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Beth Kozel

Beth Kozel

National Institutes of Health
Beth Kozel, MD, PhD is a clinical geneticist and Lasker Clinical Research Scholar. She leads the Laboratory of Vascular and Matrix Genetics at the National Heart, Lung, and Blood Institute of the National Institutes of Health. She also directs the multidisciplinary Williams Syndrome Center at St. Louis Children's Hospital. At the NIH, her emphasis is on defining genetic underpinnings of rare vascular diseases –especially those related to connective tissue defects.
With extensive experience in genetics, vascular and matrix biology, Dr. Kozel focuses her research on elastin-mediated arteriopathy. Her work embodies the bench-to-bedside ideal, making novel observations in humans with rare conditions and taking them back to the laboratory for animal- and cell-based mechanistic studies. She has made key contributions to the field of connective tissue biology, from groundbreaking advances in elastic fiber assembly to novel discoveries of vascular stiffness, pulmonary disease, and heart rate variability in people with Williams syndrome (WS). She then tied those clinical findings back to the genetics of the condition by establishing genotype-phenotype correlations and unraveling the molecular mechanism for several of the WS region genes. More recently, Dr. Kozel's group has developed critical strategies to identify genetic modifiers for severe outcomes in rare disease cohorts– for this unique contribution, her group was awarded the 2021 NHLBI Director's Award for Innovation. Those findings are currently being fed into gene-first precision genetics efforts, where she and her collaborators are working to better predict outcomes arising from natural variation in connective tissue genes.
Dr. Kozel is also engaged in local, national, and international research and patient-focused advocacy. Her work has influenced national and international WS guidelines, and her opinion is regularly sought to advise on patients with connective tissue conditions. She is an esteemed educator who has mentored numerous trainees, winning awards for her own mentorship and teaching.