For those diagnosed with facioscapulohumeral muscular dystrophy (FSHD), there is little solace. FSHD is the third most common muscular dystrophy. No treatment exists, and scientists are only beginning to understand the causes of this disease. Dr. Stephen J. Tapscott, MD, PhD, is a Full Member of the Fred Hutchinson Cancer Research Center Division of Human Biology and a leader in the charge to ﬁnally solve the mysteries of this muscular dystrophy. In collaboration with GlaxoSmithKline (GSK), he’s also trying to ﬁnd a treatment. It is a unique partnership that offers hope for patients.
Tapscott joined Fred Hutchinson Cancer Research Center in 1986 to complete his postdoctoral studies. Clinically trained as a neurologist, he joined Dr. Harold Weintraub’s internationally renowned team of scientists to learn molecular biology. By 1988, the team had isolated the gene MyoD, which plays a key role in muscle differentiation.
“During this time, my clinical work was in neuromuscular and neurogenetic diseases. MyoD was a new molecular tool to help me use myogenesis as a model system to study normal development and muscular dystrophy,” said Tapscott. In a great loss to science, cancer claimed the life of Weintraub in 1995.
Working with collaborators in Leiden and Rochester, Tapscott’s research helped establish the cause of FSHD in 2010. It had been reported that people with FSHD inappropriately express the gene DUX4 in skeletal muscle and their studies conﬁrmed that the expression of DUX4 was necessary for this disease. This ﬁnding was recognized as a major breakthrough in understanding muscular dystrophy and offered a glimmer of hope for one day treating the disease.
Fred Hutchinson and GSK partner to find muscular dystrophy treatment
The natural partnership between GSK and Fred Hutch emerged as they both share a common passion for ﬁnding treatments for the unmet needs of patients. A former member of Fred Hutch, who joined GSK, moved quickly to introduce the two parties.
Dr. Tapscott’s team needed the help of an industry partner to take their research to the next level where they could turn these discoveries into meaningful treatments for patients. While they chose GSK, the Tapscott Team was not short on interest from industry partners.
The two scientiﬁc teams were able to effectively and efﬁciently decide on the science they wanted to investigate around DUX4. Contract negotiations moved steadily as both sides agreed to focus on transparency, clarity and meeting the needs of both parties.
Working together, the teams are combining the groundbreaking basic science and platform for identifying screening hits that will be reﬁned by GSK medicinal chemistry and developed by team Fred Hutch, while team GSK provides strong clinical development expertise. The goal is to identify drugs that could be effective in interfering with DUX4 and improving the lives of individuals with FSHD.
“This is a wonderful collaboration and similar to an academic collaboration,” said Tapscott. “Experiments are being done at GSK and here in my lab. We speak regularly to share data, critique that data and decide on the next steps. It is a very gratifying process that has expanded the scope of our work on FSHD. Everyone understands the end goal is to improve the lives of individuals with muscular dystrophy.”