FSHD - Defined

Awaiting the News - NIH Funding For FSHD Research in Seattle

Dr. Stephen Tapscott, based at the Fred Hutchinson Research Center was one of the Friends of FSH Research's pilot grants in 2006. He and Dr. Dan Miller received a two-year grant for $100,000 for their study "FSHMD Related Defects in Human Myogenesis." This was just the beginning.....

A grant application was sent to NIH in May 2009 that includes several collaborative projects on FSHD to be conducted by the Fields Center in collaboration with the Fred Hutchinson Cancer Research Center in Seattle. This application will solidify the Fields Center’s collaboration with Dr. Stephen Tapscott’s laboratory in Seattle as well as bring in two additional research groups at the Fred Hutchinson Cancer Research Center solidly into the FSHD research arena. We are very hopeful that this proposal will be funded because of the strength of the research data presented and the fact that the Field Center provides the necessary infrastructure to assure the success of this venture. If funded, this project will significantly boost the research efforts into finding the cause of FSHD and the development of a rational approach to treatment.

from The Fields Center's, University of Rochester
Wellstone Muscular Dystrophy Center


We are eagerly and anxiously awaiting word from the NIH regarding this larger, more expansive grant application funding. If awarded, the Tapscott laboratories will have the funding to move this work at a more rapid pace and those with FSH Muscular Dystrophy will have reason to have great hope!

Life With FSHD - Video production

This video production was made for Friends of FSH Research and was shown at their 6th annual "FiSHing for a Cure" Auction & Dinner. All proceeds from this event will go toward funding FSHD research.

Please share this video with others - the more people are aware of this condition, the more possibility of getting the research funding necessary to move us closer to a treatment or cure.

Thank You.

'Excited, bewildered - in disbelief'

'Excited, bewildered - in disbelief'

For the last day of the Olympic torch relay, organizers brought out the big guns: Arnold Schwarzenegger, astronaut Julie Payette, Walter Gretzky, singers Jann Arden and Michael Bublé and Montrealer Keith Martin.

Martin, 24, is the young man The Gazette profiled in 2008 when he cycled across Canada to raise money for muscular dystrophy.

Martin has the muscle wasting disease, which made his journey all the more poignant.

In his last semester at the University of British Columbia, he is a volunteer for the winter games at the hockey arena and was chosen to carry the torch through the streets of Vancouver.

After barely sleeping three hours on Thursday night because of nerves and getting up at 3 a.m. to tape up the logos on his runners (no advertising allowed) Martin was dropped off for his turn carrying the Olympic torch, on East 1st St. "I am incredibly excited, bewildered, and generally in complete disbelief," Martin wrote in an email before the run.

Read more: http://www.montrealgazette.com/sports/Excited+bewildered+disbelief/2558795/story.html#ixzz0fUErVz2C

Muscular Dystrophy Canada Ambassador Keith Martin to Carry Olympic Torch

Muscular Dystrophy Canada Ambassador Keith Martin to Carry Olympic Torch

Feb 11, 2010

VANCOUVER, BRITISH COLUMBIA--(Marketwire - Feb. 11, 2010) - Muscular Dystrophy Canada Ambassador Keith Martin will take to the road - again! Keith will carry the Olympic Torch along East 1st Street Avenue from Salsbury Drive to Semlin Drive in Vancouver on Friday, February 12 at 10:00 AM PST.

Keith was diagnosed with Facioscapulohumeral Dystrophy (FSHD) in October 2005. FSHD is an autosomal dominant disorder that affects the skeletal muscles. FSHD occurs in the Canadian population at an estimated frequency of about one in twenty thousand.

Keith gained national recognition when he and four friends - The Flying Five - participated in the Moving Muscles Ride 2008. They cycled across the country raising $150,000 along the way through a letter campaign.

Currently in the process of completing a Bachelor of Applied Science at the University of British Columbia, Keith is proud to be a part of the Torch Relay.

"I am a huge fan of the Olympics! I think it's amazing how the world comes together to celebrate the competing athletes and their achievements. The passion and pride is incredible," Keith wrote in an email.

"Being in Vancouver for these Olympics is that much more special. It's truly a once-in-a-lifetime opportunity."

Keith Martin along with Danielle Campo, Russ Howards and Danielle Peers, who carried the Olympic Torch in January in Edmonton, are Muscular Dystrophy Canada's National Ambassadors.

Muscular Dystrophy Canada's mission is to enhance the lives of those affected with neuromuscular disorders by continually working to provide ongoing support and resources while relentlessly searching for a cure through well-funded research. For more information on muscular dystrophy or Muscular Dystrophy Canada, visit www.muscle.ca.

Success Boosting Monkey Muscle Could Help Humans : NPR

Success Boosting Monkey Muscle Could Help Humans : NPR

Scientists are a step closer to finding a treatment for people with diseases like muscular dystrophy, thanks to some muscle-bound monkeys.

The monkeys grew bigger thigh muscles after receiving a type of gene therapy, according to a new study published in the journal Science Translational Medicine.

