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

June 25, 2014

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.

This site uses Facebook comments to make it easier for you to contribute. If you see a comment you would like to flag for spam or abuse, click the "x" in the upper right of it. By posting, you agree to our Terms of Use.

Suburban News Roundup

E-mail Newsletter

Your link to the biggest stories in the suburbs delivered Thursday mornings.


Enter your e-mail address above and click "Sign Up Now!" to begin receiving your e-mail newsletter
Get the Newsletter!

Login or Register to manage all your newsletter preferences.

Community Watch

» What residents in Southeast Wisconsin need to know to prevent the spread of Zika virus 2/10

» For Wauwatosa Hurricanes' Danny Larson, it's all about the team 2/10

» Wauwatosa West boys basketball team bounces back to beat New Berlin West 2/10

» Wauwatosa West girls basketball team drops five in a row 2/10

» Wauwatosa East girls basketball team defeats Menomonee Falls to snap 3-game losing streak 2/10

» Big Cheese Classic National Wheelchair Basketball tourney set for Feb. 20-21 2/10

» Wauwatosa's Larson wins two swimming championship 2/10

» Wauwatosa East boys basketball team drops third straight game 2/10

» Five Wauwatosa East student-athletes to play at collegiate level 2/10

» Wauwatosa's Beekman to play football at Southern A&M 2/10

» Tosa officers return to work following police-involved shooting 2/9

» Fat Tuesday: How Wauwatosa celebrated 2/9

» As trial begins, man pleads guilty to shooting Wauwatosa police officer Updated:  2/8

» Tosa's All-City Read well underway, more events to come 2/8

» Wauwatosa Revolving Loan Fund celebrates 25 years 2/8

» Milwaukee Co. Zoo welcomes two new lionesses 2/8

» Updated rankings of area prep boys and girls basketball teams and players 2/8

» Wauwatosa West boys basketball team defeats Shorewood, South Milwaukee 2/3

» Marquette gets revenge with 75-55 victory over Wauwatosa East boys 2/3

» Wauwatosa East's Stewart, Green combine for 49 points in win over Brookfield Central 2/3

» Wauwatosa West girls basketball team loses road games to Shorewood, South Milwaukee 2/3

» Wauwatosa Hurricanes finish second at Bob White Swimming Invitational 2/3

» Wauwatosa Tosa girls basketball team drops tough decisions to Lancers, Chargers 2/3

» Pewaukee whips Wauwatosa wrestlers to take first in conference 2/3

» Positive and uplifting stories in suburban Milwaukee and Lake Country in January 2/1

View All Posts Got a tip? Welcome rss

Advertisement

Advertisement

Hidden Tosa

 

"Hidden Tosa" is a semi-regular feature where reporters Rory Linnane or Rachel Minske explore the closed down and closed off parts of Wauwatosa.

Advertisement

Election center 2016

Election overage from from the MyCommunityNow coverage area covering suburban Milwaukee County and the eastern half of Waukesha County.

Suburban Milwaukee election center 2016

Local Business Directory

CONNECT