Beth A. Kozel, MD
Contact Information
Beth Kozel, MD, PhD, is Chief of the Division of Genetics and Genomic Medicine and the Director of Constitutional Genomics Translational Research in the Steve and Cindy Rasmussen Institute for Genomic Medicine.
She is also a principal Investigator in the Institute for Genomic Medicine. Prior to joining the Abigail Wexner Research Institute, Dr. Kozel led the Laboratory of Vascular and Matrix Genetics at the National Heart, Lung, and Blood Institute (NHLBI) at the National Institutes of Health (NIH) and directed the multidisciplinary Williams Syndrome Center at Washington University School of Medicine and St. Louis Children’s Hospital.
Dr. Kozel has extensive experience in genetics, vascular and matrix biology with research focused on the study of two elastin insufficiency-related diseases: the neurodevelopmental condition known as Williams Syndrome (WS) and Familial Supravalvular Aortic Stenosis (SVAS), a narrowing of the aorta, the vessel that carries blood from the heart to the rest of the body. She has made key contributions to the field of connective tissue biology, from groundbreaking advances in the understanding of elastic fiber assembly to novel discoveries regarding the impact of elastin insufficiency on the body’s organs. More recently, her efforts have focused on designing methods for genetic modifier discovery in rare disease cohorts.
Over her career, Dr. Kozel has been engaged in local, national and international research and patient-focused advocacy. Her work has influenced national and international Williams Syndrome guidelines. Dr. Kozel has authored or contributed to more than 70 publications, and she is an active member in multiple research and clinical societies. These include the American Society of Matrix Biology and the North American Vascular Biology Organization. She is also a Fellow of the American College of Medical Genetics and Genomics.
Dr. Kozel has served on governing bodies and promoted equity in science, and she is an esteemed educator who has mentored numerous trainees, winning awards for her own mentorship and teaching along the way. Most recently, Dr. Kozel was awarded the 2023 NIH Director’s Award as a member of the Vascular Diagnostics Center Team “For establishing the first Vascular Diagnostics Center of its kind at the NIH.”
Dr. Kozel graduated summa cum laude from Washington University in St. Louis with a bachelor’s degree in biochemistry in 1996. She attained a medical doctorate 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 completed her residency in pediatrics at St. Louis Children’s Hospital and her residency in clinical genetics at WUSM. Dr. Kozel is board certified in pediatrics and clinical genetics.
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Genetic and Genomic Medicine
Division Chief -
Primary Department
Pediatrics -
Primary Section
Genetic and Genomic Medicine
- NIH Director’s Award as a member of the Vascular Diagnostics Center Team “For establishing the first Vascular Diagnostics Center of its kind at the NIH”, National Institutes of Health, 2023
- NHLBI Director’s Award for Partnership/Collaboration “For work as part of the Vascular Diagnostics Center”, National Heart, Lung, and Blood Institute, NIH, 2023
- NHLBI Director’s Award for Innovation “For identifying complex genetic traits and unraveling their complexity in patient populations with rare genetic diseases", National Heart, Lung, and Blood Institute, NIH, 2021
- Integrated Life Sciences Honors Program, Outstanding Mentor Award, University of Maryland, 2021
- Hope Award, Williams Syndrome Association, 2019
- Member, Fellow of the American College of Medical Genetics and Genomics, 2021 - Present
- Member, North American Vascular Biology Organization, 2013 - Present
- Member, American Society of Matrix Biology, 2010 - Present
- Member, American Society of Human Genetics, 2009 - Present
Date of Appointment at Nationwide Children’s Hospital: 03/29/2024
Board Certifications
- Clinical Genetics and Genomics (MD)
- Pediatrics
| Fellowship | St. Louis Children's Hospital | Date Completed: 06/30/2009 |
|---|---|---|
| Residency | St. Louis Children's Hospital | Date Completed: 06/30/2007 |
| Internship | St. Louis Children's Hospital | Date Completed: 06/30/2005 |
| Medical School | Washington University School of Medicine | Date Completed: 05/30/2004 |
- Aortopathies
- Cardiovascular genetics
- Implementation of genomic testing in inpatient and outpatient settings
- Williams-Beuren syndrome
2024 - Present Nationwide Children's Hospital Institute for Genomic Medicine, Division Chief of Genetic and Genomic Medicine and Director of Constitutional Genomics Translational Research
2022 - 2024 National Institutes of Health, National Heart, Lung, and Blood Institute, Senior Investigator and Lasker Clinical Research Scholar
2019 - 2024 Washington University School of Medicine, Adjunct Associate Professor of Pediatrics, Division of Genetics and Genomic Medicine
2015 - 2022 National Institutes of Health, National Heart, Lung, and Blood Institute, Investigator and Lasker Clinical Research Scholar
2015 - 2019 Washington University School of Medicine, Adjunct Assistant Professor of Pediatrics, Division of Genetics and Genomic Medicine