Pacific Northwest Friends of FSH Research

New "DNA Combing" Test for FSHD

noreply@blogger.com (fshfriends) — Mon, 16 Apr 2012 17:13:00 +0000

Biotech company Genomic Vision just announced the release to market of a new method of testing for FSHD. The test uses molecular combing technology that stretches DNA and affixes it to a treated glass surface. The DNA can then be analyzed using FSHD-specific software.

"Current diagnostic methods are laborious and provide results that are difficult to interpret," says Dr. Pierre Walrafen, project manager at Genomic Vision.

The methods Dr. Walrafen refers to are less accurate owing to the complications inherent in the causes of FSHD, and the new test will hopefully improve accuracy and effectiveness in testing for FSHD.

The Timone hospital in Marseille, France, has adopted the technology for regular use--an estimated 300 to 500 patients per year. Prof. Clemens Muller-Reible at the human genetics institute in the Biology Center of the University of Wurzburg is also deploying the method as a beta test.

Core Muscle Exercise For Muscular Dystrophy | LIVESTRONG.COM

noreply@blogger.com (fshfriends) — Sat, 04 Feb 2012 01:23:00 +0000

Core Muscle Exercise For Muscular Dystrophy

Previously, physicians advised patients with neuromuscular diseases to avoid exercise, based on the theory that it might exasperate their condition. No controlled studies have examined this theory. Although research is limited, clinical data suggests that strengthening exercises in combination with aerobic exercise is likely to benefit patients with muscular dystrophy. Consult your doctor before starting an exercise program.

Read more: http://www.livestrong.com/article/554471-core-muscle-exercise-for-muscular-dystrophy/#ixzz1lN7hf7kM

Dr. Stephen Tapscott - Podcast on the MDA's Quest

noreply@blogger.com (fshfriends) — Fri, 03 Feb 2012 02:48:00 +0000

http://quest.mda.org/sites/default/files/Tapscott-S-1-23-12.mp3

Here is a link to a podcast which you might find interesting.
Dr. Tapscott presents his latest information about DUX 4 and thoughts regarding the future possibilities for FSH therapy.

thanks.

Need muscle for a tough spot?

noreply@blogger.com (fshfriends) — Tue, 31 Jan 2012 01:28:00 +0000

Need muscle for a tough spot? Turn to fat stem cells

ScienceDaily (Jan. 30, 2012) — Stem cells derived from fat have a surprising trick up their sleeves: Encouraged to develop on a stiff surface, they undergo a remarkable transformation toward becoming mature muscle cells. The new research appears in the journal Biomaterials. The new cells remain intact and fused together even when transferred to an extremely stiff, bone-like surface, which has University of California, San Diego bioengineering professor Adam Engler and colleagues intrigued. These cells, they suggest, could hint at new therapeutic possibilities for muscular dystrophy.

Thanks for the Great Event - January 28th

noreply@blogger.com (fshfriends) — Tue, 31 Jan 2012 01:20:00 +0000

Friends of FSH Research

THANK YOU!!

You, the many friends of FSH research, raised $161,500 on January 28th!

Thank You!

Your Generous Support Made the Difference!!

THANK YOU!!

The UW All Star Jazz Quartet featuring

Michael Brockman

and

THANK YOU!

THE OFFENDERS

for spinning the tunes of the '60s & '70s

THANK YOU

Our Auctioneer David Silverman and Emcee Wendy Boglioli

for making our event fun, engaging and wildly successful!

THANK YOU

to our fabulous volunteers

We could not have done this without you!

Teams closing in on gene behind FSHD - FierceBiomarkers

noreply@blogger.com (fshfriends) — Mon, 23 Jan 2012 01:16:00 +0000

Teams closing in on gene behind form of muscular dystrophy - FierceBiomarkers

Teams closing in on gene behind form of muscular dystrophy

January 18, 2012 — 6:44am ET | By Suzanne Elvidge

TOOLS

While exactly which gene actually causes facioscapulohumeral muscular dystrophy (FSHD), the third most common inherited form of dystrophy, isn't clear, researchers at the Fred Hutchinson Cancer Research Center are looking at the gene for the DUX4 transcription factor as a potential candidate.

The symptoms of FSHD affect the upper body and can start with eyelid drooping and inability to whistle. People then develop arm and upper body weakness, and this can even affect walking if the symptoms are severe. Fortunately, for most people, the disability is minor.

When the researchers looked at muscle cells, the DUX4 genes were active in the cells from people with FSHD but not in the cells from healthy people, which suggests that changes in this gene could contribute to causing the disease—the evidence of the genetic link was described by one of the researchers as "about as strong of evidence as you can get."

