Medical College of Wisconsin researcher receives grant to study genes involved in PHACE syndrome
For Immediate Release:
June 23, 2014
Medical College of Wisconsin
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The Medical College of Wisconsin (MCW) and the Children’s Hospital of Wisconsin Research Institute have received a three-year, $1.3 million grant from the National Institutes of Health’s (NIH) National Institute of Arthritis and Musculoskeletal and Skin Diseases to study the genetic causes of PHACE syndrome, which is characterized by a large facial hemangioma, an abnormal buildup of blood vessels on the face, with other birth defects including abnormalities of the brain, heart, and eyes.
Dawn H. Siegel, M.D., associate professor of dermatology at MCW and a practicing pediatric dermatologist at Children’s Hospital of Wisconsin, is the principal investigator of the grant. Her research focuses on hemangiomas and genetic skin disorders, with particular interest in PHACE syndrome. PHACE is an acronym for posterior fossa malformations–hemangiomas–arterial anomalies–cardiac defects–eye abnormalities. This project will be undertaken by a multi-disciplinary team of experts in dermatology, genetics, neurology, bioinformatics, statistics, and cell biology.
The cause of PHACE syndrome is unknown and is the subject of investigation by researchers at the Children’s Hospital of Wisconsin and elsewhere. The first major goal of this grant is to identify genes involved in the development of PHACE syndrome. Researchers will then use this information to determine which of these genes are associated with the most severe features of this condition, such as heart malformations.
The results of this study will provide an understanding of the genetic basis of PHACE syndrome, and may foster new strategies in the prevention or treatment of this condition and other pediatric hemangiomas.
This research is supported by NIH grant 1R01AR064258-01A1, through the National Institute of Arthritis and Musculoskeletal and Skin Diseases.
About the Medical College of Wisconsin
The Medical College of Wisconsin is the state’s only private medical school and health sciences graduate school. Founded in 1893, it is dedicated to leadership and excellence in education, patient care, research and community engagement. More than 1,200 students are enrolled in the Medical College’s medical school and graduate school programs in Milwaukee. New regional medical education campuses are opening in Green Bay in 2015, and in Central Wisconsin in 2016, with each recruiting initial classes of 15-20 students. A major national research center, MCW is the largest research institution in the Milwaukee metro area and second largest in Wisconsin. In FY 2012-13, faculty received approximately $160 million in external support for research, teaching, training and related purposes, of which approximately $144 million is for research. This total includes highly competitive research and training awards from the National Institutes of Health (NIH). Annually, College faculty direct or collaborate on more than 2,000 research studies, including clinical trials. Additionally, more than 1,350 physicians provide care in virtually every specialty of medicine for more than 425,000 patients annually.
About Children’s Hospital of Wisconsin
Children’s Hospital of Wisconsin is the region’s only independent health care system dedicated solely to the health and well-being of children. The hospital, with locations in Milwaukee and Neenah, Wis., is recognized as one of the leading pediatric health care centers in the United States. It is ranked No. 4 in the nation by Parents magazine and ranked in 9 specialty areas in U.S. News & World Report’s 2013-14 Best Children’s Hospitals report. Children’s Hospital provides primary care, specialty care, urgent care, emergency care, community health services, foster and adoption services, child and family counseling, child advocacy services and family resource centers. In 2012, Children’s Hospital invested more than $117 million in the community to improve the health status of children through medical care, advocacy, education and pediatric medical research. Children’s Hospital achieves its mission in part through donations from individuals, corporations and foundations and is proud to be a member of Children’s Miracle Network Hospitals. For more information, visit the website at chw.org.
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