Vascular and Matrix Genetics
The Laboratory of Vascular and Matrix Genetics is led by Dr. Beth Kozel. As a matrix biologist, vascular biologist, and geneticist, Dr. Kozel seeks to better understand the factors that influence vascular disease severity in patients with rare connective tissue disorders.
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.
Beth Kozel graduated from Washington University in St. Louis with a bachelor’s degree in biochemistry in 1996. She attained a medical degree and doctorate in cell biology and physiology at the Washington University School of Medicine (WUSM) in 2004 through a combined M.D.-Ph.D. program. Dr. Kozel then completed her residency in pediatrics at St. Louis Children’s Hospital and her residency in clinical genetics at WUSM. Prior to joining the NHLBI in 2015, she worked as a physician scientist in the Department of Pediatrics at WUSM. She has received both the Heart to Heart and the Hope award from the Williams Syndrome Association for her clinical and research efforts in this area. Dr. Kozel has authored or coauthored more than 40 publications and three book chapters. She is a member of several professional societies including the American Society of Matrix Biology and the North American Vascular Biology Organization, in both of which she has served on council or committees.
We are always looking to hire new talent for our team. Currently we are interested in post-doc fellows with interests in stem cell…