"This study is a significant step forward by solidifying that the DUX4 transcription factor causes this disease, while offering a number of viable mechanisms for why the muscle is damaged," said corresponding author Dr. Stephen Tapscott, Ph.D., a member of the Hutchinson Center's Human Biology Division.

The identification of this biomarker could lead to possible diagnostics for FSHD, both to identify the disease and to check its progression, as well as support for the development of drugs to treat the disorder. Because DUX4 is also linked with cancer, its identification could also help the development of cancer immunotherapies and vaccines.

- read the press release

Read more: Teams closing in on gene behind form of muscular dystrophy - FierceBiomarkers http://www.fiercebiomarkers.com/story/teams-closing-gene-behind-form-muscular-dystrophy/2012-01-18#ixzz1kEvj9wbQ
Subscribe: http://www.fiercebiomarkers.com/signup?sourceform=Viral-Tynt-FierceBiomarkers-FierceBiomarkers

DUX4 Causes Muscle Mayhem in FSHD

noreply@blogger.com (fshfriends) — Sat, 21 Jan 2012 16:49:00 +0000

DUX4 Causes Muscle Mayhem in FSHD | Quest Magazine Online

Article Highlights:

A multicenter research team has provided specific evidence that inappropriate production of DUX4 in muscle is a major contributor to FSH dystrophy.
DUX4 disrupts numerous biochemical pathways in muscle, interfering with the ability of muscle cells to develop and thrive.
Interfering with DUX4 is a promising strategy for the treatment of FSHD.
Measuring DUX4-related biochemical changes in the body could provide researchers with new biomarkers with which to follow disease progression and response to treatment.

Kirkland Family Raises Funds for FSH Research

noreply@blogger.com (fshfriends) — Thu, 19 Jan 2012 03:47:00 +0000

Kirkland Weblog

Kirkland Family Raises Funds for FSH Research

Terry Colella has lived in the same Kirkland home since 1980. But in 2004, everything changed when her son, Brian, was diagnosed with FSH (Facioscapulohumeral Muscular Dystrophy) and they turned from your typical Kirkland family looking forward to college and grandchildren, into one of fundraisers. What they discovered was that very few researchers were studying this condition due to lack of funds and its complexity. This family does not sit and ponder. Now they head up a non-profit charity,Friends of FSH Research, and raise money for research.

They have raised more than $1.5M from their home-based charity with a volunteer crew. Today, researchers at the Fred Hutchinson Research Center and the University of WA are leaders in FSH research and are working in collaboration with researchers in the Netherlands and Rochester, NY as a result of their funding and support.

Please consider joining the Colellas for the 8th annual gala auction event to benefit FSH on January 28th at 5pm/Bellevue Hyatt. There will be a silent auction, champagne/appetizers, 4 course gourmet dinner with wine and a live auction led by auctioneer David Silverman. 1976 Gold Medalist Wendy Boglioli will be emcee for the evening. And local band The Offenders will be playing after the auction so don't forget your dancing shoes! Tickets are $110/per person and parking is free. 100% of the proceeds from the event go towards supporting FSH research. Purchase online or call 425-827-8954.

January 18, 2012 in Kirkland Events , Kirkland General Topics, Kirkland Health and Fitness | Permalink | Comments (0) | TrackBack (0)

Joel Chamberlain RNAi Update

noreply@blogger.com (fshfriends) — Wed, 18 Jan 2012 02:06:00 +0000

Joel Chamberlain RNAi Update - Read about this research http://www.fshfriends.org/Education/News/news00043.html

2010 Collaborative Grant - An Effective Means of Utilizing Limited Funds

noreply@blogger.com (fshfriends) — Tue, 17 Jan 2012 17:11:00 +0000

Collaborative Grant to University of Washington

Researcher to Speed Therapy Development for FSH Dystrophy

Although this is the news about a jointly-funded project in 2010-2012, it is out hope that more collaboration between funding groups will happen in the coming years. It is an effective way to stimulate new projects, increase awareness of a condition and maximize our funds. Here is one example of how groups can work together effectively.

T.C.

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

TUCSON, Ariz., and KIRKLAND, Wash., April 5, 2010 ─ The Muscular Dystrophy Association (MDA), headquartered in Tucson, Ariz., and Friends of FSH Research (FFSHR), based in Kirkland, Wash., today jointly awarded a two-year, $200,000 grant to Joel Chamberlain, 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 forfacioscapulohumeral muscular dystrophy.

