The Vascular Anomaly Program of NYU Medical Center endorses a mulitidisciplinary approach to the evaluation and management of patients with vascular anomalies. Physicians in this program share an interest and expertise in this unique patient population, having recognized new clinical entities, participated in exciting clinical trials, and seeking to identity a genetic predisposition in a subgroup of these patients. We share a database of over 700 patients. The principal investigator, who is the Medical Coordinator of the Vascular Anomaly Program, has acted as a mentor for physicians-in- training at NYU Medical School, and plans to continue this role in training upcoming generations of medical students, residents and fellows on the clinical investigation of patients with vascular anomalies. Background training will include topics of angiogenesis, endothelial biology, plus management of patients with vascular anomalies. Clinical research will focus on etiologic aspects of these diseases, especially genetic aspects. Trainees will be involved with study design, data collection and data analysis. The principal investigator is actively involved in investigations of potential genetic implications of these entities in collaboration with Douglas Marchuk, PhD., of the Department of Human Genetics at Duke University. Preliminary studies have focused on somatic and/or germline mutations as possible etiologic factors in vascular anomalies. We are performing genetic linkage analysis in affected kindreds with positional cloning of potential candidate genes, and we are assessing loss of heterozygosity in hemangioma tissue to see if endothelial cells in hemangioma tissue is clonal. In collaboration with Dr. Marchuk's group, the principal investigator recently published a familial incidence of hemangiomas, and genetic linkage to chromosome 5q in some of these families. The long-term objectives of this project are to establish a mentorship program in clinical investigation of vascular anomalies pursuing the clinical investigation of a potential genetic basis for the development of hemangiomas and vascular malformations in collaboration with an established investigator in this field.
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