Thursday, December 31, 2009

Tarantula Venom Therapy?

Tarantula venom could help treat muscular dystrophy

Thursday, December 31, 2009 13:37 IST
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WASHINGTON: Tarantulas—the big, hairy and to many people very scary spiders—could actually help people suffering from muscular dystrophy, say scientists at University of Buffalo.

Biophysicists have found a protein in tarantula venom that shows promise as a potential therapy for MD, which is a group of inherited muscle diseases.

Fredrick Sachs, a professor of physiology and biophysics at the University at Buffalo, and his colleagues discovered the peptide, called GsMTx4.

The researchers extensively tested the effect of GsMTx4 on mice with muscular dystrophy and found the drug increased muscle strength and caused no deaths or toxicity, reports Fox News.

Sachs said the peptide also has potential therapy for several other conditions, such as neuropathic pain and atrial fibrillation.

Hoping to advance the drug to clinical trials, the researchers have formed a biotech company in Buffalo, NY called Rose Pharmaceuticals.

Currently, there's no cure for muscular dystrophy, but medications and therapy can help slow the course of the disease.

Tuesday, December 29, 2009

Calling All Researchers - FSHD Global Research Foundation Ltd

Calling All Researchers - FSHD Global Research Foundation Ltd

The FSHD Global Research Foundation has established a track-record for funding cutting edge research into Fascioscapulo Humeral Dystrophy in research institutions across the world. We currently have seven diverse projects receiving funding in the United States, Europe and Australia. Please click here for more information.

Thursday, December 24, 2009

Hearing & FSHD

2004, Vol. 2, No. 4, Pages 247-254 , DOI 10.1080/16513860410005334

Audiological investigations in patients with late onset facioscapulohumeral muscular dystrophy (FSHD)

Fei Zhao1, Dafydd Stephens2, Mark Rogers3 and Peter Harper3
1School of Health Science University of Wales Swansea UK
2Welsh Hearing Institute University Hospital of Wales Cardiff UK
3Institute of Medical Genetics University of Wales College of Medicine Cardiff UK

We have systematically tested the peripheral auditory system in 21 late-onset FSHD cases. The pure tone thresholds did not differ significantly at low and mid frequencies in either better ear or worse ear between FSHD subjects and controls. The patients with FSHD had significantly better hearing thresholds at 4 and 6kHz than the normative data in the better and the worse ears. Transient evoked otoacoustic emissions (TEOAEs) were recorded as an objective and sensitive method for evaluating cochlear function. A significantly lower occurrence of TEOAEs was found in the FSHD patients with hearing thresholds better than 20dB HL. Furthermore, this study provides evidence for the neuromuscular abnormalities of FSHD through its findings on the relaxation time of the acoustic stapedial reflex. A significantly longer relaxation time was found in patients with FSHD. No significant correlations were found between age and severity, or between duration and severity. Moreover, there were no significant correlations between hearing level and clinical severity in patients with FSHD.

Sunday, December 20, 2009

living with Muscular Dystrophy, FSHD - AOL Video

Kristin Duquette talks about living with Muscular Dystrophy, FSHD - AOL Video

This is a very good explanation about FSHD and life coping with FSHD's impact.
Kristin Duquette is a Challenged Athlete training for the ParaOlympics.

Another excerpt from someone's story about FSHD:
It’s 1976 and flash bulbs pop as eager relatives urge seven-year-old Lilleen Walters to smile for the camera. Feeling fancy in her flower girl dress, she fights to curve her lips into a smile to please the wedding guests, but her muscles won’t obey. Days and months go by, and Lilleen still can’t smile. Doctors believe she is depressed, and recommend counseling and antidepressants. They don’t help. Years later, when she is 15, Lilleen is diagnosed with facioscapulohumeral muscular dystrophy (FSHD), a genetic, hereditary muscle disease that causes progressive muscle weakness.

Saturday, December 19, 2009

Friends of FSH Research Newsletter - Auction

Read the latest news from Friends of FSH Research - News & Auction Information

Join us for a Caribbean Night of Fun & Benefit Facioscapulohumeral Muscular Dystrophy Research!!

