Monday, January 30, 2012

Need muscle for a tough spot?

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

Friends of FSH Research


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

Thank You!
Your Generous Support Made the Difference!!

The UW All Star Jazz Quartet featuring
Michael Brockman


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

Our Auctioneer David Silverman and Emcee Wendy Boglioli
for making our event fun, engaging and wildly successful!
to our fabulous volunteers
We could not have done this without you!

Sunday, January 22, 2012

Teams closing in on gene behind FSHD - FierceBiomarkers

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

Teams closing in on gene behind form of muscular dystrophy


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

Saturday, January 21, 2012

DUX4 Causes Muscle Mayhem in FSHD

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.

Wednesday, January 18, 2012

Kirkland Family Raises Funds for FSH Research

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.

Tuesday, January 17, 2012

Joel Chamberlain RNAi Update

Joel Chamberlain RNAi Update - Read about this research

Cell pathway

2010 Collaborative Grant - An Effective Means of Utilizing Limited Funds

Collaborative Grant to University of Washington

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.

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.

Monday, January 16, 2012

Facioscapulohumeral muscular dystrophy: New diagnostic strategies

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.

Sunday, January 15, 2012

Friends of FSH Research Funded Project

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

Thursday, January 12, 2012

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

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

Wednesday, January 11, 2012

Discovery Could Lead to an Exercise Pill - Technology Review

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.

Sunday, January 1, 2012

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

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.