“We’re delighted to be funding this cutting-edge research aimed at finding a therapy for FSH dystrophy,” says Valerie Cwik, MDA Executive Vice President – Research and Medical Director. “Not only might this project identify the precise molecular cause of FSHD — which has eluded us — but it could also rapidly suggest a viable therapeutic approach to the disease.”

Last fall, MDA and FFSHR teamed up to issue a worldwide request for applications (RFA) for projects targeting the identification, prioritization and/or validation of molecular targets for potential therapies for FSH dystrophy. The goal is to stimulate a new wave of innovative FSH dystrophy research to help people affected by the progressive neuromuscular disease, which can cause weakness in the upper body, lower leg, hip or abdominal muscles; hearing loss; and retinal eyesight, heart or respiratory muscle abnormalities.

“Our RFA is proving to be a strong catalyst for vital research,” notes Terry Colella, FFSHR President. “We’re creating new momentum in the field of FSH dystrophy research and Dr. Chamberlain’s work should quickly bring us closer to a much needed therapy or cure.”

The Chamberlain project will focus on the recently discovered biological process, called RNA interference (RNAi), that cells normally use to fine-tune the levels of proteins that carry out body functions. “We’re developing ways to harness the potential for directed RNAi to turn off production of specific proteins in muscle that are thought to cause FSH dystrophy,” explains Chamberlain. “Thanks to funding from MDA and Friends of FSH Research, we soon should be ready to target promising therapies to attack this disease.”

A second notable FSH research project also was identified as a result of the joint RFA distributed by MDA and FFSH Research. That meritorious project, led by Silvere van der Maarel at Leiden University Medical Center in the Netherlands, is being funded by MDA and will use a slightly different approach (antisense oligonucleotides) to develop potential treatments for FSH dystrophy.

Leveraging Prior Insights

The exciting new initiatives will benefit from decades of FSH dystrophy research seeking the elusive genetic cause of FSH dystrophy and defining the varied course of the disease. Notable advances made by investigators benefiting from MDA’s more than $16 million investment in FSH dystrophy research since 1987 include:

mapping the genetic mutation causing FSH dystrophy to a small region near one end of chromosome 4;
determining that many genes are incorrectly regulated in muscles affected by FSH dystrophy;
finding that abnormal DNA in the disease-associated region of chromosome 4 inappropriately activates gene expression in FSH dystrophy; and
discovering that an unusual looping of chromosome 4, marked by an abnormally short D4Z4 region, has widespread consequences for gene regulation in FSH dystrophy.

About Friends of FSH Research

Friends of FSH Research was formed by the family and friends of Brian Colella, who was diagnosed with facioscapulohumeral dystrophy, or FSHD, in 2004. As an independent, 501(c)(3) nonprofit tax-exempt organization, the organization’s goal is to raise money to help fund researchers trying to decode the genetic mysteries of FSHD so that a treatment or cure can be developed.

Friends of FSH Research was created because there is a need for additional funds for FSHD research. To stimulate new research and support for current researchers in this field, it was essential that a fundraising organization be founded. Friends of FSH Research is excited by the opportunity to help those affected by this disabling condition by funding scientists researching FSHD, and we feel very lucky to have established a partnership with the Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center at the University of Washington.

About MDA

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. The Association, which maintains a network of more than 200 hospital-affiliated clinics nationwide, also provides comprehensive health care and support services, advocacy and education.

Founded in 1950, MDA is the nation’s largest nongovernmental funder of research seeking treatments and cures for more than 40 neuromuscular diseases, including muscular dystrophy, amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), Charcot-Marie-Tooth disease (CMT), and Friedreich’s ataxia (FA).

The first nonprofit organization to be recognized with a Lifetime Achievement Award from the American Medical Association (“for significant and lasting contributions to the health and welfare of humanity”), MDA’s annual investment in research exceeds $40 million.

Thanks to decades of generous contributions from caring individuals, plus outstanding support received from local, regional and national sponsors, MDA is credited for its role in building the entire field of neuromuscular disease research, while simultaneously nurturing clinical care to significantly improve both quality and length of life for those affected by neuromuscular diseases.

Facioscapulohumeral muscular dystrophy: New diagnostic strategies

noreply@blogger.com (fshfriends) — Mon, 16 Jan 2012 17:35:00 +0000

Facioscapulohumeral muscular dystrophy: New diagnostic strategies for complicated cases

The diagnosis of FSHD is usually straightforward because the muscle groups are affected in a very specific pattern. However, some patients may have symptoms that superficially resemble FSHD, but is actually a different condition. Even the most experienced clinician can sometimes be fooled by such 'look-alike' cases.

