Research becomes a reality for Rett syndrome through new funding

October 01, 2010

Cincinnati, (OH) - The International Rett Syndrome Foundation (IRSF) announced today that it will award an additional $1.5M in research grants, bringing the 2010 total to $2.15 million for innovative basic and translational research that moves treatments for Rett syndrome a step closer to the clinic. IRSF is the world's largest private source of Rett syndrome research funding and with the addition of these awards the Foundation has cumulatively provided $23 million for Rett syndrome research.

Rett syndrome is an Autism Spectrum Disorder (ASD), characterized by distinguishing symptoms which begin to manifest in early childhood resulting in seriously debilitating neurological impairments in those affected. October 4th 2010 will mark 11 years since the landmark discovery, made in the laboratory of Dr. Huda Y. Zoghbi, that a single gene, MECP2, is responsible for the majority of cases of Rett syndrome. Since that time the pace of research has been rapid, resulting in recent work demonstrating genetic reversibility of the disease in mice. This year, regular research grant awards will be provided to the following exceptional scientific programs to further advance our understanding of the underlying causes of Rett syndrome: Dr. Huda Zoghbi whose lab discovered the gene responsible for Rett syndrome commented on the caliber of this year's awardees saying, "I am thrilled to learn that Dr. Carla Shatz will examine visual system plasticity in a mouse model of Rett syndrome. It is important to test this hypothesis given the role of MHC Class I proteins in activity-dependent plasticity during critical developmental periods. Beyond testing this hypothesis, bringing Carla into the Rett field is a huge boost to the neurobiological studies on this disorder." Dr. Shatz was formerly President of the prestigious Society for Neuroscience. This award is made in honor of Grace Reddington.

IRSF also awarded several post-doctoral fellowship training awards that will provide support for outstanding young investigators for the following important scientific projects:Dr. Katheryn Elibri-Frame President of the newly launched International Foundation for CDKL5 Research (IFCR) commented on the partnership award to Dr. Amendola saying, "Our shared goals and research endeavors will benefit children affected by both CDKL5 and Rett syndrome and we are proud to partner with IRSF in co-funding this project. Finding a cure is our top priority and this is a critical step forward."

New Translational Research Awards Announced

In addition to the regular research awards, IRSF recently launched "Research to Reality" an aggressive fundraising campaign spearheaded by IRSF's HeART and ANGEL grant awards which provide funding for drug discovery, development and testing. The first HeART grant awards will provide seed funding for the following early stage drug discovery programs: Earlier this year, IRSF announced funding of the first ANGEL award totaling $446,000 to support a program testing new treatments for breathing dysfunction in Rett syndrome to David Katz PhD, Case Western Reserve University.

Dr. Antony Horton IRSF Chief Scientific Officer commented, "Together these new basic and translational research awards are beginning to fulfill the promise of our 'Research to Reality' campaign which seeks to move discoveries out of the lab and translate them into new medicines for Rett syndrome." Dr. Horton added "In addition to this announcement IRSF expects to fund further meritorious research in December of this year".
-end-
All grants recommended for funding have been subjected to a rigorous peer-review process and support IRSF's solid commitment to fund high-quality research programs.

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 $23M 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).

About the International Foundation for CDKL5 Research

The International Foundation for CDKL5 Research (IFCR) was incorporated as a non-profit entity in September of 2009. The idea culminated from a group of dedicated parents of CDKL5 children, who dared to dream of something life changing for their children - a cure. The parents realized there was a desperate need for education and research, and this could not be completed without funding. They decided to combine their talents and resources to establish a non-profit foundation to help meet these financial needs. IFCR is committed to collaborating with leading scientists and researchers from around the world who are dedicated to finding a cure for CDKL5.

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.