As a Clinical, Biochemical and Molecular Geneticist, Dr. Phillips has diagnosed, treated, and cared for children and adults with many genetic diseases, including congenital malformations, chromosomal, Mendelian, and metabolic disorders. He has been the principal investigator (PI) on clinical trials to treat Achondroplasia, Argininemia, Fatty Acid Oxidative Disorders, Methylmalonic Acidemia, and Phenylketonuria. These clinical trial studies contributed significant data that led to the FDA approval of four drugs to treat genetic disorders. As a clinician, Dr. Phillips contributes to the efforts of the Division of Medical Genetics and Genomic Medicine which currently sees approximately 5,000 total genetic cases annually.

Dr. Phillips has been a Subject Editor for the Online Mendelian Inheritance in Man (OMIM) database (https://www.omim.org). He has been a Co-Director of and lecturer in the American College of Medical Genetics, Genetics Review Course from 2005-present. He has also been a lecturer in the Annual McKusick Short Course in Medical and Experimental Mammalian Genetics, Jackson Lab, Bar Harbor, Maine from 1977 to present.

Dr. Phillips' past research focused on Mendelian disorders that have heterogeneous causes, reduced penetrance, and variable expression (Familial Growth Hormone Deficiency, Hereditable Pulmonary Arterial Hypertension, and Familial Pulmonary Fibrosis), as well as undiagnosed and many rare genetic diseases. He has shared in the discovery of multiple genetic disorders, the mechanisms underlying many, as well as the treatment of others. He is currently a Co-PI of the Vanderbilt Center for Undiagnosed Diseases (VCUD), a segment of the NIH Undiagnosed Disease Network (UDN). He also sees patients referred to the new Vanderbilt Undiagnosed Diseases Program (VUDP). In a recent review, it was discovered that 33% of our UDN diagnoses were not solved exclusively by exome sequencing (ES), and several methods were needed to detect and/or confirm the functional effects of the DNA variants that were missed by ES, and in some cases by genome sequencing.

Dr. Patterson plays a vital role in improving the quality of care provided in the Division of Academic General Pediatrics. Through a people, process, technology paradigm, he had led multiple initiatives that result in high immunization rates, up-to-date well child care, and new patient access to name a few. He co-leads the Quality Academy for the Department, advancing quality improvement methodology in outpatient settings. His institutional leadership focuses on enhancing population health.

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Dr. Patrick's work focuses on identifying and characterizing pathogenic molecular pathways in juvenile idiopathic arthritis and pediatric autoimmune disease.  Her research program employs the study of rare monogenetic mutations associated with disease manifestations to discover novel pathways involved in autoimmunity.  This strategy defines the relationship of these pathways to the broader disease population.  She has elucidated the role of GATA3, a gene critical for T cell differentiation and function, in juvenile idiopathic arthritis.  Her research program involves studies in primary human cells using molecular biology, immunology, and next generation sequencing techniques. 

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Dr. Patel's research interests include the development of a computerized database for the PCCU for quality assurance and clinical research as well as an electronic charting system for deep sedation services in collaboration with Integrated eMed Solutions.

Dr. Parra is interested in advanced non invasive imaging to determine early markers of cardiac dysfunction in patients with congenital heart disease and cardiomyopathy