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MDF Awards $200,000 For Research Into Treatments For Myotonic Dystrophy

MENLO PARK, Calif., Feb. 7, 2013 /PRNewswire-USNewswire/ -- The Myotonic Dystrophy Foundation (MDF) has awarded two $100,000 grants to postdoctoral Fellows working in universities to encourage basic research in the management, treatment and cure of myotonic dystrophy (DM). Each of the 2013-2014 recipients will receive $50,000 a year for two years.


This award cycle brings MDF's total research funding to over $1.5M and builds on the Foundation's commitment to increasing the number of investigators focused on DM research. To date, MDF Fellows have gone on to attract additional research funding from organizations such as the NIH, have helped influence interest in DM research at major pharmaceutical companies, and have risen to senior positions at academic and clinical settings across the US since the program was founded in 2009.

The 2013-2014 awardees are:
  • Dr. Ayal Hendel, Ph.D., Stanford School of Medicine
  • Dr. Suzanne Rzuczek, Ph.D., The Scripps Research InstituteFlorida

Dr. Ayal Hendel, Ph.D.

CTG/CAG repeat tracts represent the genetic basis for Myotonic Dystrophy type 1 (DM1). DM1 etiology is caused by the expansion of CTG/CAG repeats. Expanded CTG/CAG repeats have been shown to be prone to double-strand breaks (DSBs), and the repair of the DSBs leads mainly to repeat contractions. Dr. Hendel's research will examine the contribution of DSB repair to the stimulation of repeat contractions in DM1 cells, exploring new cellular and molecular DM1 pathological mechanisms involved in DM.

Dr. Suzanne Rzuczek, Ph.D.

Dr. Rzuzcek will use small molecules to disrupt the interaction between repeating CUG RNA and MBNL1 (muscleblind-like 1 protein), freeing it to function normally. The Disney Lab, of which Dr. Rzuczek is a member, has designed and synthesized several compounds that specifically bind the expanded CUG RNA and disrupt the interaction with MBNL1 in vitro. These compounds contain CUG-binding small molecules tethered together by a spacer. Recently the spacer has been optimized to increase bioactivity and cell uptake. Compounds that are active in cells will be modularly assembled on the Disney-optimized spacer to enhance the interaction with DM1 RNA and improve bioactivity. If successful, these compounds could become a DM treatment.

About Myotonic Dystrophy: Described as "the most variable of all diseases found in medicine", myotonic dystrophy is an inherited disorder that can appear at any age and that manifests differently in each individual. The most common form of muscular dystrophy, DM affects somewhere between 1:3,000 and 1:8,000 people worldwide, and can cause muscle weakness, atrophy and myotonia, as well as problems in the heart, brain, GI tract, endocrine, skeletal and respiratory systems.

About the Myotonic Dystrophy Foundation: The Myotonic Dystrophy Foundation (MDF) is the world's largest DM patient organization.  Its mission is to enhance the lives of people living with myotonic dystrophy, and advance research efforts focused on finding treatment and a cure for this disorder through education, advocacy and outreach.

Contact: Molly WhiteMyotonic Dystrophy FoundationPhone: 866-968-6642E-mail:

SOURCE Myotonic Dystrophy Foundation

Copyright 2011 PR Newswire. All rights reserved. This material may not be published, broadcast, rewritten or redistributed.

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