Thomas Cassini
Assistant Professor of Pediatrics, Medicine, and Genetics,
Vanderbilt University Medical Center
I am an Assistant Professor of Genetics and Genomic Medicine in the Department of Pediatrics on the Clinician Educator track at Vanderbilt University Medical Center (VUMC). Prior to this, I completed a residency in combined Internal Medicine and Pediatrics and a chief residency in Internal Medicine. My fellowship training was through the National Institutes of Health (NIH) in Medical Genetics and Genomic and Medical Biochemical Genetics. I also served as the chief fellow in the program. My clinical focus is on the care of patients with inborn errors of metabolism with a weekly clinic dedicated to this and working as the genetics Director of Metabolic Liver Transplant. My internal medicine training has positioned me as one of a small number of providers specialized to provide care to adults with metabolic conditions, both as they transition from pediatric care or when they present in adulthood. Given my broad training background and interest in complicated cases, I have developed extensive experience in rare and undiagnosed diseases. My research focus is on improving diagnostic evaluations of patients, particularly those with rare disorders. This includes clinical evaluations, bioinformatics, and research collaboration. I have worked with the Undiagnosed Diseases Network (UDN) at VUMC and the Undiagnosed Disease Program and the NIH over the past 10 years. I am the Associate Director of the Potocsnak Center for Undiagnosed and Rare Disorders and the Associate Director for the National Organization of Rare Diseases center of excellence at VUMC. I am also an associate investigator at the Vanderbilt UDN site.
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