What genes cause PHACE syndrome? MCW researcher aims to find out

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.