July 18, 2008

Down Syndrome Clinic names Summar as medical director

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Karen Summar, M.D.

Down Syndrome Clinic names Summar as medical director

Karen Summar, M.D., has been named medical director of the Down Syndrome Clinic at the Monroe Carell Jr. Children's Hospital at Vanderbilt.

The clinic provides comprehensive medical evaluations for individuals who have Down syndrome, a genetic disorder that is characterized by increased risk of medical complications such as congenital heart disease, thyroid disorders, leukemia and Alzheimer's disease.

Summar plans to continue to provide clinical care for these individuals while expanding the clinical research program.

“A lot of medicine is hand-me-down where Down syndrome is concerned. Doctors take what is known with other patients and apply it to patients with Down syndrome, but it doesn't always make sense to make this assumption. Down syndrome is a unique condition caused by an additional copy of chromosome 21. This extra chromosome both increases the risk of, and protects against, certain health conditions. It is time to look at Down syndrome with fresh eyes,” Summar said.

Summar recently completed a study that looked at obstructive sleep apnea in children with Down syndrome. The clinic is also involved in a multi-center drug trial and a study of the frequency of pulmonary hypertension in individuals with Down syndrome.

By working with Vanderbilt's DNA Databank and national Down syndrome organizations, Summar hopes to create a national database that will be used to promote research about Down syndrome.

“Down syndrome is also a model in which to study disease that affects the general population,” Summar explained. “Aging is accelerated in Down syndrome, and Alzheimer's has an attack rate of 50 percent in adults with Down syndrome. Understanding the role of the extra chromosome in the biology of these disorders will lead to therapies that will help people with Down syndrome but will also help those who do not have Down syndrome.”

Summar attended medical school at University of Tennessee, served as a physician for five years in the U.S. Navy, then completed her residency in pediatrics at VMC. While working as a general pediatrician in private practice, she was inspired to focus on patients with Down syndrome.

“I had the privilege of caring for a number of children with Down syndrome. As a result of that practice, I became convinced that this is a group of individuals who has been underserved by the clinical research community,” Summar said.

Her mentors were Lisa Craft, M.D., assistant professor of Pediatrics, and Elisabeth Dykens, PhD, associate director of the Vanderbilt Kennedy Center.

“My goal for the Down syndrome clinic is to have a place where an individual with Down syndrome can receive excellent clinical services, but also have the opportunity to participate in research.

“The goal is to improve their quality of life but also to learn from this interesting genetic condition.”