announces new 2015 Translational Research Awards

June 25, 2015

In the first half of 2015, Invests $1M in Translational Research adding to the Neuro-Habilitation Program and the new Read-Through Program for Rett Syndrome

Cincinnati, June 25 -- announces today that the Board of Trustees has awarded $1M to launch the Read-Through Program, further translational research in the area of Neuro-Habilitation, and fund clinical research.

The Read-Through Program was developed as a translational research program designed to target nonsense mutations in the Rett syndrome causative gene MECP2. Nonsense mutations in MECP2 are found in 35 percent of girls diagnosed with Rett syndrome. The call for proposals requested for potential pharmacological treatments that will bypass or read-through the MECP2 nonsense mutations so a full-length functional MeCP2 protein could be made. Today, we announce that an ANGEL (Advanced Neurotherapeutic Grant of Excellence) award goes to Jeffrey Neul, M.D., Ph.D. and his co-investigator Alysson Muotri, Ph.D., both at the University of California San Diego.

Two additional HeART (Help Accelerate RTT Therapeutics) grants were awarded to the Neuro-Habilitation Program, whose goal is to identify the best cognitive therapies, physical therapies, occupational therapies and speech therapies that will aid in establishing the networks critical for skill development in Rett syndrome. One grant was awarded to Susan Rose and co-investigator Aleksandra Djukic, M.D., Ph.D., at Albert Einstein College of Medicine at Yeshiva University, and the other grant was awarded to Jenny Downs, Ph.D., and co-investigators at the Telethon Kids Institute in Australia.

Steve Kaminsky, Ph.D., chief science officer of comments, "This first funding cycle for grants in 2015 is very exciting! The Read-Through Program is the start of a concerted effort to go after the nonsense mutations in Rett syndrome at the level of the DNA. If we can identify a class of compounds that efficiently 'reads' through the nonsense mutation on MECP2 we may be able to establish sufficient levels of the MeCP2 protein to function normally. The other grants funded are in our Neuro-Habilitation Program and are designed to improve the "best practices" for building better neural networks and may lead to better clinical outcome measures. These two programs are pushing toward a new horizon for pharmacologic treatments and best clinical practices to improve the quality of life for all of those suffering from Rett syndrome."

Today's new awards and the current call for proposals for basic discovery research, training fellowships, and translational research will move the mission of -- to advance research towards new treatments for Rett syndrome. By investing in basic, translational, and clinical research where the science is vetted through a rigorous process of peer-review by members of's Scientific Review Board, this full spectrum approach to research will move discoveries in fundamental research towards the clinic, with hope to improve the lives and treat those living with Rett syndrome.

New 2015 Awards

ANGEL Award -- Read-Through Program:HeART Awards - Neuro-Habilitation ProgramSupplemental Funding to Current ProjectsAbout, a 501(c)3 organization, is accelerating research for treatments and a cure for Rett syndrome. As the world's leading private funder of Rett research, we have funded more than $35 million in peer-reviewed research grants and programs to date. We empower families to make a difference. Visit to learn more, or call (800) 818-7388 (RETT).

About Rett syndrome (RTT)

Rett syndrome is a rare non-inherited genetic postnatal neurological disorder that occurs almost exclusively in girls and leads to lifelong impairments, affecting nearly every aspect of child's life: their ability to speak, walk, and eat is effected, seizures develop and scoliosis occurs, and many develop irregular breathing patterns. Those diagnosed with Rett syndrome require maximum assistance with basic daily activities. The hallmark sign of Rett syndrome is near constant repetitive hand movements. Cognitive assessment in children with Rett syndrome is complicated, but they understand far more than they can communicate to us, evidenced by their bright and attentive eyes, and their ability to express a wide spectrum of moods and emotions.

Steve Kaminsky

International Rett Syndrome Foundation

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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
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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).

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