Pulmonary Vascular Group

Dr Claire Shovlin - Head of Group

Scientific studies are initiated from patient observations, in order to identify processes which when perturbed, result in human disease, and offer opportunities for therapeutic correction.

The group continues to use genetic linkage-based analyses in families with hereditary haemorrhagic telangiectasia (HHT) and pulmonary AVMs (PAVMs) to identify mutated disease genes, and improve our understanding of vascular endothelial cell processes relevant to human disease (blue arrows and panel). In HHT, these processes focus on impaired TGF-ß superfamily signalling resulting in defective responses to angiogenic stimuli in particular settings.

There are substantial obstacles however, to the generation and delivery of molecular medicines, particularly for rare diseases. The group therefore also uses an alternate approach, whereby cohorts of individuals with HHT and PAVMs are used to define unique models of thrombovascular risk. The resultant reverse translational programme combining clinical, cellular and molecular approaches (red arrows) is already delivering tangible health benefits to patients

Research opportunities within the group exist at all stages.