Read the entire article to learn more.

Friends of FSH Research Funded Project

noreply@blogger.com (fshfriends) — Sun, 15 Jan 2012 19:30:00 +0000

Friends of FSH Research Funded Projects in Tapscott Lab at FHCRC

Major advances in research over the last two years have determined that FSHD is caused by the aberrant expression of the DUX4 gene in skeletal muscle. DUX4 is normally expressed in germline cells and early development, but tissues in the adult completely suppress the expression of DUX4. In FSHD the suppression is incomplete and DUX4 is expressed in mature skeletal muscle. Recent work in the Tapscott lab has shown that DUX4 normally regulates the expression of germline and stem cell genes and that the mis-expression of DUX4 in skeletal muscle activates that expression of these early developmental genes. Work recently funded by Friends of FSH Research will use these findings to develop the components necessary to identify drugs that prevent the DUX4 expression and/or DUX4-induced damage in muscle cells. The Tapscott lab plans to develop several ways to measure DUX4 expression and toxicity, and then perform tests to see how well each can be used for a large-scale screen of possible drugs. As the tests are validated it is anticipated that pharmaceutical companies might adopt them to screen their extensive libraries of drug-like compounds.

— Stephen Tapscott

Research team discovers genes and disease mechanisms behind a FSH muscular dystrophy

noreply@blogger.com (fshfriends) — Thu, 12 Jan 2012 17:59:00 +0000

Research team discovers genes and disease mechanisms behind FSHD Muscular Dystrophy - Seattle Researchers!

Support to Friends of FSH Research IS making a difference!!! Please consider making a donation today!!

SEATTLE – Continuing a series of groundbreaking discoveries begun in 2010 about the genetic causes of the third most common form of inherited muscular dystrophy, an international team of researchers led by a scientist at Fred Hutchinson Cancer Research Center has identified the genes and proteins that damage muscle cells, as well as the mechanisms that can cause the disease. The findings are online and will be reported in the Jan. 17 print edition of the journal Developmental Cell.

The discovery could lead to a biomarker-based test for diagnosing facioscapulohumeral muscular dystrophy (FSHD), and the findings have implications for developing future treatments as well as for cancer immunotherapies in general.

The work establishes a viable roadmap for how the expression of the DUX4 gene can cause FSHD. Whether this is the sole cause of FSHD is not known; however, the latest findings "are about as strong of evidence as you can get" of the genetic link, said corresponding author Stephen Tapscott, M.D., Ph.D., a member of the Hutchinson Center's Human Biology Division.

Tapscott and colleagues sought answers to the questions about what the DUX4 protein does both normally in the body and in the FSHD disease process. In the latest study, they identified that the DUX4 protein regulates many genes that are normally expressed in the male germ line but are abnormally expressed in FSHD muscle. Germ line cells are inherited from parents and passed down to their offspring.

"This study is a significant step forward by solidifying that the DUX4 transcription factor causes this disease, while offering a number of viable mechanisms for why the muscle is damaged," Tapscott said. Transcription factors are tools that cells use to control gene expression. Genes that are "turned on" in the body are "transcribed," or translated, into proteins.

Now that scientists know that targets for DUX4 are expressed in skeletal muscle, an antibody- or RNA-based test could be developed to diagnose FSHD by examining muscle tissue from a biopsy, Tapscott said. Such biomarker-based tests also could be used to determine how well new treatments are working to suppress FSHD.

The study also discovered that DUX4 regulates cancer/testis antigens. Cancer/testis antigens are encoded by genes that are normally expressed only in the human germ line, but are also abnormally expressed in various tumor types, including melanoma and carcinomas of the bladder, lung and liver.

"This knowledge now gives us a way to manipulate the expression of cancer/ testis antigens, potentially opening the opportunity to use these antigens in a cancer vaccine," Tapscott said.

Two papers published in 2010 by the same group of researchers established the genetic basis for showing that expression of DUX4 was necessary for the disease. The previous research also identified the RNA in the FSHD muscles and showed that it was normally expressed in the germ line, which led to the hypothesis that the lack of an efficient developmental repression of this RNA caused the disease.

###

In addition to Tapscott and other Hutchinson Center researchers, scientists from Leiden University Medical Center in Leiden, The Netherlands; University of Washington; Genentech; and the University of Rochester contributed to the study.

The research was supported by grants from the National Institute of Arthritis and Musculoskeletal and Skin Diseases, the National Institute of Neurological Disorders and Stroke, and Friends of FSH Research.

