NIH R01: Pathogenesis and Natural History in a Longitudinal Hemangioma Syndrome Cohort
Dr. Siegel (principal investigator) and the Medical College of Wisconsin received a three-year, $1.38 million grant from the National Institute of Arthritis and Musculoskeletal and Skin Diseases to study the genetics of PHACE syndrome. PHACE syndrome is the association of large segmental facial hemangiomas and congenital birth defects, such as posterior fossa malformations. The primary objective of this grant is to elucidate the critical developmental genetic pathway involved in PHACE syndrome. The secondary objective is to correlate the most severe clinical features (coarctation of the aorta, cerebrovascular anomalies and stroke) with the genotype.
In this project, Dr. Siegel will use next generation high-throughput sequencing technology, custom designed analysis pipelines, and standard validation methods to identify mosaic mutations in PHACE syndrome. She will capitalize on her rigorously phenotyped clinical PHACE registry (of over 175 patients) and extensive preliminary data defining the clinical characteristics of PHACE syndrome to determine genotype-phenotype correlations.