Get tickets Now!
Contact Us - or call 425-827-8954

Netherlands - FSH Research - Epigenetic Causes

Project: Epigenetic causes of facioscapulohumeral muscular dystrophy

* Title (NL) Epigenetische oorzaken van facioscapulohumerale spierdystrofie
* Period 09 / 2004 - 09 / 2008
* Status Current S.M. van der Maarel Project Leader

Facioscapulohumeral muscular dystrophy (FSHD) is caused by an epigenetic disease mechanism involving contraction of the D4Z4 repeat array on chromosome 4qter. This contraction likely induces a local chromatin alteration, possibly resulting in transcriptional deregulation of 4qter genes as (1) some genes on 4qter appear to be transcriptionally upregulated in FSHD, (2) D4Z4 is hypomethylated in FSHD chromosomes, and (3) patients clinically indistinguishable from FSHD but without contraction of D4Z4 are also hypomethylated at D4Z4. Thus, in non-4q-linked FSHD, the pathogenetic pathway also acts through an epigenetic mechanism on chromosome 4. However, the structural and functional consequences of D4Z4 hypomethylation in 4q-linked and non-4q-linked FSHD are unknown. Interestingly, the immunodeficiency, centromere instability and facial anomalies (ICF) syndrome also shows hypomethylation of D4Z4, but does not present with muscular dystrophy. To understand FSHD and ICF etiology, and to better understand the functional and structural role of D4Z4 in FSHD and ICF, we propose to study the chromatin structure of D4Z4 in muscle, myoblast and fibroblast cell lines of 4q-linked FSHD, non-4q-linked FSHD and ICF syndrome patients. This will include precise methylation analysis of D4Z4 by allele-specific bisulfite conversion to identify consistent differences in D4Z4 methylation between FSHD and ICF that may reflect structural domains within D4Z4 through differential methylation-dependent binding of DNA-associated proteins. We will further study the chromatin structure of 4qter by allele-specific DNAseI chromatin-sensitivity, chromatin immunoprecipitation and RNA interference assays. In parallel, we will perform quantitative expression analyses of 4qter genes to study the functional consequences of D4Z4 chromatin changes. Finally, we will establish a cellular model system to study the fundamental involvement of D4Z4 in epigenetic structuring of subtelomeric chromosome domains. We expect that this study will provide a fundamental insight intp the (differential) epigenetic mechanism of FSHD and ICF.

Sunday, December 6, 2009

FSH-MD Support Group UK

Visit the newly re-constructed website for the FSH MuscularDystrophy Support Group UK

This is a great resource for those, worldwide, diagnosed with FSHD, as stated in this message by one of the group's founders.

…."I wanted to find out more about this condition and help Lisa to meet other people with FSH-MD, I felt the best way to go about this was to start a support group". Lorraine

Reaching out & talking with other, telling people about FSH will increase the public's awareness of FSHD. Here is a resource for those with FSH to get support & learn from others that live with FSHD.

Clinical Genetics - 2009 - FSHD Common Form

Clin Genet. 2009 Jun;75(6):550-5. Epub 2009 Mar 23.

Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample.

Mostacciuolo ML, Pastorello E, Vazza G, Miorin M, Angelini C, Tomelleri G, Galluzzi G, Trevisan CP.

Department of Biology, University of Padua, Padua, Italy.

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disease associated with a partial deletion on chromosome 4q35. Few relevant investigations have been reported on its epidemiology and were essentially based on clinical diagnosis, having been performed before recognition of the molecular mutation. We report an epidemiological survey on FSHD patients, in which the diagnosis was obtained by combined clinical and molecular evaluation. The survey concerned the north-east Italian province of Padova, an area of 871,190 inhabitants (1 January 2004). We identified 40 patients affected by FSHD based on clinical diagnosis. In 33 of them, the EcoRI fragment size in the 4q35 region ranged from 14 to 35 kb. Four other patients belonging to the same family harbored a 38-kb fragment. In these four cases, the relationship between the borderline deletion with the mild FSHD phenotype was corroborated by additional haplotype reconstruction and segregation analysis. Interestingly, the same mild facial-sparing clinical pattern was apparent only in one other patient with an EcoRI fragment of 32 kb, suggesting that this unusual FSHD phenotype may be due to very small 4q35 deletions. On the whole, estimating a prevalence rate of 44 x 10(-6), our survey confirmed FSHD as one of the most frequent neuromuscular disorders in Western populations.

