MDA, FFSHR award $200,000 grant for developing FSH dystrophy therapy

The Muscular Dystrophy Association (MDA), headquartered in Tucson, Ariz., and Friends of FSH Research (FFSHR), based in Kirkland, Wash., has jointly awarded a two-year, $200,000 grant to Dr. Joel Chamberlain, a 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 for facioscapulohumeral 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 Friends of FSH Research. That meritorious project, being led by Dr. 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 FSH dystrophy-affected muscle;
• 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.