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Johns Hopkins Medicine
Media Relations and Public Affairs
Media Contact: Audrey Huang
June 19, 2006

-- Recipient’s goal is to establish specialized center for children with hypotonia

Ronald Cohn, M.D., a resident in the combined pediatrics and genetics program and chief resident Cohnat the McKusick-Nathans Institute for Genetic Medicine at Johns Hopkins, has been awarded the first Harvard-Partners Center for Genetics and Genomics Award in medical genetics. Cohn, whose research focuses on muscle regeneration in various muscle diseases, will receive a $20,000 cash prize at a formal dinner in his honor in Boston on June 21 and will present at grand rounds at Harvard Medical School that same day.

Cohn, the first Hopkins resident to train in a combined pediatric and genetics program, says it is an "incredible honor to be the inaugural recipient" of an award that recognizes the path that medical genetics research is taking.

"The fact that I am now being recognized for things which have given me so much satisfaction and enjoyment is truly beyond anything I could ever have imagined at this stage of my career," says Cohn. Specifically, his studies are seeking the molecular roots of the muscle deterioration common to a variety of muscle diseases that can cause progressive weakness and disability.

"Ronni is a fantastic clinician and research scientist - no one is more deserving of this recognition," says Aravinda Chakravarti, Ph.D., director of the McKusick-Nathans Institute for Genetic Medicine at Hopkins.

Muscle is the second largest tissue in the body and can regenerate and repair itself very well. The last tetanus shot you got destroyed hundreds of muscle cells in your arm, explains Cohn. Other cells in muscles, called satellite cells, normally lie in wait to repair just that type of injury.

Satellite cells have stem cell-like properties that allow them to move to the site of injury within the muscle and repair that injury by turning into muscle cells themselves. The molecular underpinnings of this repair - also known as muscle regeneration - are not well understood and are the focus of Cohn’s research.

Cohn came to his specialty as a result of happenstance. While he was attending medical school in Germany, his initial goal was to specialize in pediatric neurology and the treatment of neurogenetic disorders. However, during residency training at Children’s Hospital of the University of Essen, Germany, he happened to take charge of a diagnostic laboratory specializing in neuromuscular diseases. He learned how to analyze muscle tissue samples and developed an interest in muscle research.

He subsequently did a postdoctoral fellowship in Kevin Campbell’s laboratory at the Howard Hughes Medical Institute at the University of Iowa, where he characterized the molecular events that lead to loss of muscle in muscular dystrophies.

Cohn extended his work on muscle regeneration during his residency in the laboratory of Hal Dietz, M.D., a Howard Hughes Medical Institute investigator at Johns Hopkins, where he studied the molecular basis of decreased muscle tone and mass in patients with Marfan syndrome.

To further his research in neuromuscular disorders, Cohn will join the faculty of pediatrics, neurology and the McKusick-Nathans Institute of Genetic Medicine later this year. He plans to start a clinic for children with decreased muscle tone, known as hypotonia, to provide these children a place for coordinated diagnostic and therapeutic services.

"Hypotonia is a symptom of more than 500 different disorders, and right now these children are referred all over the place to different specialists because there isn’t a place dedicated to evaluate and treat these children," says Cohn, who has encountered many desperate parents who don’t know where to turn to seek help for their children.

Under the mentorship of Barton Childs, M.D., and David Valle, M.D., at Hopkins, Cohn has been very involved in teaching medical students and other residents the novel concepts of genetic individuality and personalized medicine.

"We live in an extremely exciting time - the gap between basic science and clinical medicine is closing rapidly due to the knowledge gained from the human genome project," says Cohn. "Geneticists will play critical roles in bringing scientific understanding to the daily practice of medicine, and I feel privileged to be part of this new generation of geneticists."

"At the end of the day, I am a physician," says the soft-spoken Cohn, who takes calls from his patients’ families around the clock. "The most important thing always is to ensure compassionate care."

The Harvard-Partners Center for Genetics and Genomics Award honors an outstanding, emerging medical geneticist, recognizing a physician or scientist who is completing or has completed training in the area of medical genetics or a combined training program in medical genetics. The Center believes that the award in medical genetics will give critical visibility to the importance of genetics in the future of health care.

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