Tuesday, December 1, 2009

Procurement in Seattle

Walking the streets of downtown Seattle -
Out procuring for our 6th annual auction today - speaking to hotel managers, restaurateurs and shop keepers. What a variety of experiences.

Starting off at the Seattle Westin, where I could not speak with the person in charge of donations, etc. but I spoke with her assistant who was interested and sincerely cared about our cause. I walked on to the Mayflower Hotel and the Andaluca Restaurants - in both places I was greeted warmly and treated with sincere interest. At the Rocky Mountain Candy Shop near Pike Place market, the manager simply said "yes" and completed the donation form. He was most willing to lend his support to our cause!

Procurement is by far the hardest part of our conducting a benefit auction. I am not much of a public speaker nor do I like asking for help. But, in order to be successful and raise the money necessary for FSH research it is essential to get out there and ASK! I don't expect everyone to donate, or to find our cause the one they wish to support, but I am surprised (and disappointed) when I am treated without any respect or where there is no regard for our cause. (funding FSH research)
Thankfully, I was only in a few businesses where they rolled their eyes, or made it clear that they wish I would leave. It would be inappropriate for me to name the places where I was treated poorly, but I know those are places where I will never do business.

One of my final stops was at the Sazerac Restaurant. I ended there on a good note. The manager there took the time to talk with me and truly listen to my story about Brian, our family & our work to fund FSH research. Without hesitation he said "yes," he would be pleased to help and support FSH research. Now there's a place that I will visit again, as a customer!

Thursday, November 26, 2009

New Posting - Research from Lab. de Genetique Moleculaire

Eur J Hum Genet. 2009 Nov 25.

New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?

Barat-Houari M

, Nguyen K
, Bernard R
, Fernandez C
, Vovan C
, Bareil C
, Van Kien PK
, Thorel D
, Tuffery-Giraud S
, Vasseur F
, Attarian S
, Pouget J
, Girardet A
, Lévy N
, Claustres M

CHU de Montpellier, Laboratoire de Génétique Moléculaire, Montpellier, France.

Molecular pathophysiology of facioscapulohumeral muscular dystrophy (FSHD) involves the heterozygous contraction of the number of tandemly repeated D4Z4 units at chromosome 4q35.2. FSHD is associated with a range of 1-10 D4Z4 units instead of 11-150 in normal controls.

Several factors complicate FSHD molecular diagnosis, especially the cis-segregation of D4Z4 contraction with a 4qA allele, whereas D4Z4 shortening is silent both on alleles 4qB and 10q. Discrimination of pathogenic 4q-D4Z4 alleles from highly homologous 10q-D4Z4 arrays requires the use of the conventional Southern blot, which is not suitable at the single-cell level.

Preimplantation genetic diagnosis (PGD) is a frequent request from FSHD families with several affected relatives. We aimed to develop a rapid and sensitive PCR-based multiplex approach on single cells to perform an indirect familial segregation study of pathogenic alleles.

Among several available polymorphic markers at 4q35.2, the four most proximal (D4S2390, D4S1652, D4S2930 and D4S1523, <1.23>

Instead, a particular haplotype segregated with both clinical and molecular status, allowing the characterization of an at-risk allele in each tested FSHD family (maximal LOD score 2.98 for theta=0.0).

This indirect protocol can easily complement conventional techniques in prenatal diagnosis.

Although our multiplex PCR-based approach technically fulfils guidelines for single-cell analysis, the relatively high recombination risk hampers its application to PGD.

Sunday, November 22, 2009

Raising money for FSH research, one meal at a time!

Favorite Thanksgiving Recipes and other highlights from the Celebrated Chefs program
- Sign Up for the Celebrated Chefs program and help fund FSH Muscular Dystrophy research.
(could not be easier)

Happy Thanksgiving!

