Phenotyping Core

The Phenotyping Core ensures the consistency and confidence of enrollment diagnoses among the participating clinical centers for patients recruited into the GenTAC Registry. In conjunction with the GenTAC Steering Committee, the Phenotyping Core, led by Johns Hopkins University, establishes confirmation rules for each diagnostic category programmed by the Data Coordinating Center and run on the clinical datasets.

Jennifer Habashi, MD

Principal Investigator 

Jennifer Habashi, MD, completed her general pediatric cardiology fellowship at Johns Hopkins Hospital. She trained with Dr. Hal Dietz, in the laboratory and clinical arena, to become a specialist in connective tissues, particularly as they relate to the heart. Dr. Habashi co-authored several key articles focusing on emerging and novel therapeutics for the treatment of MFS and was the lead author on the pivotal paper, “Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome.” This paper pioneered a new understanding of aortic aneurysm and the new approaches for treatment. In addition, Dr. Habashi has won numerous early career research awards, including the Young Investigator award from the American Heart Association and the Postdoctoral Translational award from the American Society of Human Genetics. She has continued to pursue a dual research and clinical career, focusing on the translational research approaches in connective tissue disorders.

Photo of Gretchen Oswald, MS, CGC

Gretchen Oswald, MS, CGC
Genetic Counselor

Gretchen Oswald, MS, CGC, is a board-certified genetic counselor dedicated to heritable disorders of connective tissue on staff at the JHU genetics clinic since 2001. She is co-founder and vice-president of the Loeys-Dietz Syndrome Foundation and serves on the board of the mid-Atlantic chapter of the National Marfan Foundation. Ms. Oswald also assists with other research studies involving aneurysm syndromes at JHU.