Endowed Chair: Clinical Cytogenetics led by Diana Carrasco, M.D.
The pioneering research in Clinical Cytogenetics Program seeks to apply optical genome mapping (OGM), a cutting-edge genetic laboratory technology, to discover new genes implicated in human disease and help unravel diagnostic mysteries. Using current technology, as many as 40% of our patients with cardiovascular, renal and immune dysregulation disorders have no known explanation for their medical conditions. We hypothesize that a significant proportion of these cases have rare genetic diseases only detectable by OGM. This study will help us find a diagnosis for these patients so that we can best manage, prognosticate and treat their condition. It will advance the goal of our Precision Medicine Program – to provide individualized care based on each patient's genetic makeup. With this endowed chair, the world-renowned Greenwood Genetic Center has agreed to provide us OGM and collaborate in publishing our findings in leading medical journals. Their partnership will also give us access to laboratory geneticists, who have completed three years of postdoctoral training and are board certified specialists. Our program will demonstrate Cook Children’s ability to successfully work with top tier genetics institutions and help strengthen our reputation.
Meet Dr. Carrasco
Dr. Carrasco has dedicated her career to discovering new and innovative treatments for children with rare genetic diseases – helping give families a brighter future.
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