Contributions to Public Health
- Improving mechanistic understanding of AVM development in HHT: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease caused by disruption of endoglin/ALK1 signaling. It affects at least 1 in 5000 people worldwide. People with HHT develop arteriovenous malformations (AVMs), or direct connections between arteries and veins, that can cause anemia, stroke, or heart failure. Using zebrafish and cell culture models of HHT, we discovered that hemodynamic force interacts with ALK1 signaling to control ALK1 expression, endothelial cell migration, and AVM site selection and growth.
- Anzell AR, Kunz AB, Donovan JP, Tran TG, Lu X, Young S, Roman BL. Blood flow regulates acvrl1 transcription via ligand-dependent Alk1 activity. Angiogenesis. 2024 Aug;27(3):501-522. doi: 10.1007/s10456-024-09924-w. Epub 2024 May 10. PMID: 38727966.
- Rochon ER, Menon PG, Roman BL. Alk1 controls arterial endothelial cell migration in lumenized vessels. Development. 2016 Jul 15;143(14):2593-602. doi: 10.1242/dev.135392. Epub 2016 Jun 10. PMID: 27287800; PMCID: PMC4958337.
- Developing therapies for HHT: We are exploring ways to activate and restore ALK1 signaling using endogenous and engineered ligands. Our mechanistic studies of ALK1 ligand requirements and processing will support development of first-in-class HHT therapeutics to prevent or reverse AVMs in HHT.
- Schwartze TA, Morosky SA, Rosato TL, Henrickson A, Lin G, Hinck CS, Taylor AB, Olsen SK, Calero G, Demeler B, Roman BL, Hinck AP. Molecular Basis of Interchain Disulfide Bond Formation in BMP-9 and BMP-10. J Mol Biol. 2025 Feb 15;437(4):168935. doi: 10.1016/j.jmb.2025.168935. Epub 2025 Jan 8. PMID: 39793884.
- Capasso TL, Li B, Volek HJ, Khalid W, Rochon ER, Anbalagan A, Herdman C, Yost HJ, Villanueva FS, Kim K, Roman BL. BMP10-mediated ALK1 signaling is continuously required for vascular development and maintenance. Angiogenesis. 2020 May;23(2):203-220. doi: 10.1007/s10456-019-09701-0. Epub 2019 Dec 11. PMID: 31828546; PMCID: PMC7165044.
- 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 provides care for over 100 HHT patients.
- 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, 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.
Education
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
Teaching
HUGEN 2040 Molecular Basis of Human Inherited Disease