At Fred Hutchinson Cancer Research Center, our interdisciplinary teams of world-renowned scientists and humanitarians work together to prevent, diagnose and treat cancer, HIV/AIDS and other diseases. Our researchers, including three Nobel laureates, bring a relentless pursuit and passion for health, knowledge and hope to their work and to the world. For more information, please visit fhcrc.org.

Discovery Could Lead to an Exercise Pill - Technology Review

noreply@blogger.com (fshfriends) — Thu, 12 Jan 2012 01:38:00 +0000

Discovery Could Lead to an Exercise Pill - Technology Review

Researchers have discovered a natural hormone that acts like exercise on muscle tissue—burning calories, improving insulin processing, and perhaps boosting strength. The scientists hope it could eventually be used as a treatment for obesity, diabetes, and, potentially, neuromuscular diseases like muscular dystrophy.

More news coming that may be of help to those with neuromuscular disorders.

DUX4 Activates Germline Genes - Research Supported by Friends of FSH Research

noreply@blogger.com (fshfriends) — Sun, 01 Jan 2012 23:02:00 +0000

Developmental Cell - DUX4 Activates Germline Genes, Retroelements, and Immune Mediators: Implications for Facioscapulohumeral Dystrophy

Previous work by Tapscott's lab (Snider, et al., 2010) showed that the DUX4 gene is normally expressed in germline cells of the human testes and is not normally expressed in other tissues in the adult, whereas in both FSHD1 and FSHD2 small amounts of DUX4 are expressed in muscle cells. In a new study recently published in the journal Developmental Cell, the research group identified genes that are regulated by DUX4 and detected the expression of these genes in FSHD muscle, "providing direct support for the model that misexpression of DUX4 is a causal factor for FSHD." This publication demonstrates that the low levels of DUX4 expressed in FSHD muscle has a domino effect, activating many genes. This allows for the identification of several biomarkers to track the progress of FSHD, and to determine the efficacy of treatment. In addition, the genes regulated by DUX4 suggest several mechanisms for the loss of muscle strength in FSHD and these can be tested as candidate targets for new therapies. This is a major turning point, both identifying how DUX4 damages muscle in FSHD as the basis for developing therapies, and also a providing a set of biomarkers to easily determine if candidate therapies are actually working.

Refer to the Developmental Cell article.

Advances in FSHD Research

noreply@blogger.com (fshfriends) — Tue, 29 Nov 2011 17:36:00 +0000

New advances in FSHD research | The Leaders in FSHD research Today!

On November 7 and 8, eighty scientists met in Boston, Massachusetts, to share the latest results from their research on facioscapulohumeral muscular dystrophy (FSHD). This conference is hosted annually by the American . Andreas Leidenroth, a Muscular Dystrophy Campaign-funded PhD student researching FSHD in Nottingham, attended the conference and here he reports on two important highlights presented at the meeting.

The highlights mentioned by this researcher are those achieved by researchers Friends of FSH Research has worked closely with since 2006!

Read this report - Dr. Tapscott and the Seattle FSH Research group has worked in collaboration with the researchers in Leiden for many years.

Friends of FSH Research has held an annual FSH workshop bringing these groups together & urging strong collaborative efforts in order to speed up the progress of FSH research.

Make a donation to Friends of FSH Research Today!

It DOES make a difference.

Meeting with Bill Moss

noreply@blogger.com (fshfriends) — Fri, 25 Nov 2011 20:51:00 +0000

Video Discussion with Bill Moss

Here is a personal look at Bill Moss - in his own words.
Mr. Moss has become a leader for those with FSH Muscular Dystrophy - putting his influence to help move this research forward worldwide.

Grants & Gala - Support FSH Research

noreply@blogger.com (fshfriends) — Thu, 17 Nov 2011 21:32:00 +0000

Thank You!! (click here to see November news)

Your past support has been critical to the stimulation of new interest in Facioscapulohumeral (FSH) research. You have helped to attract research scientists and to fund novel FSH projects that have expanded the world's understanding of the mechanisms at work in this form of Muscular Dystrophy.

Our 8th annual charity gala is dedicated to YOU, our community.

The dinner and auction will be held at the Bellevue Hyatt on January 28th. The theme of this year's gala, "With a Little Help from Our Friends," honors our community and its generous support.
We invite you to join with us as we celebrate our successes and your partnership.

Progress has been made! We will need your continued support to achieve our next goal, the development of an effective therapy for FSH Muscular Dystrophy.

