Tuesday, October 27, 2009

Auction Items the 6th Annual Event

Take a look at the great auction items for our 6th annual charity gala -
reservations being taken now - Don't Miss this one!

UC Med. Dept. - FSH Muscular Dystrophy research

Scientists at University of California,

Medical Department publish research in gene therapy.

Publication: Gene Therapy Weekly
Date: Thursday, October 29 2009

According to a study from the United States, "Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant muscular dystrophy in whichno mutation of pathogenic gene(s) has been identified. Instead, the disease is, in most cases, genetically linked to a contraction in thenumber of 3.3 kb D4Z4 repeats on chromosome 4q." "How contraction of the 4qter D4Z4 repeats causes muscular dystrophy is not understood. In addition, a smaller group of FSHD cases are not associated with D4Z4 repeat contraction (termed ''phenotypic'' FSHD), and their etiology remains undefined. We carried out chromatin immunoprecipitation analysis using D4Z4-specific PCR primers to examine the D4Z4 chromatin structure in normal and patient cells as well asin small interfering RNA (siRNA) treated cells. We found that SUV39H1-mediated H3K9 trimethylation at D4Z4 seen in normal cells is lost in FSHD.

Furthermore, the loss of this histone modification occurs notonly at the contracted 4q D4Z4 allele, but also at the genetically intact D4Z4 alleles on both chromosomes 4q and 10q, providing the first evidence that the genetic change (contraction) of one 4qD4Z4 allelespreads its effect to other genomic regions. Importantly, this epigenetic change was also observed in the phenotypic FSHD cases with no D4Z4 contraction, but not in other types of muscular dystrophies tested. We found that HP1 gamma and cohesin are co-recruited to D4Z4 in anH3K9me3-dependent and cell type-specific manner, which is disrupted in FSHD. The results indicate that cohesin plays an active role in HP1 recruitment and is involved in cell type specific D4Z4 chromatin regulation. Taken together, we identified the loss of both histone H3K9trimethylation and HP1 gamma/cohesin binding at D4Z4 to be a faithful marker for the FSHD phenotype," wrote W.H. Zeng and colleagues, University of California, Medical Department (see also Gene Therapy).

According to a study from the United States, "Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant muscular dystrophy in whichno mutation of pathogenic gene(s) has been identified. Instead, the disease is, in most cases, genetically linked to a contraction in thenumber of 3.3 kb D4Z4 repeats

"How contraction of the 4qter D4Z4 repeats causes muscular dystrophy is not understood. In addition, a smaller group of FSHD cases are not associated with D4Z4 repeat contraction (termed ''phenotypic'' FSHD), and their etiology remains undefined. We carried out chromatin immunoprecipitation analysis using D4Z4-specific PCR primers to examine the D4Z4 chromatin structure in normal and patient cells as well asin small interfering RNA (siRNA) treated cells. We found that SUV39H1-mediated H3K9 trimethylation at D4Z4 seen in normal cells is lost in FSHD. Furthermore, the loss of this histone modification occurs notonly at the contracted 4q D4Z4 allele, but also at the genetically intact D4Z4 alleles on both chromosomes 4q and 10q, providing the first evidence that the genetic change (contraction) of one 4qD4Z4 allelespreads its effect to other genomic regions. Importantly, this epigenetic change was also observed in the phenotypic FSHD cases with no D4Z4 contraction, but not in other types of muscular dystrophies tested. We found that HP1 gamma and cohesin are co-recruited to D4Z4 in anH3K9me3-dependent and cell type-specific manner, which is disrupted in FSHD. The results indicate that cohesin plays an active role in HP1 recruitment and is involved in cell type specific D4Z4 chromatin regulation. Taken together, we identified the loss of both histone H3K9trimethylation and HP1 gamma/cohesin binding at D4Z4 to be a faithful marker for the FSHD phenotype," wrote W.H. Zeng and colleagues, University of California, Medical Department (see also Gene Therapy).