And thank you for supporting Friends of FSH Research through Celebrated Chefs. As an exclusive thank you for your support, five of our chefs have generously shared a favorite recipe for you to enjoy this season. From their kitchen to yours, we hope these new dishes will be part of your Thanksgiving celebration. Perhaps a new family favorite will emerge!

Go to the link & read more about the Celebrated Chefs program & get some great recipes too.

Saturday, November 21, 2009

News from Pacific Northwest Friends of FSH Research -

News from Pacific Northwest Friends of FSH Research (click to see the complete November newsletter)

It is hard to believe but we are rapidly approaching our 6th "FiSHing for a Cure" gala!

When we began Friends of FSH Research in 2004, it was out of a sense of determination mixed with desperation. How could my son, previously a picture of health, have a condition that would impact his life and eliminate many of his opportunities? As a parent and a nurse, being told that there was absolutely nothing I could do to impact his condition was unbearable and unacceptable.

So taking our love for Brian and a trust in our community we embarked on a new journey of fundraising for Facioscapulohumeral Muscular Dystrophy (or FSH) research. We owe much to all of those who have joined with our family on this mission - the progress we have made is due to their generous support.
Our work must continue. We have new FSH researchers launched and have stimulated interest in this long neglected field. The research is moving forward, our knowledge is building and collaborations between laboratories is on-going. Funds raised on January 30th will help us push this work forward - toward a much needed treatment.

My warmest thanks to you all,

Thursday, November 19, 2009

Organizing a successful fundraiser

Organizing a successful fundraiser starts and ends with people |

Great write up of some of what it takes to conduct a fun raising event.
Congratulations to all those involved in the "Rock & Roll" event!

Monday, November 16, 2009

75 Days Until our 6th Auction

Wow! Every day I am reminded about how many days until our fundraising event. I am still so far behind where we need to be for this event. Items are coming in, mostly small -- very nice, but low priced items that are necessary but not what will really help us raise the money needed to fund another research study. How to obtain hotels, restaurant gift certificates, airline tickets, cruises and vacation locations.... that is what we still need to get to where we need to be. It is a yearly challenge, that for just a few of us to obtain is quite difficult.
I really must start writing more letters & making the phone calls to tie down items for this auction.
We attended the Best of Northwest Art Fair this past week-end. Such an amazing group of people! Without the support of the Northwest art community I don't believe we would have ever obtain the level of success we have had. Again this year was quite phenomenal, the giving was open & generous. No matter how well the artist has done this year, or this show, most were ready and even eager to lend a hand.
Many many thanks to each and every one of the artists from the Best of the Northwest Art Fair!!!

Friday, November 13, 2009

Sweet potatoes - Nutrition Packed in Skin

WHFoods: Sweet potatoes

This is a great run down of all of the benefits of sweet potatoes -
for those with FSHD (or other chronic conditions) sweet potatoes are full of anti-oxidants and anti-inflammatory properties.

Personal Stories make the Difference

This is a blurb from the Network for Good folks -
how true, yet how hard to obtain.

Our organization has worked to raise the awareness of FSH, to tell how lives are altered by this condition and why people should care about it & the lives it changes. Every year I have requested personal stories to share. I have asked for stories, long or short to share - offered stories to be anonymous.... few responses have ever been submitted. Some may feel that we only talk about our son.... unfortunately, I have few other stories to tell.

"Ask any non-profit, and they'll tell you there's nothing better than a personal, heartfelt story to put a face on their cause. Far better than organizational blah-blah or sterile statistics, stories help donors (and future donors) learn an organization's personality. Stories help donors feel engaged in the work-and see the difference they can make in a real person's life. They empower the organization and its supporters to continue on."

Personal stories - life experiences are what people care about, why they will give...

Wednesday, November 11, 2009

Treatment to improve degenerating muscle gains strength

Treatment to improve degenerating muscle gains strength

Contact: Mary Ellen Peacock
Nationwide Children's Hospital

Treatment to improve degenerating muscle gains strength

A study appearing in Science Translational Medicine puts scientists one step closer to clinical trials to test a gene delivery strategy to improve muscle mass and function in patients with certain degenerative muscle disorders.

