Dr. DeBaun is board-certified in pediatrics and pediatric hematology/oncology. He received an MD and Masters in Health Service Research from Stanford University and a MPH in epidemiology from The Johns Hopkins University School of Hygiene and Public Health. His research interests include the epidemiology and treatment of strokes in sickle cell disease and the epidemiology of pediatric genetic cancer predisposition syndromes. He is currently PI for the Silent Cerebral Infarct Multi-Center Trial (U01NS42804). The overall goal of this international trial is to determine whether blood transfusion therapy will decrease further neurologic morbidity in children with silent cerebral infarcts, and if so, the magnitude of this benefit. Dr. DeBaun is also the PI for Increasing Blood and Cord Blood Donations in Blacks (RO1DK062619). The overall goal of this project is to increase the number of African- American blood and cord blood stem cell donors in the St. Louis community. He is the PI for Asthma and Nocturnal Hypoxia in Sickle Cell Anemia (RO1HL079937). The overall goal of this study is to determine the epidemiology, clinical significance and genetic basis for asthma and sleep disturbance in children with sickle cell anemia. Dr. DeBaun also has established two international registries focused on better defining the natural history and genetic basis of two pediatric overgrowth syndromes with predispositions to cancer, Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes. He is also the Program Director of the Doris Duke Clinical Fellowship Program at Washington University School of Medicine, an intensive one year program for medical students to conduct clinical research. Dr. DeBaun has served on the Scientific Advisory Board as a Consultant for United States Environmental Protection Agency, the American College of Medical Genetics, Newborn Screening Expert Group, and the Executive Committee of the Section of Epidemiology, American Academy of Pediatrics.

Dr. Kulkarni’s principle research interest is the molecular characterization of chromosomal anomalies associated with human development and cancer. Rearrangements of chromosomes have long been recognized as a major cause of developmental delays, mental retardation, birth defects and cancer. Understanding the genetic basis for cognitive impairment and cancer will help us understand the genetic basis of human development as well as provide new diagnostic and prognostic markers in cancer. In addition, Dr. Kulkarni is currently developing whole genome approaches to detect cryptic and submicroscopic deletions and duplications using micro-array based comparative genomic hybridization (aCGH).

For more information on the Cytogenetics Laboratory at Washington University, Click Here.

Dr. Morgan’s research is focused on the discovery of genetic variants that create susceptibility to complex diseases including cardiovascular diseases, birth defects, and childhood neurodevelopmental disorders. He approaches the heterogeneity of complex disease genetics in three ways: (1) molecular characterization of unique clinical cases (e.g., a child with a balanced chromosomal translocation and developmental delay); (2) genetic linkage analysis of families segregating a particular disease phenotype; (3) industrial-scale whole-genome analysis of large numbers of patients with a particular heritable medical condition. Given the need for multidisciplinary cooperation in order to make progress in complex genetics, his research activities are international in scope, with collaborations in Brazil, India, and the USA. Advances in oligonucleotide microarray technology and bioinformatics have made it possible, for the first time in history, to extract and analyze the bulk of human genetic variation, including single nucleotide polymorphisms or DNA copy number variants, from an individual patient's DNA sample, in a relatively short period of time. Such technology holds great promise for the identification of genetic risk factors and the elucidation of fundamental genetic pathways involved in human development and human disease. Yet it is also potentially liable to misinterpretation, particularly when sample sizes are insufficient or new technologies are misapplied. Thus, validation of existing research and development of statistical methods in genetic epidemiology are among his main interests. With the clinical care of patients as the primary motivation and point of departure, his research leverages high-throughput genetic technologies in the search for valid knowledge about genetic predisposition to human disease and developmental disorders.

Dr. Urban’s research group is interested in inherited vascular and connective tissue diseases, particularly in conditions caused by mutations in components of the elastic fiber system. For example, mutations in the elastin gene cause supravalvular aortic stenosis (SVAS), an obstructive arterial disorder characterized by segmental narrowing of major arteries. SVAS occurs as a part of a complex developmental disease, Williams-Beuren syndrome (WBS). We are currently investigating modifying factors of cardiovascular manifestations in WBS. Elastin gene mutations may also cutis laxa, a disease characterized by redundant and inelastic skin, emphysema and aortic aneurysm. We are using clinical, biochemical, cellular, and animal model studies to understand the distinct disease mechanisms leading to either SVAS or cutis laxa. Furthermore, because cutis laxa is characterized by considerable genetic heterogeneity, we have begun to search for novel cutis laxa genes. As a result, we have discovered that mutations in fibulin-4 cause a novel recessive cutis laxa syndrome characterized by vascular tortuosity, developmental emphysema and severe connective tissue disease. We are currently investigating the role of the fibulin family of proteins in vascular and connective tissue development by using zebrafish as a model. In the long term, we intend apply the knowledge learnt from these studies to uncover genetic risk factors common vascular, pulmonary and connective tissue diseases.

For more information on Dr. Urban’s research, Click Here.