What is being done to learn more about Williams syndrome?
By combining animal models with human studies, Dr. Kozel is investigating genetic factors that influence the severity of vascular disease in patients with Williams syndrome. She has identified genes that regulate blood vessel narrowing and control disease severity in mice.
To translate the findings to patients, she works with collaborators to collect and analyze medical history and DNA from children and adults with Williams syndrome. By collecting this information, she hopes to identify factors (genetic or environmental) that increase the risk of blood vessel disease in those with Williams syndrome. "Our approach would help us to stratify patients into groups based on what type of monitoring they will need and determine which medications should be used to control blood vessel problems," Dr. Kozel says. In the future, she expects to extend her studies to learn more about other medical and developmental problems in Williams syndrome.