Severe weakness of the quadriceps is a defining feature of several neuromuscular disorders. Researchers at Nationwide Children's Hospital have shown that a gene delivery strategy that produces follistatin – a naturally occurring protein that inhibits myostatin, a growth factor expressed specifically in skeletal muscle – directly to the quadriceps of non-human primates results in long-term gene expression with muscle enhancing effects, including larger muscles with greater strength.

Previously, Nationwide Children's researchers demonstrated follistatin's therapeutic potential using rodent models. This more recent study produced similar results in non-human primates, in a translational study to demonstrate efficacy in safety in a species more closely related to humans. Non-human primates that received the injection of the follistatin transgene experienced pronounced and durable increases in muscle size and strength. Muscle growth occurred for 12 weeks after treatment, after which time the growth rates appeared to stabilize and were well tolerated, with no adverse events noted over the course of the 15-month study.

"Our studies indicate that this relatively non-invasive approach could have long-term effects, involve few risks and could potentially be effective in various types of degenerative muscle disorders including multiple forms of muscular dystrophy," said the study's corresponding author, Brian Kaspar, PhD, principal investigator in the Center for Gene Therapy of The Research Institute at Nationwide Children's Hospital.

Jerry Mendell, MD, principal investigator in the Center for Gene Therapy at Nationwide Children's added, "These findings serve as the basis for testing in patients and give us confidence in moving forward with our translational program of follistatin to enhance muscle mass."

The research team has developed a plan with the Food and Drug Administration and is currently in the process of performing the formal toxicology and biodistribution studies to support initiating a human clinical trial.

The potential use of this strategy for muscle strengthening has important implications for patients with muscle diseases including Duchenne muscular dystrophy – the most common form of muscular dystrophy – as well as for the planned first clinical trial for inclusion body myositis. It also may be applicable to other forms of muscular dystrophy, such as facioscapulohumeral muscular dystrophy, in which gene replacement or other types of gene manipulation are not feasible because of the absence of a specific gene defect.

Eat the colors of the rainbow | Eating Well

Eat the colors of the rainbow | Eating Well:
"Eat the colors of the rainbow

Eat the colors of the rainbow. It's easy to identify foods with the highest levels of antioxidants—they're often the most colorful. Carrots and sweet potatoes have plenty of beta carotene; bell peppers, strawberries and tomatoes contain vitamin C; tomatoes and watermelon have lycopene; and dark leafy greens like spinach contain lutein. Blueberries have anthocyanins. Red grapes have resveratrol."
Great source of information at

Tuesday, November 3, 2009

Living with FSH Muscular Dystrophy

I found this on the internet today, written by Preston Craig - he writes eloquently about the life altering affects of Facioscapulohumeral Muscular Dystrophy....

Why I’m leaving

As many of you know, I have an ever progressing genetic disorder known as FSH Muscular Dystrophy. Earlier this Summer, I finally lost the ability to drive. As my disease has progressed, I’ve always managed to adapt to my physical losses and keep some amount of my independence. Driving was a major part of this. Now, if I want to leave my house, I am 100% dependent on other people to do so. If I so much as want to get a coffee, I have to schedule it with someone else. This is something I am not coping well with. In fact, I’ve been horribly depressed and miserable about it.

I’ve lost the ability to do a lot of things in my life, and every time I make an adaptation to counter it. When I had a hard time walking, I went into a chair and was actually relieved to be able to get around so easily. Now, I just need to adapt again and move to a community where I can take a cab, bus, or walk anywhere I need to go regardless of time of day or night.

To read more about this man and more from this blog go to

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

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

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 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

Friday, October 23, 2009

Muscular Dystrophy Assn. & Friends of FSH Research Grant

Pacific Northwest Friends of FSH Research
PRESS RELEASE Contact: Terry Colella
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

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.


. 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.

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. 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!

Wednesday, September 30, 2009

Standing In Line for Vodka for FSH research?

Yep, Dan Akroyd was in Seattle promoting his "Crystal Head" triple filtered vodka.... I stood in line (among other fans) to have a bottle signed.

Go see the Youtube video ..... tells his story, or the story of the head.

