Our understanding of genetic susceptibility to aortic disease has progressed greatly over the last two decades with novel genes described at a rapidly increasing pace. We are highly invested in the discovery of new genes conferring susceptibility to aortic aneurysm in humans. For this purpose, in partnership with Dr. Eric Isselbacher, M.D. (Co-director of the MGH Thoracic Aortic Center), we are actively characterizing individual patients and families affected by aortic disease. To date over 400 individuals with aortic disease have been recruited to join this effort by donating their time and genomic information. In the laboratory we are utilizing traditional and next generation DNA sequencing approaches coupled with a large linked clinical dataset to identify and characterize new genes involved in human aortic disease and the clinical behavior and characteristics of these conditions.

If you are interested in learning about or participating in aortic research at MGH please contact:

Linda Pitler, R.N. LPITLER@ partners.org