Dr. Akhurst's general research area has to do with the TGF-Beta signaling pathway, which is active in many cellular processes. Most notably in the control of cellular proliferation and differentiation, which is why it has been implicated in a variety of cancers and other diseases. HHT, hereditary hemorrhagic telangiectasia is one of these diseases, it has been described as a disease of excessive angiogenesis. One of the pathways in the TGFB super-family is responsible for an increase in proliferation in endothelial progenitor cells (EPCs) and two of the receptors in this pathway, endoglin and alk1, are frequently found to be mutated in HHT patients. Other mutations in these patients have revealed modifiers of these pathways, as is shown by altered phenotypes in disease manifestation.

Pursuant with these features, we will be culturing EPCs from HHT as well as from non-HHT genotypes for characterization. My project will also include genotyping of HHT patient EPCs to identify other potential modifiers of the TGFB path/therapeutic targets. I will also attempt to generate iPSCs from HHT patient blood samples