IRSF hosts the world's largest gathering of global Rett researchers and clinicians to establish research direction and priorities while exchanging ideas and the most recent information. IRSF is the most comprehensive non-profit organization dedicated to providing thorough and accurate information about Rett syndrome, offering informational and emotional family support, and stimulating research aimed at accelerating treatments and a cure for Rett syndrome and related disorders. IRSF has earned Charity Navigator's most prestigious 4 star rating. To learn more about IRSF and Rett syndrome, visit www.rettsyndrome.org or call IRSF at 1-800-818-RETT (7388).

International Rett Syndrome Foundation

Related Rett Syndrome Articles from Brightsurf:

Proteins -- and labs -- coming together to prevent Rett syndrome
Two labs investigated whether the disruption of one protein's condensate-forming ability contributes to Rett syndrome.

Genetic editing milestone in mouse model of Rett Syndrome
A genomic error that causes Rett Syndrome, a serious lifelong neurological disorder, can be corrected in the brains of mice by rewriting the genetic instructions carried by the RNA.

Yale researchers find potential treatment for Rett Syndrome
An experimental cancer drug can extend the life of mice with Rett Syndrome, a devastating genetic disorder that afflicts about one of every 10,000 to 15,000 girls within 6 to 18 months after birth, Yale researchers report June 10 in the journal Molecular Cell.

Research team investigates abnormal neuron activity in Rett syndrome
Research by Billy Lau, a postdoctoral researcher working with Assistant Professor Keerthi Krishnan at the University of Tennessee, Knoxville, examines the time during which an adult female mouse first learns to recognize and respond to the distress cries of young mouse pups as an opportunity for the brain to rewire and learn again.

A dietary supplement improves skills of an atypical Rett syndrome patient
Administration of the amino acid L-serine, a dietary supplement, contributes to the improvement of the communicative and motor skills of a patient with a mutation that alters glutamate receptors.

A new drug shows preclinical efficacy in Rett syndrome
A new article published in the Cell Reports describes how a new drug is able to reduce the symptoms and activate the dormant neurons characteristic of Rett Syndrome in preclinical models.

X chromosome reactivation could treat Rett syndrome, other X-linked disorders
A study from a team of Massachusetts General Hospital investigators points toward a potential strategy for treating X-linked disorders -- those caused by mutations in the X chromosome -- in females.

Discovery fuels hope for Rett syndrome treatment
Vanderbilt University researchers have relieved symptoms of Rett syndrome in a mouse model with a small molecule that works like the dimmer switch in an electrical circuit.

Drug improves brain performance in Rett syndrome mice
A brain penetrant drug -- a small-molecule mimetic of BDNF, or brain derived neurotrophic factor -- is able to improve brain performance in Rett syndrome mice -- specifically synaptic plasticity in the hippocampus and object location memory.

Small-molecule therapeutic boosts spatial memory and motor function in Rett syndrome mice
Rett syndrome is a neurological disorder affecting learning and development, caused by a mutation in the MECP2 gene triggering decreased levels of brain-derived neurotrophic factor (BDNF).

Read More: Rett Syndrome News and Rett Syndrome Current Events
Brightsurf.com is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to Amazon.com.