The researchers concluded: "Based on these results, we propose a new model in which the epigenetic change initiated at 4q D4Z4 spreads its effect to other genomic regions, which compromises muscle-specific gene regulation leading to FSHD pathogenesis."

Zeng and colleagues published their study in Plos Genetics (Specific Loss of Histone H3 Lysine 9 Trimethylation and HP1 gamma/Cohesin Binding at D4Z4 Repeats Is Associated with Facioscapulohumeral Dystrophy (FSHD). Plos Genetics, 2009;5(7):559).

For more information, contact W.H. Zeng, University of California,School Medical, Dept. of Biology Chemical, Irvine, CA 92717, USA.

Publisher contact information for the journal Plos Genetics is: Public Library Science, 185 Berry St., Ste. 1300, San Francisco, CA 94107, USA.

FiSHing for a Cure Gala - January 30th


Gala Centerpiece by Viscosity Glass
www.viscosityglass.com

Get your tickets today for this gala event to benefit FSH Muscular Dystrophy research. To learn more about Facioscapulohumeral Muscular Dystrophy, or FSH, go to www.fshfriends.org

Saturday, October 24, 2009

New Auction Items - Less than 100 days till our event....




With less than 100 days till our event we have much work to do to insure we can successfully raise the money to fund additional Facioscapulohumeral Muscular Dystrophy research. We are so very thankful to those that have donated to this year's auction.

Check out some of the auction items today on my Flickr photo album, check back often to see updates.

Auction items:
Set 1
Set 2
Set 3



Today I visited with some artists at the Redmond Farmer's Market, always amazed at the generosity of our local art community. I will get more photos of the donated artwork up on our flickr account as soon as I can. You can look here & at our website www.fshfriends.org for updates regarding incoming auction items for this year's event.

If you would like to donate to our event, or have questions please contact me at fishauction@fshfriends.org.

Friday, October 23, 2009

Muscular Dystrophy Assn. & Friends of FSH Research Grant

Pacific Northwest Friends of FSH Research
PRESS RELEASE Contact: Terry Colella
425-827-8954
Friends of FSH Research
Oct. 22,

Circle of Friends
FSH Research Grant Announced
Kirkland, WA - Oct. 22, 2009.

Friends of FSH Research
and the Muscular Dystrophy Association announced
a $200,000 collaborative research grant "Therapeutic Targets for
Facioscapulohumeral Muscular Dystrophy (or FSH)"

This groundbreaking collaboration of these two organization was made possible
by Valerie A. Cwik, MD the Executive Vice President - Research & Medical Director
of the MDA. The president of Friends of FSH Research, Terry Colella, stated
"that I am very grateful to Dr. Cwik for her willingness to work with our organization
to make this special grant possible. I feel that this is a very positive step forward
for FSH research. I am pleased that the MDA will be actively promoting FSH
research by utilizing their large communication network as they send a call
out to researchers."

Ms. Colella further stated that this grant's aim is to "stimulate new scientific
interest in FSH research. With the help of the MDA's network we have a much
better opportunity to connect with scientists worldwide that may have the
expertise and ideas needed to move this research forward." MDA officials
reported that this grant announcement has already been sent out to more
than 800 researchers and research institutions.

The generous support given to Friends of FSH Research has made it possible
for them to collaborate with the MDA and provide this $200,000 two year grant
opportunity, $100,000 per year for 2 years.

Proposals are being invited, under a competitive Request for Applications
(RFA) process at the MDA.
The grant will be awarded to the strongest
project proposal which focuses on the identification, prioritization, and/or
validation of molecular targets for potential therapies or cures for
Facioscapulohumeral Muscular Dystrophy.

Circle of Friends
The 6th Annual "FiSHing for a Cure" Dinner & Auction will be held in the new
Grand ballroom at the Bellevue Hyatt on January 30, 2010.