FSHD Europe: The European voice of people with FSHD

noreply@blogger.com (fshfriends) — Tue, 08 Nov 2011 19:01:00 +0000

FSHD Europe: The European voice of people with FSHD

The European FSHD advocacy groups have joined together - here is their newly developed website.

We are pleased that the video Friends of FSH Research produced is presented on their learning about FSHD page.

Working together we will find a treatment or cure for FSHD.

PLOS Research Report - FSHD

noreply@blogger.com (fshfriends) — Sat, 05 Nov 2011 18:42:00 +0000

Scientific Publications Explained

Title: The FSHD Atrophic Myotube Phenotype Is Caused by DUX4 Expression

Authors: Vanderplanck C, Ansseau E, Charron S, Stricwant N, Tassin A, Laoudj-Chenivesse D, Wilton SD, Coppée F, Belayew A.

Publication date and journal: 28 Oct 2011 in PLos One

This work was done by the group of Alexandra Belayew in Mons, Belgium, in collaboration with Dalila Laoudj-Chenivesse from Montpellier, France, and Professor Steve D. Wilton from Perth, Australia, who does much work with exon skipping in Duchenne. Muscle cells of healthy individuals cultured in the laboratory in which DUX4 was introduced were much thinner (atrophic) than muscle cells without active DUX4. (Such thin muscle cells are seen in FSHD.) A number of genes characteristic for the diseased muscle were also found to be activated (Atrogin1, MuRF1, CRYM and TP53). These genes may be used to measure the effect of drugs.

Next, the researcher developed siRNA molecules against DUX4 (these are molecules that cause degradation of the DUX4 messenger RNA so no more DUX4 protein is made). Muscle cells cultured in the laboratory with active DUX4 which were treated with this anti-DUX4 siRNA were less thin 8 days after treatment than untreated muscle cells. They made less DUX4 and TP53 proteins. Antisense Oligonucleotides (AOs) were then developed against DUX4. This is a different kind of anti-molecule which is used for exon skipping in Duchenne. Muscle cells from people with FSHD cultured in the laboratory and treated with a low concentration of anti-DUX4 AOs had less DUX4 and TP53, without much effect on DUX4c, a gene similar to DUX4 which probably has an important function in the human body.

The group of Alexandra Belayew and other research groups worldwide are now working on developing DUX4 mouse models to test whether these anti-DUX4 molecules can slow, stop or hopefully even improve the health of diseased animals.

Click on "PLOS ONE" to read complete study report

Thank You for Being a Friend

noreply@blogger.com (fshfriends) — Sat, 05 Nov 2011 03:27:00 +0000

After tough voting in a facebook contest, our charity Friends of FSH Research won $5,000 from the Toyota of Kirkland dealership. Thanks to all the voters that took the time to “like” our charity, we were the top vote getters and the winners of this grant from Toyota.

Our charity auction’s theme this year is “With a Little Help from Our Friends.” Though it might be a song with some questionable references, for us it is a song that celebrates friends. It has taken the support of many friends to push our mission forward toward finding a treatment or cure for FSH Muscular Dystrophy. And now, our circle of friends just got bigger – thank you Toyota of Kirkland for being a friend!

Good Search for FSH Research

noreply@blogger.com (fshfriends) — Wed, 19 Oct 2011 17:17:00 +0000

This is going to be the easiest thing we’ve ever asked you to do!

We just signed up with GoodSearch.com and now every time you shop online or search the internet, a donation will be made to Friends of FSH Research.

Here’s how:

GoodShop.com works with more than 2,500 stores (including Target, Apple, Petsmart etc..) and every time you purchase something, a percentage will be donated to us! And, even more exciting, GoodShop also offers over 100,000 of the most up-to-date coupons and free shipping offers so you can save money at the same time. It’s win win.

GoodSearch is a Yahoo powered search engine which makes a donation to us each time you do a search.

“Become a Supporter” button

Join the rest of our community in using these sites to help us easily raise money for our mission. Get started by clicking the Good Search information

on our website!

Whooping Cough - Risk to the Vulnerable

noreply@blogger.com (fshfriends) — Mon, 10 Oct 2011 18:30:00 +0000

Whooping Cough (or Pertusis) is on the rise. As vaccines seem to lose effectiveness over time, adults need Pertusis booster every 10 years. Whooping Cough, also known as the 100 day cough, may not have serious consequences for healthy people but this condition can be life threatening for infants or vulnerable individuals. Get immunized!!

