Charles Emerson, professor of neurology and director of the Wellstone Muscular Dystrophy Program at University of Massachusetts Medical School in Worcester, was awarded an MDA research grant totaling $300,000 over three years, to study the contribution of genes and epigenetic modifications to facioscapulohumeral muscular dystrophy (FSHD) disease processes.
With colleagues, Emerson will work to increase understanding about the underlying molecular processes that determine disease severity, which can vary greatly, in FSHD.
Please describe your current research.
Our project is focused on FSHD, a devastating genetic disease that causes facial and body skeletal muscle weakness, leading to loss of muscle function and mobility.
The goal of our studies is to understand why clinical severity of FSHD is highly variable in light of our current understanding of a common genetic cause for this disease. Our approach is to investigate the molecular expression and functions of FSHD disease genes in skeletal muscles produced from stem cells derived from FSHD patients with early-onset severe infantile disease compared to muscle produced by stem cells derived from FSHD patients with adult-onset mild disease.
We anticipate that studies using this innovative FSHD stem cell model will reveal underlying molecular processes responsible for disease severity to enable identification of new drug targets and development of stem cell and drug therapies designed specifically to reduce or eliminate clinical FSHD disease.
What inspired you to study FSHD?
My early career was focused on basic research until I met a patient with FSHD who inspired me to apply my skills and knowledge of muscle biology to understand his disease and to develop therapeutics.
MDA funds have supported my basic and muscle disease research at various times throughout my career, including support of a number of talented MDA-supported fellows who have continued productive careers in muscle research.
What is your focus in the field of FSHD research and why is it important?
My focus has been on development of human stem cell technologies to model muscle disease and develop stem cell and drug therapeutics.
Although rodent, fly and worm animal models have been useful for investigating disease pathology and drug development for human muscle diseases with simple genetic causes, many complex human genetic diseases, including FSHD, are caused by genetic disruptions that are uniquely present in humans and in some cases other primate genomes. Furthermore, humans have unique muscle biology, genes and proteins that respond to drugs uniquely, requiring testing in humans to establish their safety and effectiveness, which often are not reliably modeled in other animals. Human muscle stem biology provides unique pre-clinical tools to develop and test stem cell and drug therapeutics prior to clinical trial testing in patients.
How will your research lead to treatments and cures?
Understanding the genetic and molecular processes responsible for variability in FSHD clinical severity will enable development of drug targets and stem cell therapeutics to reduce or eliminate clinical disease.
Why is it important that MDA continue to fund research in FSHD?
MDA supports research innovation needed to create breakthroughs for therapeutic development, as well as brings together scientists, fellows and patients to work collaboratively and synergistically, which are essential to solving the complexities of muscle disease and development of therapies.
Does your work have any potential implications for other disease fields?
Human stem cell technologies for FSHD being developed in this project will be widely applicable to other muscle diseases to understand disease pathology and enable drug and stem cell therapeutics.
To learn more about how you can #EndFSHDwithMDA, visit mda.org.