Friends of FSH Research established in 2004 in Kirkland, Washington, is a home based
- volunteer run 501(3)(c) non-profit organization dedicated to expanding and
supporting FSH Muscular Dystrophy research.

Please contact us: P- 425-827-8954 F-425-576-9245
fishauction@fshfriends.org.
www.fshfriends.org

Circle of Friends
Circle of Friends THANKS TO OUR SPONSORS!!

Thursday, October 22, 2009

FSHD-Europe - the Voice of Europe

Gmail - FSHD Alert - October 7 - Study mRNA
FSHD Alert is now a FSHD-Europe free service
Last FSHD publication (Abstract)
===================================================================================================================================================

Eur J Hum Genet. 2009 Oct 7.

Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level.

Klooster R
, Straasheijm K
, Shah B
, Sowden J
, Frants R
, Thornton C
, Tawil R
, van der Maarel S
. Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.

In facioscapulohumeral muscular dystrophy (FSHD) the majority of patients carry a D4Z4 macrosatellite repeat contraction in the subtelomere of chromosome 4q.

Several disease mechanisms have been proposed to explain how repeat contraction causes muscular dystrophy. All proposed mechanisms foresee a change from a closed to a more open chromatin structure followed by loss of control over expression of genes in or proximal to D4Z4.

Initially, a distance and residual repeat size-dependent upregulation of the candidate genes FRG2, FRG1 and ANT1 was observed, but most successive expression studies failed to support transcriptional upregulation of 4qter genes. Moreover, chromatin studies do not provide evidence for a cis-spreading mechanism operating at 4qter in FSHD. In part, this inconsistency may be explained by differences in the techniques used, and the use of RNA samples obtained from different muscle groups.

The aim of this study is to comprehensively and uniformly study the expression of the FSHD candidate genes FRG1, FRG2, CRYM, ANT1, ALP, PITX1 and LRP2BP at the RNA and protein level in identically processed primary myoblasts, myotubes and quadriceps muscle.

Expression was compared between samples obtained from FSHD patients and normal controls with samples from myotonic dystrophy type 1 patients as disease controls. No consistent changes in RNA or protein expression levels were observed between the samples. The one exception was a selective increase in FRG2 mRNA expression in FSHD myotubes.

This study provides further evidence that there is no demonstrable consistent, large magnitude, overexpression of any of the FSHD candidate genes.

===================================================================================================================================================

FSHD-Europe
. Muscular Dystrophies Campaign (MDC) : UK
. FSHD Stichting : Netherlands
. Unione Italiana Lotta alla Distrofia Muscolare (UILDM) : Italy
. Amis FSH Europe : France

===================================================================================

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common dystrophies (1 case in 14,000 individuals).
FSHD is characterized by a and progressive loss of motion autonomy. Its infantile form (iFSHD) is considered the most severe form of the disease.
The origin of FSHD has not yet been identified, nor has a therapy been found for the moment.
============================================================

Monday, October 19, 2009

FiSHing for a Cure Auction Items

New Auction Items for January 30th "FiSHing for a Cure" gala

Thrilled to have the support of our local artists - here is a growing "set" on Flickr of auction items that will be featured at our 2010 gala on January 30th.

Check back often to see new items!

Friday, October 16, 2009

Orphan Conditions Get Increased NIH Funding

Muscular Dystrophy Association Applauds New Federal Support For Neuromuscular Diseases

Main Category: Muscular Dystrophy / ALS
Also Included In: Neurology / Neuroscience
Article Date: 09 Oct 2009

The National Institutes of Health has announced a $117 million expansion of its Rare Diseases Clinical Research Network, adding 14 research consortia, or groups, to the Network's second phase and will continue funding the five original groups. Having long recognized the research challenges for communities affected by rare disorders, the National Institutes of Health established the Office of Rare Disease Research in 1993 to ensure an increased focus on rare disorder treatment discovery. The recent funding announcement of the 19 consortia represents an extraordinary increase and an innovative collaborative approach involving a cross section of NIH institutes.

