Lexington, MA (PRWEB) March 24, 2014
Today, the FSH Society, a Massachusetts based non-profit that is a world leader in combating facioscapulohumeral dystrophy (FSHD), announced that it has awarded six grants totaling more $609,525 to new research projects. Through these studies, the FSH Societys fellowship program aims to gain insights and achieve significant milestones into the research of FSHD, one of the most prevalent types of muscular dystrophy.
A degenerative muscle disease, FSHD causes progressive weakness, usually starting with the face, shoulder and arms, but can affect almost any skeletal muscle. FSHD affects approximately 500,000 people worldwide and between one and two percent of the population carries a genetic trait that places future generations at risk of the disease. Currently, there is no cure or effective treatment.
Research grants most recently awarded by the FSH Society include: 1.Investigating effects of PARP1 inhibitors in DUX4 expression ($89,267) Yi-Wen Chen, D.V.M., Ph.D. George Washington University and Childrens National Medical Center (Washington, D.C.) A mysterious protein called DUX4 is believed to cause FSHD. The findings of the study will provide insights of the involvement of PARP1, a promoter of the DUX4 gene, in FSHD, and will have a direct impact on developing therapeutics for FSHD.
2.Gene surgery using TALEN technology: a therapy for FSHD ($117,500) Julie Dumonceaux, Ph.D. Institut de Myologie, University of Paris, U974 (Inserm, Paris, France) The approach proposed in this study unlike other therapeutic strategies under investigation for FSHD does not require repeated long-term administration of treatment. The benefits of this as a clinical therapy include lower cost and reduced toxicological and immunological risk. Moreover, this approach would be useful for all FSHD cases, regardless of the precise mutation or contraction involved.
3.Protein chemistry and protein-protein interactions of DUX4 ($70,000) Jocelyn Eidahl, Ph.D. The Research Institute at Nationwide Childrens Hospital (Columbus, OH) DUX4 has been identified as potential cause for FSHD, but the mechanisms by which DUX4 contributes to FSHD pathologies is unclear. The studys hypothesis is that the DUX4 transcription factor is involved in protein-protein interactions that influence its ability to induce toxicity in muscle cells and ultimately contribute to FSHD. The study examines the functional significance of protein-protein interactions of DUX4 that are critical for DUX4 toxicity.
4.Exploiting genome editing technology to modify and regulate the FSHD disease locus ($125,000) Supported in part by a generous gift from the FSHD Canada Foundation. Michael Kyba, Ph.D. Lillehei Heart Institute, University of Minnesota (Minneapolis, MN) Recent discoveries of DNA-binding factors have opened up tremendous new possibilities in genome editing. Through the grant, this study will take advantage of and leverage an existing research program in genome editing of FSHD iPS cells, and will provide the field with valuable new tools to study the pathogenesis of FSHD, and to develop cell therapies based on corrected, isogenic, iPS cells.
5.Microdialysis for the study of inflammatory features in FSHD ($70,000) Giorgio Tasca, M.D. Institute of Neurology, Catholic University School of Medicine (Rome, Italy) The study will implement a technique that has never been applied to the study of skeletal muscle and provide a better understanding of the role of the inflammatory process in the disease, the identification of biomarkers of disease activity at single muscle level and the acquisition of information useful for the development of a targeted anti-inflammatory therapy. In the future, the new technique could be used for molecular monitoring and eventually drug administration in neuromuscular disorders.
6.Dynamic mapping of perturbed signaling underlying FSHD ($137,798) Peter S. Zammit, Ph.D. Kings College London (London, England) Results gained through the study will identify methods that could help restore muscle regeneration in FSHD, reversing muscle weakness and wasting. The researchs ultimate aim is to gain knowledge on FSHD myogenesis and inform the design of therapies for FSHD.
These new studies represent a crucial step in the ongoing development of FSHD treatments and cures, said Daniel Perez, President & CEO of the FSH Society. We are thrilled to award the grants to such innovative research endeavors, which bring us closer to finding more effective treatments and medical breakthroughs for FSHD.
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The FSH Society Issues Six Research Grants to Propel Understanding and Treatment of FSHD
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