Clinical Instructor, Vanderbilt University Medical Center
My work focuses on utilizing genetics, computational approaches, and informatics to answer questions regarding molecular mechanisms of disease and genetic disorder diagnoses. As an Instructor in Medical Genetics and Genomics at Vanderbilt University Medical Center (VUMC), I remain committed to a career as a physician-scientist focusing on improving our ability to make genetic diagnoses to decrease morbidity and mortality of these diagnoses. Interest in this work started as a member of the Medical Scientist Training Program (MSTP) at the Medical College of Wisconsin where my research used whole-exome and whole-genome sequencing to identify candidate variants in three families with presumed genetic disorders. This work led to genetic diagnoses, contributed to our understanding of disease pathophysiology, and demonstrated the need for individuals, like me, who can bridge the gaps between clinical genetics, bioinformatics, and research to positively affect patient care and outcomes. My passion for this translational work has only continued to grow since this experience. Following successful completion of the MSTP, my work leveraging large datasets to address questions of genetic disease and molecular mechanisms has continued. We are leveraging a large DNA biobank coupled with electronic health record (EHR) data to identify patterns of undiagnosed genetic disease and gene-environment interactions. Our current work, supported by the Department of Pediatrics K12, has confirmed the previously reported, disproportionately high proportion of critically ill neonates with an underlying genetic contribution to their illness and an underdiagnosis of these disorders. We are working to identify early developmental phenotypic presentations of genetic disease in critically ill neonates to decrease the morbidity and mortality of this patient population through earlier diagnosis and informed management.