Cynthia Liu L&S Sciences
Establishing a Mouse Model for Brain Arteriovenous Malformations
This project aims to establish and characterize a novel mouse model for hereditary hemorrhagic telangiectasia (HHT). HHT is an autosomal dominant disorder known to be caused by mutations in the receptor activin receptor-like kinase (ALK1). Arteriovenous malformations (AVMs) are a hallmark of HHT, and brain AVMs (bAVMs) can be particularly risky as they can cause hemorrhagic stroke. HHT-bAVM formation mechanism is not well understood and there are no preventions or treatments. Animal models of Alk1 deficiency can facilitate the study of HHT-bAVM pathogenesis; however, existing HHT-Alk1 mouse models are limited in their ability to recapitulate clinical bAVM features. Thus, I propose to establish a superior HHT-bAVM mouse model, with genetics and symptoms closer to clinical HHT-bAVM and having high bAVM penetrance, as well as characterize the cellular parameters accompanying HHT-bAVM pathogenesis in these mice to better understand HHT-bAVM progression mechanism. Successfully completing this project will provide a crucial system and valuable insights into HHT pathogenesis and facilitate therapeutic development.
Message To Sponsor
Thank you for supporting my summer research. Such support will allow me to focus on my project and develop more in this field, as well as help develop necessary skills and techniques to succeed in research. I look forward to committing full time to research and being able to make significant headway into this project!