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The Vascular Anomalies Center (VAC) at Boston Children's Hospital conducts basic, translational and clinical research that continues to fuel the development of new, more effective therapies for vascular malformations and vascular tumors in children and adults — research that may one day even result in ways of preventing these anomalies. We have a responsibility to current and future patients to learn as much as possible from each patient we see.
Research on vascular anomalies at Boston Children's is deeply linked in the legacy of the late Judah Folkman, MD, founder of the hospital's Vascular Biology Program and past scientific director of the VAC. Dr. Folkman was a pioneer in the study of angiogenesis (the process by which blood vessels grow).
For instance, studies in the laboratory of Joyce Bischoff, PhD, a member of the Vascular Biology Program, have resulted in creation of the premier model of infantile hemangioma. Her work has helped define not only which medications work on these lesions but also how and why they work.
For 20 years, the VAC has been collaborating with genetic researchers in Brussels, Belgium, to understand the causes of vascular anomalies. These collaborations have resulted in several discoveries, such as:
the first gene linked to familial venous malformations (TIE2)
a gene responsible for a more common form of cutaneous hereditary venous anomalies (glomuvenous malformation)
a gene for familial capillary-malformations with arteriovenous malformations and some forms of Parkes Weber syndrome (RASA1)
These basic researchers are using tissue culture techniques and creating models of vascular anomalies in mice to understand the abnormal molecular signaling that cause malformed vascular channels. Someday soon, this basic science knowledge will be applied to control, and possibly prevent, vascular anomalies.
At the 2013 meeting of the American Society of Pediatric Hematology Oncology, a group of vascular anomalies specialists including the VAC's Cameron Trenor, MD, and Denise Adams, MD, unveiled the Consortium for the Study of Vascular Anomalies. This multi-center consortium is bringing the resources and knowledge of specialists from across the continent to bear on the study of and development of treatments for vascular anomalies.
Our own in-house capabilities have been greatly enhanced through our ongoing partnership with Matthew Warman, MD, of the Orthopedic Research Laboratories at Boston Children's. Together, VAC researchers and Dr. Warman have identified a common molecular basis — mutations in a gene called PIK3CA — for several lymphatic and vascular anomalies, namely CLOVES, Klippel-Trenaunay syndrome (KTS), fibroadipose vascular anomaly (FAVA) and isolated lymphatic malformations.
Proper diagnosis is the first step toward effective treatment. The VAC has led the pediatric field in defining vascular anomalies and establishing new diagnoses.
For instance, studies led by VAC co-director Ahmad Alomari, MD, MSc, FSIR, led to the definition of CLOVES, FAVA and several other vascular anomalies as unique conditions. And VAC co-director John Mulliken, MD, in addition to developing simple techniques for the removal of hemangiomas, produced the definitive text on the classification of vascular anomalies, work that continues to be update and serve as a valuable resource to this day for all clinicians caring for patients with vascular anomalies.
Many vascular anomalies are rare disorders, and there is relatively little information available about long-term effects, treatments and outcomes. Because the limited number of patients with these disorders are spread across the globe, it is very important that we gather patient data from multiple institutions and patients in a centralized registry, with the goal of expediting clinical understanding and improving care. The VAC has established two data registries for patients with vascular anomalies and their providers.
The Infantile Hepatic Hemangioma Registry collects information regarding the radiographic, physiologic and biochemical presentation of hepatic hemangiomas, their clinical progression and their response to treatment.
The Lymphatic Anomalies Registry is seeking to collect clinical data from patients that could improve our understanding of lymphatic anomalies, including what complications to expect, which therapies are more effective than others, predictors of disease stability and/or recurrence and inheritance patterns.
We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”