• Image
  • Image
  • Image
  • Image

Capillary malformations: From somatic GNAQ mutation to disrupted endothelial function

Joyce E. Bischoff, Ph.D.


Research Associate Department of Surgery
Boston Children's Hospital
Harvard Medical School

Took place on May 2, 2019 at 1:00pm EDT





Joyce Bischoff -

Her lab studies the role of endothelial cells and pericytes in various settings of vascular disease and in the normal repair of the vasculature. These are the four areas her lab is pursuing.

  • Infantile hemangioma is a vascular tumor that can grow rapidly, causing organ damage, disfigurement and morbidity. We’ve focused on identifying cellular mechanisms that drive this uncontrolled vascular growth. We identified a multi-potent stem cell that can recapitulate hemangioma in immune-deficient mice. We are also studying pericytes from hemangioma and the glucose transporter-1 positive endothelial cells, which are a hallmark of hemangioma. Our goal is to use cellular and animal models to identify new drugs that will work safely and quickly to prevent hemangiomas from growing to an endangering size.

  • Vascular malformations are distinct from ascular tumors such as hemangioma but are also little understood and medical therapies are needed. We have recently begun new projects on the cellular and molecular basis of capillary malformations, lymphatic malformation and venous malformations.

  • Endothelial progenitor cells (EPCs), also called endothelial colony forming cells (ECFCs) are rare cells found in the blood. They can be isolated based on their high proliferative capacity in vitro. We demonstrated the usefulness of EPC/ECFC for endothelializing small diameter vascular grafts in a sheep model and for building networks of human blood vessels rapidly in vivo using athymic nude mice. We also showed that ECFC were able to assemble into perfused vessels when injected into ischemic rat myocardium, and that the presence of these cells was beneficial to recovery of heart function over time.

  • Heart valve endothelial cells - The endothelial cells lining heart valves exhibit unique plasticity compared endothelial cells of large vessels (veins and arteries) or microvessels (capillaries). The valve endothelial cells can undergo endothelial to mesenchymal transition (EndMT) in response to TGFβ, and this process is highly regulated. We study the mitral valve endothelium as part of a multi-disciplinary team focused on how the mitral valve adapts after myocardial infarction.

Presentation - 

This webinar, Capillary malformations: From somatic GNAQ mutation to disrupted endothelial function, will be closely related to the talk she presented in the session at Vascular Biology 2018 entitled, Blood Vessel Morphogenesis and Vascular Malformations.  If you missed the meeting, now is your chance to hear Dr. Bischoff's presentation and if you were at the meeting, this is your chance to hear a more in-depth talk and ask the questions you weren't able to at the meeting.   

Papers related to this work are:

Somatic GNAQ Mutation is Enriched in Brain Endothelial Cells in Sturge-Weber Syndromein Sturge-Weber Syndrome

and a review article:  A somatic missense mutation in GNAQ causes capillary malformationcapillary malformation

Registration - 

Click here to register now!

All participants will be required to register. Current NAVBO members in good standing can register for free, however, the registration form must be completed.  Non-members will be charged a $25 fee for each webinar.  Please be sure to follow the instructions in your confirmation email - you must also register at the GoToWebinar site.  Once registration is complete, each registrant will receive a link and unique pin to join the meeting.  We are using GoToWebinar.  The confirmation email will include information about accessing the webinar.

If you cannot attend on May 2, but would like a recording, register as described above.  If you are pre-registered, you will receive an email after the webinar with a link to the webinar.

If you have any questions, please contact This email address is being protected from spambots. You need JavaScript enabled to view it.