Three of the new disease groups will be directed by Muscular Dystrophy Association-supported physician/researchers.

Dr. Salvatore DiMauro of Columbia University, a world renowned expert on mitochondrial and metabolic diseases whose research is supported by MDA, will be the principal investigator for the North American Mitochondrial Diseases Consortium. Mitochondria produce the energy that nerve and muscle cells need to function.

DiMauro said, "For me, a researcher interested in mitochondrial diseases for the past 30 years, an NIH-sponsored North American Consortium is the recognition, at long last, that this group of disorders is an important public health problem."

"People with mitochondrial diseases have long felt like orphans in the large community of patients with inborn errors of metabolism because their disorders were not clinically uniform nor readily identified by the general public. MDA has supported mitochondrial disease patients and research for over two decades," DiMauro added.

The new disease groups will create specialized international research networks, allowing collaboration and sharing of data. They also include patient advocacy groups, crucial for providing patients for clinical trials, something that has always been a challenge because the number of patients affected by these diseases is so low.

The research conducted with the new NIH funding will focus on the history, epidemiology, diagnosis and treatment of over 95 rare diseases. A rare disease is defined as a disease or condition that affects less than 200,000 people in the United States.

Dr. Michael Shy is a leading researcher of Charcot-Marie-Tooth disease, an inherited neurological disorder, and heads the North American CMT Network, funded by MDA. He is also the director of the MDA Clinic at Wayne State University in Detroit and has been named principal investigator for the Inherited Neuropathies Consortium.

"I am certain that it will speed up discovery of treatments and cures. Developing a system in which all patients are evaluated the same way in the U.S., Europe and beyond will provide the natural history data needed to plan treatment trials. Partnerships with scientists and clinicians ensure that treatment trials will be rationally based."

Another MDA-supported researcher, Dr. Robert Griggs of Rochester University in New York has served for five years as principal investigator of the Consortium for Clinical Investigations of Neurologic Channelopathies, focusing on diseases such as episodic ataxias and non-dystrophic myotonic disorders. This consortium is one of the original network groups. As a result of his consortium's outstanding work, it has been awarded additional federal funding for two more years.

MDA has provided vital funding to support Griggs' work for over 20 years.

In addition, Dr. Chester B. Whitley, of the University of Minnesota, has been named the principal investigator for the Lysosomal Storage Disease Consortium. The consortium includes an aggressive Pompe disease research initiative. Pompe disease is one of the diseases included in MDA's programs. MDA funded the basic research that led to the first specific treatment for the disease.

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education.

Source
Muscular Dystrophy Association

Wednesday, October 14, 2009

Eastside Women In Business - Friends of FSH Research



Eastside Women In Business (EWIB)
- Seattle Eastside Women Networking, Women Business Networking

The first annual EWIB Gala which recognized Friends of FSH Research was held Sunday evening October 11th.

Thanks to all for their enthusiastic support of our organization & our mission to accelerate FSH Muscular Dystrophy research!!

Saturday, October 10, 2009

Thursday, October 8, 2009

FSH Cape Cod Fundraiser - Oct. 10th


Walk ’n’ Roll for FSH muscular dystrophy, 1 p.m. Saturday Oct. 10th (late registration noon), Cape Cod Rail Trail, Brewster, from Stony Brook Elementary School to Nickerson State Park. Non-competitive event for walkers and rollers (wheelchair users) and anyone who wants to participate. $25 registration. Fee waived if participant raises $125 in donations. www.fshsociety.org. 508-957-2062.

Thursday, October 1, 2009

News from Friends of FSH Research - Oct. 2009

October Newsletter

In our efforts to decrease printing & mailing expenses we are hoping to reach our friends & donors through our email newsletter.

Please check out our latest news, and if you would like to receive our newsletter in your email mailbox please contact us!