Rettsyndrome.org Invests $1M in Translational Research

For Immediate Release – June 25, 2015


Contact: Steven Kaminsky, PhD
skaminsky@rettsyndrome.org
Rettsyndrome.org

Rettsyndrome.org Announces New 2015 Translational Research Awards

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

(Cincinnati, OH)– Rettsyndrome.org 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% 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, MD, PhD and his co-investigator Alysson Muotri, PhD 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, MD, PhD at Albert Einstein College of Medicine at Yeshiva University, and the other grant was awarded to Jenny Downs, PhD and co-investigators at the Telethon Kids Institute in Australia.

Steve Kaminsky, PhD, Chief Science Officer of Rettsyndrome.org 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 Rettsyndrome.org - 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 Rettsyndrome.org’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 Rettsyndrome.org Awards

ANGEL Award – Read-Through Program

  • Jeffrey Neul, MD, PhD, University of California San Diego
    "UCSD Integrated Read-through Program for Rett Syndrome”

HeART Awards – Neuro-Habilitation Program

  • Jenny Downs, PhD, Telethon Kids Institute
    “An evaluation of environmental enrichment for young girls with Rett syndrome”
  • Susan Rose, PhD, Albert Einstein College of Medicine at Yeshiva University
    “Identification of Impairments in Attention Associated with Rett Syndrome”

Supplemental Funding to Current Projects

  • Walter Kaufmann, MD,  Children’s Hospital Boston
    "A Phase 2b placebo-controlled cross-over study of rh-IGF1 (mecasermin [DNA] injection) for treatment of Rett syndrome and development of Rett-specific novel biomarkers of cortical and autonomic function”

About Rettsyndrome.org

Rettsyndrome.org, 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 www.rettsyndrome.org 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.