Faculty Scholar: Dr. Robert Baloh - Inherited Neuromuscular Disorders
7/2/2009
Robert Baloh, MD, PhD, returned to his medical roots in 2005, when he accepted a Fellowship in neuromuscular diseases at Washington University School of Medicine. Four years earlier, he had completed Washington University’s Medical Scientist Training Program before heading to Harvard for a medical internship and a residency in neurology.
There, his work and distinguished service as Chief Resident in Neurology at Boston’s Massachusetts General Hospital and Brigham and Women’s Hospital led to offers from many prestigious medical institutions, among them his alma mater, Washington University.
“I chose Washington University primarily because I knew it was a collaborative environment,” said Dr. Baloh. He also liked the breadth of the patient population that is drawn to St. Louis Children’s Hospital and Barnes-Jewish Hospital. “The combination of diverse patients and enthusiastic collaborators makes a great environment for combining clinical experience and research.”
By 2007, Dr. Baloh had been named assistant professor of neurology at Washington University School of Medicine, and had already made a groundbreaking contribution to understanding a mechanism involved in inherited peripheral neuropathy. Peripheral neuropathy is a problem with the nerves that carry information to and from the spinal cord, typically leading to weakness and wasting of the muscles.
In 2008, he was named a Children’s Discovery Institute Faculty Scholar, an award that has enabled him to more rapidly expand his promising work. Since then, Dr. Baloh and his collaborators have amassed a remarkable number of accomplishments.
New mouse models of inherited peripheral neuropathy have been developed to study various disease processes. One of these models, a severe, early-onset form of inherited neuropathy that typically presents during infancy, has indicated different therapeutic strategies that will likely be required for improving weakness in children with this disease.
Additionally, the Washington University Neuromuscular Genetics Project led by Dr. Baloh has collected clinical data and specimens on more than 500 children and adults with inherited neuromuscular diseases. A web-accessible database is under development, which will enable sharing of this resource with other investigators.
“The specimen bank and associated clinical information, including family histories, are vital to developing our understanding of these disease processes,” said Dr. Baloh. He added that the specimens will become even more valuable in the future as analytical technologies continue to be refined.
“The ability to rapidly and inexpensively identify new disease genes will help define molecular pathways that can represent potential therapeutic targets for drug development in inherited neuromuscular diseases.”
Dr. Baloh and his collaborators have used samples from this specimen bank to identify a genetic link to a previously undefined form of spinocerebellar ataxia, a group of disorders characterized by progressive loss of coordination and balance.
A recent development has been expansion of the biospecimen bank to include skin fibroblasts from patients with neuromuscular disease. New technologies enable researchers to turn these fibroblast cells into nerve or muscle cells so that the exact cell types that are affected with certain diseases can be studied in the laboratory.
“Children’s Discovery Institute and Washington University have enabled me to do the kind of research that will benefit my patients by providing laboratory resources that few new faculty members enjoy,” said Dr. Baloh. “I am deeply grateful.”