'News from Friends of FSH Research'

'News from Friends of FSH Research'
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$6.3 Million Dollar Grant for FSH Research

Friends of FSH Research, based in Kirkland, WA. is thrilled to announce that a $6.3 million, 5-year National Institutes of Health (N.I.H.) grant for FSH research has been awarded to the Seattle-based research consortium headed by Dr. Stephen Tapscott. This is one of the largest grants ever to be awarded for Facioscapulohumeral Muscular Dystrophy research.

The grant from the Neurological Disorders and Stroke division of the N.I.H. will fund this 5-year research project entitled "The Pathogenesis of FSHD." This grant will support the work of several researchers, in various laboratories around the world. The overall project is under the administration of Dr. Tapscott at the Fred Hutchinson Research Center in Seattle, Washington.

The NIH project funding, which began on April 15, will support four different projects in the collaborating laboratories.

Project 1: The genetic and epigenetic basis for FSHD, Silvere van der Maarel, Leiden University Medical Center, Leiden, The Netherlands

Project 2: RNA regulation in FSHD, Stephen Tapscott, Fred Hutchinson Cancer Research Center, Seattle, WA

Project 3: The role of CTCF in chromatin and nuclear organization at the FSHD locus, Galina Filippova, Fred Hutchinson Cancer Research Center, Seattle, WA

Project 4: FSH patient derived IPS cells to study the developmental regulation of DUX4 transcription, Dan Miller, University of Washington, Seattle, WA

This collaborative project will work in partnership with Dr. Rabi Tawil at the Field's Center in Rochester, New York & utilize the resources of the Wellstone Center there.

Dr. Stephen Tapscott and Dr. Dan Miller were the second research team to receive funding from Friends of FSH Research for their pilot study "FSHMD Related Defects in Human Myogenesis" in 2006. They have continued to receive annual financial support from Friends of FSH Research over the past 4 years. We are extremely grateful to them for their dedication and we are delighted to have helped them earn this grant.

'News from Friends of FSH Research'

'News from Friends of FSH Research'

Facioscapulohumeral Muscular Dystrophy [GeneReviews. 1993] - PubMed result

Facioscapulohumeral Muscular Dystrophy [GeneReviews. 1993] - PubMed result:

"Facioscapulohumeral Muscular Dystrophy.

Lemmers RJLF, van der Maarel SM.
In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.
1999 Mar 08."

Excerpt

Disease characteristics. Facioscapulohumeral muscular dystrophy (FSHD) typically presents before age 20 years with weakness of the facial muscles and the stabilizers of the scapula or the dorsiflexors of the foot. Severity is highly variable. Weakness is slowly progressive and approximately 20% of affected individuals eventually require a wheelchair. Life expectancy is not shortened. Diagnosis/testing. FSHD is diagnosed by a molecular genetic test that identifies deletion of integral copies of a 3.3-kb DNA repeat motif, D4Z4, which is located in the subtelomeric region of chromosome 4q35. Normal D4Z4 alleles have 11-100 repeat units; those associated with FSHD have between one and ten repeat units. Molecular genetic testing detects approximately 95% of affected individuals and is clinically available. Management. Treatment of manifestations: low-intensity aerobic exercise; ankle/foot orthoses to improve mobility and prevent falls; surgical fixation of the scapula to the chest wall may improve range of motion of the arms over the short term; standard treatment of sensorineural hearing loss; lubricants to prevent drying of the sclera or taping the eyes shut during sleep to treat exposure keratitis. Surveillance: annual evaluation to assess strength and functional limitations. Genetic counseling. FSHD is inherited in an autosomal dominant manner. Approximately 70%-90% of individuals have inherited the disease-causing deletion from a parent, and approximately 10%-30% of affected individuals have FSHD as the result of a de novo deletion. Offspring of an affected individual have a 50% chance of inheriting the deletion. Prenatal testing for pregnancies at increased risk is possible if the D4Z4 contraction mutation has been identified in the family.

(To read more, go to this link http://www.ncbi.nlm.nih.gov/pubmed/20301616)

Building muscle - Sharing the Work of Dr. Kyba

Building muscle
Medical Bulletin Winter 2009
Minnesota Medical Foundation
University of Minnesota

Read about Dr. Michael Kyba - Friends of FSH Research's prior grant recipient

Searching for the best treatment target

To help steer future FSHD treatmentand cure-focused research down the right path, Kyba and his team are studying how the gene variation that causes FSHD, the third most common type of muscular dystrophy, causes muscle loss.

Scientists know that FSHD is caused by a missing piece of DNA that is part of a repetitive sequence. This area of DNA normally has about 100 copies of this particular sequence, Kyba says, but people who have FSHD have 10 or fewer copies.

“So there’s something in this repeat sequence that causes the disease when you have only 10 repeats but doesn’t cause the disease when you have more than 10 repeats,” he says. “Genetically, it’s a very mysterious disease.”

Kyba wants to know why this happens. By removing cells from people who have muscular dystrophy and reprogramming them to become induced pluripotent stem (iPS) cells, the team expects to gain insight into the genetic basis for this form of muscular dystrophy and hopes to find ways to genetically repair that diseasecausing defect.

“The protein encoded by this repetitive sequence is probably the best target for therapeutic intervention in FSHD, but we really haven’t proven it yet,” Kyba says. “We hope to use the iPS cells to show that the protein is expressed in muscle stem cells and validate that idea.”

Click above link to read entire article regarding University of Minnesota's Muscular Dystrophy works.

'News from Friends of FSH Research'

'News from Friends of FSH Research'
April 2010

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Thanks

Collaborative Grant to University of Washington Researcher to Speed Therapy Development for FSH Dystrophy

Collaborative Grant to University of Washington Researcher for Facioscapulohumeral Muscular Dystrophy

The Muscular Dystrophy Association (MDA), headquartered in Tucson, Ariz., and Friends of FSH Research (FFSHR), based in Kirkland, Wash., has jointly awarded a two-year, $200,000 grant to Dr. Joel Chamberlain, a research assistant professor of medical genetics at the University of Washington. The grant, equally funded by the two organizations, will enable the laboratory led by Dr. Chamberlain to study RNA interference as an investigative and therapeutic tool for facioscapulohumeral muscular dystrophy.