14 percent increase in WA whooping cough cases

www.king5.com

The Washington state Health Department says 431 cases have been reported so far this year, compared with 378 at this time last year.

Collaborating Research Teams - Progress toward FSH Treatment

noreply@blogger.com (fshfriends) — Sat, 27 Aug 2011 19:05:00 +0000

Two research teams make steps towards a treatment for FSH

Two research papers published in the past month by researchers in Italy and the US have shown that it is possible to reverse the symptoms of facioscapulohumeral muscular dystrophy (FSH) in a mouse model using a gene therapy approach. The techniques used may also be applicable to other dominantly inherited muscle conditions such as myotonic dystrophy, oculopharyngeal muscular dystrophy (OPMD), Charcot-Marie-Tooth disease and some types of limb girdle muscular dystrophy, congenital muscular dystrophy and congenital myopathy.

Background information

FSH is caused by changes to a region of DNA on chromosome 4 called D4Z4 that has the same piece of DNA code repeated many times. In healthy individuals the number of repeats varies between 11 and 100. People with FSH have less than 11 repeats. Until recently scientists have struggled to understand how this caused the symptoms of the condition.

Recent research demonstrated that the repeated section of DNA contains a gene called DUX4 and the reduction in the number of repeats on D4Z4 changes the way this piece of DNA is folded. This results in the DUX4 gene being switched on and the DUX4 protein being produced which is toxic to the muscle.

Although this is currently the most widely accepted theory about the underlying mechanism causing FSH, previous research has also shown that neighbouring genes such as one called FRG1 may also be involved. It has been proposed by some researchers that FRG1 is switched on in FSH which is toxic to the muscles. The importance of FRG1 in causing the symptoms of FSH in humans is still controversial though, because it hasn't been proven beyond doubt that it is involved.

What did the research show?

This research took advantage of natural processes in the body which regulate which genes are switched on and which are off. When a gene is 'switched on', RNA 'photocopies' of the gene's code are made. The RNA moves outside the nucleus where they direct the manufacture of proteins. DNA can be thought of as a recipe book in the library that you can't take out. RNA is a photocopy of a recipe that you can take home to cook something in your kitchen (making the protein).

The new potential therapies involve switching off a gene so that the RNA copy is not made. This is called "RNA interference" or "gene silencing". It involves introducing into the cell tiny pieces of genetic material called "micro RNA" or "short hairpin RNA" that are designed to specifically switch off a particular gene. Although the strategy was similar in the two studies, the design of the microRNA was different.

Both research groups tested their new potential therapy in the only available mouse model for FSH - the FRG1 mouse. These mice have increased levels of FRG1 and develop muscle wasting and weakness.

Adeno-associated viruses (AAV) were used to deliver micro RNA that was designed to switch off the FRG1 gene into the cells of the mice. AAV is currently the most attractive candidate for gene therapy because it is not known to cause any severe disease in humans and is capable of infecting many different cell types including muscle cells.

Both studies reported that after the RNA interference treatment, the mouse muscles not only looked healthier under a microscope but their muscle size and strength was improved. For example in one study they measured how long the mice could run on a treadmill before they got tired. Untreated 12-week-old mice could only run for about 15 minutes whereas those that had been treated with the RNA interference were able to run for almost 25 minutes; on a par with healthy mice. One of the studies also included extensive toxicity monitoring and they concluded that the treatment appeared to be safe in mice.

What does this mean for FSH patients?

This research is exciting because it proves the principle that RNA interference is a promising therapeutic approach for FSH. One of the challenges of treating any muscle condition is to deliver the drug to all of the muscles of the body which make up a large proportion of our body mass. These studies were able to show that it is possible deliver the RNA efficiently to the muscles using a virus and this had a positive effect on muscle function.

Whether FRG1 is the correct target for a FSH therapy is still uncertain and more research is required to understand its role. However, the authors of these studies said that this technology could easily be applied to other target genes such as DUX4. Researchers are currently working to develop a DUX4 mouse model that would allow this to be tested.

RNA interference is very new technology and although there have been promising results from animal models, in particular for neurodegenerative conditions, no drugs have reached the clinic yet. Therefore, it may be several years before it is ready for testing in patients.

This strategy is similar to the exon skipping that is in clinical trial for Duchenne muscular dystrophy. Both strategies involve delivering small pieces of genetic material to change the way genes function. The difference is that for Duchenne muscular dystrophy a gene is repaired, whereas with for FSH a gene is switched off. The recent positive results in the Duchenne clinical trials will spur on researchers working on this strategy and inform them on ways to move this therapy forward to the clinic.

What about other conditions?