It wasn't quite the star interaction I had imagined....some how I thought he might be interested in our cause & that this Vodka would be auctioned off at a charity event. But, it really was "just marketing." No funny jokes, no Akroyd humor or funny bits, just head down & sign the bottles, an assembling line.

I even gave him our very old, hand-made "Ghost Busters" costume that Brian had worn for Halloween more than 15 years ago - I thought he might get a laugh out of that!

Anyway the autographed head will be sold at our auction - come bid on the head & make it yours!

Tuesday, September 29, 2009

Lucy's Blog - What is FSHD (or FSH)

Here is a recent posting from Australia - Lucy gives a great, easy to understand description of what Facioscapulohumeral Muscular Dystrophy is and how it affects those that live with it daily.
To follow Lucy's blog go to

Ok I realise I have been blabbing on about FSHD bit not really giving and details so here goes

So What is FSHD?

  • Full Steam aHeaD?
  • FreSH iDeas?
  • Fully Secured Holiday Destinations? (That would be nice!)

However it’s none of the above FSHD is a form of muscular dystrophy that apart from having a long name probably has the wrong name. FSHD is an acronym for Facio-Scapulo-Humeral dystrophy. Bizarre-I know! Facio means face, scapulo means shoulder blades and humeral means arms (not humorous, which would have been much better- having a disease that makes you laugh). Unfortunately for many of us the condition is not limited to the face, shoulder and arms, it includes legs, abdominal muscles and neck. I guess those that named the condition ran out of steam.

So what actually is FSHD???

Well, it is a muscular dystrophy that usually commences in adolescence. Over time it causes weakness and wasting of the muscles. There is currently no treatment or cure. Weakness of the face muscles means that gradually a person with FSHD can loose their ability to smile properly- they can often look sad or cross without meaning too. This can of course have big psychological effects. They can’t raise their arms above their head which makes simple things like washing their hair, reaching for the top shelf difficult, As I mentioned it can affect the neck muscles, making it difficult to hold up their head. It affects tummy muscles giving them a pot belly (terrible to look pregnant when you’re not!) Perhaps most devastatingly, it can affect the legs. This gives a foot drop which means they often need to wear a leg brace (no Jimmy Choo shoes for us!) and may ultimately end up in a wheelchair.

FSHD is complicated disease that presents differently in every person. This is however intriguing to researchers and there is currently much excitement, in the scientific community. The FSHD-Global Research foundation is funding an unprecedented amount of research into FSHD, which is very exciting for those of us with the disease. Research is expensive though and requires a lot of money. You can support FSHD research by donating at the website at FSHD, or sending someone a gorgeous chocolate bouquet from Better Than Flowers. Watch out for new fundraising ventures with Australias Biggest Book Group relaunching in November, Champagne on Thursdays and a chocolate ball next year.

That’s all for now

Keep happy, well and if you must, scoff some chocolate


Thanks Lucy for the easy to read explanation - good luck to the Global Research Foundation & your "Better Than Flowers" venture! Wish you were here in the Northwest!


123 Days and Counting

Our annual event is only 123 days away.... time moves fast from here on till the auction. Every day I need to contact past donors to ask for their continued support & ask them to donate to this year's event. Since I really don't like being on the phone this is a bit of a challenge for me. To be able to raise the funds necessary to get another researcher interested in FSH research or support FSH research that is in need of additional funding, I must make the calls & get people to attend the event.

A big development occurred last week - the Hyatt in Bellevue has just completed a new tower complete with a new Grand Ballroom - they gave us the opportunity to move into the new space for this year's auction!! The new space it is amazing - tall ceilings with huge glass chandeliers. This should be a chance for us to hold an amazing event full of elegance & wonderful foods, at a reasonable price.
Our prior issues with poor lighting & crowding should be corrected in this new space.

Monday, September 28, 2009

Gmail - Press Release Ready for Circulation:Please get the word out any way you can today. -

The "Wibbey" Award Gala ~

Eastside Women in Business Event - Queen of Hearts Gala Coming Soon!!

Friends of FSH Research have been honored by this organization to be named the charity partner for this year's Queen of Hearts gala. Proceeds from this event will help to support important Facioscapulohumeral Muscular Dystrophy research. Read complete details in new press release!

Learn more about this organization at