Boston, MA (PRWEB) April 28, 2015
The FSH Society, the Massachusetts-based charity that has transformed the science of the little-known and incurable disease, facioscapulohumeral muscular dystrophy (FSHD), announced that it has awarded $ 485,840 in grants to new projects in the first half of 2015. FSHD affects over 870,000 adults and children around the world.
The FSH Society’s Scientific Advisory Board reviewed an array of proposals for the grants. They awarded monies to projects that include deep dives into how the genetics of FSHD affects the early development of muscle cells and into the lingering and all-important mystery of why muscle weakens in FSHD. Other studies will explore novel genetic and biochemical pathways that may be involved in FSHD.
With these awards, the Society continues to significantly expand funding for FSHD. In 2014, the Society funded a total of $ 819,261, a 24 percent increase over total funding in 2013.
“This year, the Society has set a goal of increasing our research funding to $ 920,000, a goal we hope to attain through the steadfast support of our members, fundraising event organizers and benefactors,” said Daniel Perez, Founder and President of the FSH Society. “We all owe them a tremendous debt of gratitude for their hard work and generosity.”
The FSH Society is accepting proposals for its next cycle of grants, with a deadline of August 31, 2015.
“Detailed transcriptional analysis of stage-specific early FSHD myogenesis,” by Gabsang Lee, PhD, DVM, Johns Hopkins University School of Medicine, Baltimore, Maryland ($ 70,977 for one year): In this new project, the Lee lab proposes to isolate pluripotent cells (cells able to develop into many other types of cells), somite cells (a populations of precursor cells) and myoblast cells derived from induced pluripotent stem cells developed from FSHD patients, followed by detailed analysis of how the genetic code is transcribed. The proposed studies will shed light on FSHD pathogenesis stage by stage during very early development of human muscles.
“Development of a new methylation assay for FSHD diagnosis,” by Giancarlo Deidda, PhD, Institute of Cell Biology and Neurobiology, Rome, Italy ($ 56,000 for eighteen months): In this project, the investigators propose to develop additional assays to quantify the number of permissive alleles in order to assess whether different allelic combinations are relevant in the identification of diagnostic threshold; to analyze a large cohort of well genotyped FSHD patients and normal controls for precise evaluation of methylation threshold between affected and unaffected subjects; to assess specificity of this assay for FSHD disease by testing individuals with unrelated muscular dystrophies; to analyze the prognostic potential of this assay by correlating methylation levels with different clinical severity scores; to study possible methylation differences distal to the D4Z4 array, between subjects’ white blood cells and muscle biopsies.
“Physiological Studies of Muscle Weakness in FSHD,” by Jun Udaka, MD, PhD, and Charles Emerson, PhD, University of Massachusetts Medical School, Worcester ($ 212,060 for two years): This FSH Society fellowship award will support comprehensive and detailed physiological investigations of force generation and calcium signaling in skinned and permeabilized single fiber preparations of FSHD and unaffected control muscle biopsies. Findings wiII identify muscle proteins and contractile processes that become dysfunctional during FSHD disease progression and reveal the underlying pathophysiology of FSHD muscle weakness to enable the development and evaluation of FSHD therapeutics in pre-clinical and clinical studies.
“Identification of the underlying genetic defect in a family with FSHD-like and optic atrophy phenotype,” by Lionel Van Maldergem, MD, PhD, Université de Franche-Comté, Besançon, France, and Björn Fischer-Zirnsak, PhD, Charité-Universitaetsmedizin Berlin, Germany ($ 8,000 for one year): This study will center on individuals from a family who suffer from a disease which combines features known for FSHD and optic nerve atrophy. The study seeks to identify the causative mutation. Researchers then plan to perform functional investigations in in vitro and in vivo models. They are experienced in cells culture-driven investigations of genetic disease and also in the generation of mouse models using for example CRISPR/Cas.
“Deciphering the contribution of FAT1-dependent phenotypes to FSHD symptoms and relevance for therapeutic design,” by Françoise Helmbacher, PhD, IBDM, CNRS UMR 7288, Marseille, France ($ 138,803 for two years): Using CRISPR/Cas9 technology in embryonic stem cells, this project will generate two mouse models carrying alterations in the FAT1 gene found in FSHD-like patients. The investigators will select mutations that altered FAT1 splicing, as these could be corrected with antisense oligonucleotides (AON). The project will then evaluate the relative frequency of any genetic alteration occurring in the FAT1 locus among classical FSHD1 patients to determine whether alteration of FAT1 expression occurs as a result of DUX4 expression, or synergizes with DUX4 expression to cause FSHD symptoms. Results of this project will help clarify to what perturbations of FAT1 functions contribute to the appearance of FSHD symptoms, and will be instrumental to developing novel therapeutic strategies for FSHD patients.
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About the FSH Society
The FSH Society, founded in 1991 by two FSHD patients, is a world leader in combating muscular dystrophy. The non-profit has provided millions of dollars in seed grants to pioneering research worldwide, creating an international collaborative network of patients and researchers. The FSH Society seeks to serve as a source of information and support for all patients and families with FSHD; act as a driving force in the development of research directed towards treatments and ultimately a cure; and bring support to patients and research for FSHD through effective engagement of governmental and private sector organizations and entities. For six consecutive years, the Society has received the Charity Navigator’s four-star rating, the highest distinction held by less than four percent of non-profit organizations in the country. The FSH Society offers a community of support, news and information for FSHD patients and families through its website at http://www.fshsociety.org. For more information about FSHD, please contact the Society at 781-301-6649.