Mosaicism and Inheritance in Vascular Malformations: Integrating Germline and Somatic Mutations

Presenter: Doug Marchuk, PhD

In this seminar, I will use one of the inherited diseases that we study, Cerebral Cavernous Malformations, to show how a human genetic study can lead to pathobiological insight and potential avenues to therapy. I will discuss over 3 decades of our research on this topic.