Annual Report 2013
Dr. Stephen Tapscott has labored for years at Fred Hutchinson Cancer Research Center to unravel the mechanisms that drive muscular dystrophy, a condition that steadily deteriorates muscles until they stop functioning.
Last year that work caught the attention of a key partner that could be critical to transforming Tapscott's research into an effective therapy.
Understanding muscular dystrophy can be tricky, because some dystrophies are caused by more than one genetic flaw. Tapscott co-led a team that used new genome-wide technologies to overcome this hurdle and identify two genetic factors behind facioscapulohumeral muscular dystrophy, or FSHD. Specifically, the researchers found that two genetic variants, either on the same chromosome or on two different chromosomes, cause FSHD1 and FSHD2, respectively.
"The presence of these two genetic variants in the same individual causes the body to produce a toxic protein in skeletal muscle and that causes FSHD," Tapscott said. The finding builds on previous years of collaborative research that had shed light on how the genes and mechanisms behind muscular dystrophy work.
The potential of this work was clear to British pharmaceutical company GlaxoSmithKline PLC. In December, GSK partnered with Fred Hutch, which at the time was the company's first agreement with a U.S.-based institution under the company's academic partnership program. The agreement is aimed at developing new therapies that can block production of the FSHD-causing protein.
"GSK has huge expertise in developing agents against protein activity, so our opportunity to work with them is fantastic," Tapscott said. Although a new treatment is the primary goal, Tapscott said the partnership may also lead to new tools for better understanding some types of muscular dystrophy.
The agreement with GSK is one of the most comprehensive collaborations Fred Hutch has entered into with a drug company. Due to waning federal research funding, it's a partnership that will likely be increasingly important to translating Hutch science into lifesaving treatments.
"With GSK's help, Stephen's research has a better opportunity of being translated into a treatment that muscular dystrophy patients currently lack," said Ulrich Mueller, Fred Hutch's vice president of Industry Relations and Clinical Research Support.
Dr. Stephen Tapscott's work is made possible through generous support provided by the Friends of FSH Research and George Shaw.