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 VUMC. Given my broad training background and interest in complicated cases, I have developed extensive experience in rare and undiagnosed diseases. My clinical focus is on the care of patients with inborn errors of metabolism with a weekly clinic focused on this. Given my internal medicine training I am 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. My research focus is on improving diagnostic evaluations of patients, particularly those with rare disorders. This includes both clinical evaluations, bioinformatics, and research collaboration. I have extensive experience with the Undiagnosed Diseases Network at VUMC and the Undiagnosed Disease Program and the NIH. I am the Associate Director of the Potocsnak Center for Undiagnosed and Rare Disorders. My time as a chief resident and fellow allowed me to hone my leadership and administrative skills to be able to accel this position. This also helped me to further develop my educational skills. I completed the Educational Academic Community, an optional additional curriculum for residents interested in learning more about a career as clinician educators, during residency. I also currently am a member of the National Organization of Rare Diseases medical education working group. Through my clinical, research, education, and leadership experience have gained the necessary skills to carry out the proposed research project.