It is only in recent years that scientists have started to understand more about how genes are switched off which has opened up the prospect of treating conditions that result in the production of harmful RNA or protein.

RNA interference could potentially be used to treat many other muscle conditions where the faulty gene has toxic effects on the muscle or interferes with the functioning of other healthy genes. These conditions are inherited in an "autosomal dominant" way, which means that only one faulty gene, inherited from either parent, is required to cause the condition.

Examples include myotonic dystrophy, oculopharyngeal muscular dystrophy (OPMD), Charcot-Marie-Tooth disease and some types of limb girdle muscular dystrophy, congenital muscular dystrophy and congenital myopathy. However, each affected gene will need to be looked at on a case by case basis, and researched in the laboratory before it can decided if it could possibly be amenable to RNA interference.

Considerable research has already been done in a mouse model of myotonic dystrophy using small pieces of DNA. Although closely related, that research was not the same as RNA interference. It involved blocking the interaction between RNA and proteins, rather than switching off the production of the RNA in the first place, which would be the case with RNA interference. So RNA interference adds another line of attack to the potential therapies currently being researched for myotonic dystrophy.

Article cited from: http://www.muscular-dystrophy.org/

Funding for Davide Gabelini's work provided by Muscular Dystrophy Campaign, UK

Big Stories - No Takers

noreply@blogger.com (fshfriends) — Mon, 15 Aug 2011 20:37:00 +0000

It is perplexing how to get today's news organizations to pick up and share stories with their readers.....As a small, non-profit we have helped to fund research that is making major breakthroughs yet, the Seattle public has no idea that this work is being done in their own backyard. Last year researchers here (at the Hutch & UW) in collaboration with scientists in the Netherlands & Rochester, NY made a huge breakthrough in Facioscapulohumeral (FSH) Muscular Dystrophy research - it made news in New York, being a featured story in the New York Times yet, Seattle readers were left in the dark.

It is amazing the progress we have made - functioning from our home on a "all volunteer" basis without getting the support from our local press. Yet, our organization Friends of FSH Research (www.fshfriends.org) has been able to raise over a million dollars for FSH research and has helped launch pilot projects which generated new data, their findings which earned the respect and funding from the National Institutes of Health.

Facioscapulohumeral (FSH) Muscular Dystrophy, today believed to be the most common form of Muscular Dystrophy, (who knew that there are more than one form?) has received little research support in the past from the existing funding sources. This condition impacts the lives of those affected throughout their life span - causing a weakening then ultimately the death of the muscles of the upper back, upper arms and face. Eventually the muscle destruction extends into the muscles of the lower legs and trunk .... it is an unforgiving condition. Not a sexy condition, not one which attracts media attention... one often overlooked, forgotten.

Friends of FSH Research proves the "Power of One" - one family, one love for their child. We would not have been able to succeed without the internet, social media and the community. This is one story that has not yet been helped by traditional media - though I am still hopeful that one day they will pick up our story for I think it is one worthy of telling.

Pacific Northwest Friends of FSH Research

New "DNA Combing" Test for FSHD

Core Muscle Exercise For Muscular Dystrophy | LIVESTRONG.COM

Dr. Stephen Tapscott - Podcast on the MDA's Quest

Need muscle for a tough spot?

Thanks for the Great Event - January 28th

Teams closing in on gene behind FSHD - FierceBiomarkers

Teams closing in on gene behind form of muscular dystrophy

DUX4 Causes Muscle Mayhem in FSHD

Kirkland Family Raises Funds for FSH Research

Kirkland Family Raises Funds for FSH Research

Joel Chamberlain RNAi Update

2010 Collaborative Grant - An Effective Means of Utilizing Limited Funds

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

Facioscapulohumeral muscular dystrophy: New diagnostic strategies

Friends of FSH Research Funded Project

Research team discovers genes and disease mechanisms behind a FSH muscular dystrophy

Discovery Could Lead to an Exercise Pill - Technology Review

DUX4 Activates Germline Genes - Research Supported by Friends of FSH Research

Advances in FSHD Research

Meeting with Bill Moss

Grants & Gala - Support FSH Research

FSHD Europe: The European voice of people with FSHD

PLOS Research Report - FSHD

Thank You for Being a Friend

Good Search for FSH Research

Whooping Cough - Risk to the Vulnerable

Collaborating Research Teams - Progress toward FSH Treatment

Two research teams make steps towards a treatment for FSH

Contents:

Background information

What did the research show?

What does this mean for FSH patients?

What about other conditions?

Big Stories - No Takers

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