Contributions to Public Health
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Improving mechanistic understanding of a rare genetic disease: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disease that affects at least 1 in 5000 people worldwide. People with HHT develop arteriovenous malformations (AVMs) that can cause anemia, stroke, or heart failure. Using zebrafish models of HHT, we discovered that hemodynamic force interacts with the affected signaling pathway to control endothelial cell migration and AVM site selection. We hope to apply this information and pathway knowledge to develop first-in-class HHT therapeutics.
- Arthur HM, Roman BL. An update on preclinical models of hereditary haemorrhagic telangiectasia: Insights into disease mechanisms. Front Med (Lausanne). 2022 Sep 29;9:973964. doi: 10.3389/fmed.2022.973964. PMID: 36250069; PMCID: PMC9556665.
- Full list of publications
- Increasing local awareness of HHT: Despite clear and simple clinical diagnostic criteria, HHT is underdiagnosed, and the lag time between onset of symptoms and diagnosis, at 25 years, remains unacceptably high. I helped to establish the UPMC/Pitt HHT Center of Excellence to raise awareness of HHT among physicians and to facilitate translational research. Our Center now cares for over 100 HHT patients.
- UPMC/Pitt HHT Center of Excellence
- Advocacy and service to the global HHT community: I work with the patient-led advocacy group, Cure HHT. I am a member of their Global Research and Medical Advisory Board, North American Scientific and Medical Advisory Committee, and Chan Zuckerberg Institute (CZI) Rare-as-One Program Executive Committee. I have been on the planning committee for many HHT international scientific conferences, and I have spoken about HHT research at patient conferences and gatherings.
- Cure HHT
Lab members
Anthony Anzell, postdoctoral fellow
Stefanie Morsoky, Lab manager
Jordan Brooks, Technician
Zena Jalloh, undergraduate researcher
Tejas Prasanna, undergraduate researcher
August 1989 | The Pennsylvania State University, University Park, PA | BS Biochemistry
August 1997 | The University of Wisconsin-Madison | PhD Environmental Toxicology
October 2002 | The National Institute of Child Health Human Development/National Institutes of Health, Bethesda, MD | Postdoctoral Fellowship in Developmental Biology