Vascular and Matrix Genetics

As a matrix biologist, vascular biologist and geneticist, Dr Kozel’s laboratory aims to understand the genetic underpinnings of rare vascular diseases, especially those caused by connective tissue defects.

Since joining the NIH in 2015, Dr. Kozel has built a multi-dimensional translational research program. Her team currently evaluates around 100 individuals per year with rare vascular disorders, including Williams Beuren syndrome, isolated supravalvar aortic stenosis (SVAS), familial aortic aneurysm, and CADASIL. Careful evaluation of those patients in the NIH Clinical Center, in collaboration with specialists from multiple disciplines has allowed her team to identify novel features of those conditions, which they then investigate more fully in model organisms and cells.

With expertise in vessel and cardiac physiology and multi-modal imaging, the group has been able to has quantify disease features, such as stenosis, aneurysm, tortuosity, and stiffness in animal models and study the impact of those changes on end organs as well as the response of these phenotypes to novel treatments.

Likewise, their work in induced pluripotent stem cells (iPSC) smooth muscle cells has allowed them to model connective tissue diseases in a dish and study the elastic fiber assembly process in detail.

Finally, her group uses genomic investigations to detect rare and common variation that contributes to the range of severity seen among individuals with the same diagnosis. Candidate modifiers are then evaluated in those same animal and cell models to identify targets for rational therapeutics. Patients interested in learning more about Dr. Kozel’s open research studies should visit ClinicalTrials.gov for details and contact information.