Because monkeys are genetically similar to humans, the success means this sort of gene therapy is likely to work on people too.

(read rest of story on NPR site)

Common epigenetic changes of D4Z4 in contraction-d... [Hum Mutat. 2009] - PubMed result

Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.

de Greef JC, Lemmers RJ, van Engelen BG, Sacconi S, Venance SL, Frants RR, Tawil R, van der Maarel SM.

Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.

Comment in:

• Hum Mutat. 2009 Oct;30(10):v.

Facioscapulohumeral muscular dystrophy (FSHD), caused by partial deletion of the D4Z4 macrosatellite repeat on chromosome 4q, has a complex genetic and epigenetic etiology. To develop FSHD, D4Z4 contraction needs to occur on a specific genetic background. Only contractions associated with the 4qA161 haplotype cause FSHD. In addition, contraction of the D4Z4 repeat in FSHD patients is associated with significant D4Z4 hypomethylation. To date, however, the methylation status of contracted repeats on nonpathogenic haplotypes has not been studied. We have performed a detailed methylation study of the D4Z4 repeat on chromosome 4q and on a highly homologous repeat on chromosome 10q. We show that patients with a D4Z4 deletion (FSHD1) have D4Z4-restricted hypomethylation. Importantly, controls with a D4Z4 contraction on a nonpathogenic chromosome 4q haplotype or on chromosome 10q also demonstrate hypomethylation. In 15 FSHD families without D4Z4 contractions but with at least one 4qA161 haplotype (FSHD2), we observed D4Z4-restricted hypomethylation on chromosomes 4q and 10q. This finding implies that a genetic defect resulting in D4Z4 hypomethylation underlies FSHD2. In conclusion, we describe two ways to develop FSHD: (1) contraction-dependent or (2) contraction-independent D4Z4 hypomethylation on the 4qA161 subtelomere.

NIH Studies - FSHD 2009-2010 Grants

NIH Research Portfolio Online Reporting Tool (RePORT) - RCDC Project Listing by Category

	FY				Project Title	PI Name	Org Name	State / Country	Amount
FSHD	2009	NIAMS			Molecular Pathphysiology of FSHD muscular dystrophy via genome-wide approaches	CHEN, YI-WEN	CHILDREN'S RESEARCH INSTITUTE	DC	$349,762
FSHD	2009	NINDS			FSHD: Chromatin Structure, Looping, & Expression	EHRLICH, MELANIE	TULANE UNIVERSITY OF LOUISIANA	LA	$220,953
FSHD	2009	NIAMS			Molecular mechanism of FSHD pathology	JONES, PETER	UNIVERSITY OF ILLINOIS URBANA-CHAMPAIGN	IL	$252,774
FSHD	2009	NIAMS			An Animal model to develop therapeutic strategies for FSHD	TUPLER, ROSSELLA	UNIV OF MASSACHUSETTS MED SCH WORCESTER	MA	$342,388
FSHD	2009	NIAMS			Epigenomic Analysis of Facioscapulohumeral Muscular Dystrophy	YOKOMORI, KYOKO	UNIVERSITY OF CALIFORNIA IRVINE	CA	$173,502
FSHD	2009	RMAP			Epigenomic Analysis of Facioscapulohumeral Muscular Dystrophy	YOKOMORI, KYOKO	UNIVERSITY OF CALIFORNIA IRVINE	CA	$101,898
FSHD	2009	NIGMS			Heterochromatin on the human inactive X chromosome	CHADWICK, BRIAN	FLORIDA STATE UNIVERSITY	FL	$308,370
FSHD	2009	NIAMS			National Registry for Myotonic Dystrophy & Facioscapulohumeral Muscular Dystrophy	MOXLEY, RICHARD	UNIVERSITY OF ROCHESTER	NY	$373,760
FSHD	2009	NINDS			National Registry for Myotonic Dystrophy & Facioscapulohumeral Muscular Dystrophy	MOXLEY, RICHARD	UNIVERSITY OF ROCHESTER	NY	$200,000
FSHD	2009	NICHD			Biomarker Discovery in Muscles from FSHD Patients	KUNKEL, LOUIS	BOSTON BIOMEDICAL RESEARCH INSTITUTE	MA	$330,385
FSHD	2009	NICHD			Myogenesis Studies for FSHD Biomarkers	EMERSON, CHARLES	BOSTON BIOMEDICAL RESEARCH INSTITUTE	MA	$326,288
FSHD	2009	NICHD			Model Studies for FSHD Biomarkers	MILLER, JEFFREY	BOSTON BIOMEDICAL RESEARCH INSTITUTE	MA	$272,010
FSHD	2009	NICHD			Administrative Core	EMERSON, CHARLES	BOSTON BIOMEDICAL RESEARCH INSTITUTE	MA	$79,176
FSHD	2009	NINDS			Overall Review	MOXLEY, RICHARD	UNIVERSITY OF ROCHESTER	NY	$134,407