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James Dowling, MD, PhD

Profile written by Howard Goodkin, MD

James Dowling, MD, PhD

James Dowling, MD, PhD, the 2011 recipient of the Philip R. Dodge Young Investigator Award, credits his experiences as a resident in the Pediatric Neuromusclar Clinic at the Children’s Hospital of Philadelphia for his decision to pursue the scientific and clinical study of neuromuscular disease. In that clinic he was exposed to master clinician investigators such as Richard Finkel, Gihan Tennekoon, and Carsten Bonnemman. Under their careful mentorship, Jim honed his neurological skills and learned of the need for additional clinical investigators to further the development of therapies in this area. Building on the excellence to which he was exposed at CHOP, Jim developed the Multidisciplinary Pediatric Neuromuscular Disorders Clinic at the University of Michigan. This Program now serves several hundred children with a variety of neuromuscular conditions, is recognized as one of the best in its region, and is committed to improving the lives of the children with neuromuscular disease through an active translational scientific and clinical research program.

Jim’s earliest scientific recollection is an extra credit project testing light and dark adaptation in planaria for his 10th grade science class at Central Bucks East High School in Doylestown, PA. As a Medical Scientist Training Program student at the University of Chicago, Jim studied the role of hemidesmosomal components in epidermal and neural development in the laboratory of Dr Elaine Fuchs, a well respected expert in epidermal biology. As part of this work, he generated the first gene knockout mouse model of β4 integrin and provided evidence for its role as a key regulator of epidermal basal cell survival as well as demonstrating a role for this protein in the nervous system. His doctoral thesis received the University of Chicago’s coveted Harold Lamport Award given to the single student with the most outstanding thesis. This thesis work resulted in two highly cited and important first author papers in the Journal of Cell Biology and Developmental Biology, as well as 2 co-author papers in Cell.

Jim’s current studies are focused on determining the molecular underpinnings of the genetic skeletal myopathies that affect young children and in using that knowledge to develop novel therapies. His studies take advantage of the zebrafish as a novel system for studying muscle disease. His work has been recognized as paradigm shifting in the field of congenital myopathies as it has revealed previously unknown commonalities among this broad group of muscle conditions. Since 2008, this work has resulted in five first author publications and two senior author publications.

Jim has been the recipient of numerous prizes including the Zeritsky Prize for Outstanding Research, for research performed during his residency with Dr. Jeffrey Golden, and the prestigious Young Myologist of the Year (2009) awarded by the World Muscle Society Congress in 2009.