Rettsyndrome.org Invests over $3.1 M in 2014

For Immediate Release – December 23, 2014


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

Rettsyndrome.org Announces 2014 Research Grants, Investing over $3.1M to Accelerate Research for Rett Syndrome

Over $35M cumulative research dollars have been awarded in a quest to accelerate treatments

(Cincinnati, OH) The International Rett Syndrome Foundation – now doing business as Rettsyndrome.org – announces today that twelve (12) new grants were added to their research portfolio for a $1.2M investment, bringing the total 2014 research spend over $3.1M.  Rettsyndrome.org is the leading private funder of Rett research, with more than $35million invested to date.

Rettsyndrome.org’s strategy is to accelerate research toward new treatments for Rett syndrome by investing in basic, translational, and clinical research grants, which are vetted through a rigorous process of peer review by members of Rettsyndrome.org’s Scientific Review Board (SRB). Those applications that have the highest scientific and programmatic merit are recommended to the Board of Directors for final funding decisions

Two of the grants are funded by the Translational Research Program which funds early and late stage translational research to treat and reverse Rett syndrome (RTT).

Rettsyndrome.org welcomes five new fellows to the Mentored Training Fellowship Program, which funds talented young post-doctoral researchers and aims to help them establish careers in Rett research.

Lastly, five grants from the Basic Research Program will fund investigators working to make new discoveries that will lead to a better understanding of the pathology of Rett syndrome and new avenues to treat the disorder.

With these new 2014 projects, Rettsyndrome.org continues to cover the spectrum of Rett syndrome research, in hopes of accelerating research from basic discovery, where ideas are made, to translating them into medicines for future clinical testing and treatments. These research grants are not restricted by geographic boundaries, and two new awards were given to researchers from Italy and the United Kingdom.

Rettsyndrome.org also announces that they will partner with the International Foundation for CDKL5 Research (IFCR) once again, to cost-share one of the newly awarded fellowships. With this continuing collaboration, both organizations can “share in funding this common endeavor that may have important implications for both CDKL5 and MECP2.” said Katheryn Elibri Frame, DO, President and Co-founder of IFCR.

Rettsyndrome.org’s Chief Science Officer, Steve Kaminsky, PhD, comments on the research strategy: "This year we had a great response to our Call for Proposals, and through the peer review process and programmatic planning, we have identified 12 research projects that will develop new ideas we hope to be translated to medicines. With the completion of two clinical trials and several others still underway, these are truly exciting times for the Rett community. These 12 new research projects add to our research investments, and we are hopeful that they build upon our portfolio and research strategy. We appreciate all of your support and look forward to this research adding to the growing knowledge base that will aid in correcting Rett biology."

New Fall 2014 Rettsyndrome.org Awards

HeART

  • Alexander Kabanov, PhD, University of North Carolina at Chapel Hill
    "Brain Delivery of BDNF via novel Nano-formulation for Treatment of Rett Syndrome"
  • Frank Menniti, PhD, Mnemosyne Pharmaceuticals, Inc.
    "Effects of NMDA receptor modulators on network activity in a human iPSC-derived model of cortical dysfunction in Rett Syndrome

HeART Awards – Scout Program

  • Lucas Pozzo-Miller, PhD, The University of Alabama at Birmingham
    "Analogs of (1-3)IGF-1 (glypromate) for the improvement of hippocampal dysfunction in femaleMecp2 heterozygous mice: a preclinical trial for Rett syndrome"

Mentored Training Fellowships

  • Breanne Byiers, PhD, University of Minnesota
    "Assessing oculomotor function in Rett syndrome using integrated EEG and eye tracking technology"
  • Claudia Fuchs, PhD, University of Bologna, Italy *
    "Drug Therapy Targeted to Core Molecules in Neural Plasticity Cascades: A Promising Tool for the CDKL5 Variant of Rett Syndrome"
  • Janine Lamonica, PhD, University of Pennsylvania
    "Targeting Protein Degradation Pathways to Treat RTT"
  • William Renthal, MD, PhD, Harvard Medical School
    "Characterization of a Novel Activity-Dependent Phosphorylation Site on MECP2"
  • Xin Xu, PhD, The University of Alabama at Birmingham
    "Molecular Mechanisms of Homeostatic Synaptic Plasticity in Mecp2 KO Neurons"

* Cost shared between Rettsyndrome.org and IFCR

Basic Research Grants

  • Michael Brenowitz, PhD, Albert Einstein College of Medicine
    "A biophysical basis for cellular and developmental regulation by MeCP2"
  • Darren Goffin, PhD, University of York
    "Sensory Neural Network Alterations in Rett Syndrome"
  • Peng Jin, PhD, Emory University
    "Consequences of altered DNA Methylation/hydroxymethylation caused by the loss of MeCP2 in neurons"
  • Jonathan Kipnis, PhD, University of Virginia
    "Immune pathology and bone marrow transplantation in disorders of MeCP2 overexpression"
  • Lucas Pozzo-Miller, PhD, The University of Alabama at Birmingham
    "Inhibitory interneuron dysfunction in network activity in female Mecp2 mice"

Supplemental Funding to Current Projects

  • Daniela Brunner, PhD, PyschoGenics, Inc
    "Scout Program: A Drug Discovery Screen in a Mouse Model of Rett Syndrome"
  • Walter Kaufmann, MD, Boston Children’s Hospital
    "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"

For the complete list of 2014 awards, please visit www.rettsyndrome.org.

About Rettsyndrome.org

Rettsyndrome.org 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 are a 501(c) 3 organization, earning Charity Navigator’s most prestigious 4-star rating. 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.