Under the leadership of Dr. Dianna Milewicz, MD, PhD, Director, Vice Chair of Internal Medicine, Dorris Duke Distinguished Clinical Scientist, our Division has made numerous strides in the field of medical genetics. This section of the Medical Genetics Web site provides detailed information on areas of research in the genetics of connective tissue disorders. In recent years, research has accelerated significantly. Our research group takes pride in its active and innovative research culture and is committed to playing leading roles in development and application of knowledge in its strengths in medical genetics. Our faculty and staff have strong, international reputations in research and are leaders in their fields, undertaking cutting edge research in genetic defects such as Marfan syndrome, aortic aneurysms, intracranial aneurysms, congenital contractual arachnodacyl (Beals syndrome), and scleroderma. We have identified or narrowed down several of the gene locations that control the above-mentioned defects and determined how their alterations cause these diseases. The research performed in medical genetics strives to elucidate genetic abnormalities that will eventually lead to new forms of clinical therapies for the patients affected with these conditions.

How to Participate
You and your family might be eligible to participate in any one of our research studies.  If you are interested in participating, please contact Alana Cecchi, MS, CGC, Isabella Marin or Ellen Hostetler. The study coordinator will explain the study to you, review your health and family history to confirm that you meet the eligibility criteria for any of these studies, and coordinate collection of sample and medical information.