Taubman Emerging Scholar Dr. James Dowling makes breakthrough in congenital myopathy research
Dowling and colleagues find new gene mutation associated with congenital myopathy
About 50 percent of congenital myopathy cases currently do not have a known genetic basis, presenting a clear barrier to understanding disease and developing therapy, says James Dowling, M.D., Ph.D., the paper’s co-senior author and assistant professor of Pediatric Neurology at the University of Michigan’s C.S. Mott Children’s Hospital. Finding a new myopathy gene opens the possibility of providing a genetic explanation for disease in these individuals where no genetic cause is currently known.
In addition, “the identification of a new myopathy gene is an essential first step towards understanding why this disease occurs and how we combat its effects.” says Dowling, a Taubman Emerging Scholar who worked with Margit Burmeister, Ph.D. and her team from the University of Michigan’s Molecular and Behavioral Neuroscience Institute to study the new myopathy gene (CCDC78).
Dowling says the gene, which has not been studied previously, is an important potential regulator of muscle function and, in particular, part of an important muscle structure called the triad.
“Many myopathies and dystrophies have abnormal triad structure/function, so finding a new gene product involved in its regulation will help researchers better understand the triad and its relationship to muscle disease,” Dowling says.
Congenital myopathies are clinically and genetically heterogeneous diseases that typically become evident in childhood with hypotonia and weakness. They are associated with impaired mobility, progressive scoliosis, chronic respiratory failure and often early death.
Currently there are no known treatments or disease modifying therapies for congenital myopathies.
The researchers performed linkage analysis followed by whole exome capture and next generation sequencing in a family with congenital myopathy. They then validated the gene mutation and provided insights into the disease pathomechanisms using the zebrafish model system.
Dowling says the researchers’ next step is to further model the disease using zebrafish, in the hopes that this knowledge can be translated into therapy development.
“The study provides the first descriptions of the zebrafish model, and gives insight into how we will use it,” says Dowling, who also is director of the Pediatric Neuromuscular Disorders Clinic at C.S. Mott Children’s Hospital.
“Once we develop and characterize a model of the disease, we can then use it as a platform for therapy development.”
ALS patient feels great after stem cell transplant
Took part in Phase I of Dr. Eva Feldman's human clinical trial
Ted Harada tells Crain's Detroit Business that nearly nine months after receiving stem cell injections to his spinal cord, improvement persists.
The birth of two human clinical trials
The Taubman Institute’s overriding purpose is to discover potential new treatments that can be tested in clinical trials. Watch as two Taubman Scholars explain how they made it happen.
Institute training video helps physicians overseas
U-M exam method for diabetic nerve damage translated to Mandarin Chinese. The Taubman Institute has produced video of an exam protocol that will help doctors in Asia and elsewhere as they grapple with growing diabetes epidemics and the resulting complications.
news & events
- June 14, 2013
- June 05, 2013
- May 31, 2013
Taubman Scholars direct 31 human clinical trials
Science funded by the Taubman Institute has led to 31 current human clinical trials, studying potential therapies for diseases including breast cancer, muscular dystrophy, diabetes and ALS. See the complete list of trials.
People who care
Generous donors fund institute's summer students
Leadership advisory board members fund Tauber Family Student Internship Program
Three future medical scientists will work with Taubman Institute researchers starting in June.
State leaders laud Taubman Institute accomplishments
Leaders of state and local government visited the Taubman Institute on March 18 to tour Taubman Scholar labs and discuss the potential medical research offers for both improving the health of residents and establishing new jobs and businesses in Michigan.