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Gene and Pathway Discovery in Inherited Eye Disease
Gene and Pathway Discovery in Inherited Eye Disease
The Prasov lab seeks to identify novel genes and pathways in inherited ocular conditions with the hope of developing or improving therapies for these conditions. We use a combination of human genetics and mammalian and cell culture models to identify and validate disease genes and to identify novel pathways for pathogenesis. Our aim is to bring back these discoveries to our patients and aid in the diagnosis and treatment of their conditions. We collaborate extensively with basic researchers and clinicians at the University of Michigan and across the world.
Featured publications:
Featured publications:
Serpen JY*, Presley W*, Beil A, Armenti ST, Johnson K, Mian SI, Innis JW, Prasov L. A Novel 13q12 Microdeletion Associated with Familial Syndromic Corneal Opacification. Genes (Basel). 2023;14(5). Epub 20230501. doi: 10.3390/genes14051034. PubMed PMID: 37239394; PMCID: PMC10218699. [PDF] *co-first author.
Parekh B, Beil A, Blevins B, Jacobson A, Williams P, Innis JW, Barone Pritchard A, Prasov L. Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic. Genes (Basel). 2023;14(3). Epub 20230315. doi: 10.3390/genes14030726. PubMed PMID: 36980998; PMCID: PMC10048684. [PDF]
Prasov L*, Bohnsack BL, El Husny AS, Tsoi LC, Guan B, Kahlenberg JM, Almeida E, Wang H, Cowen EW, De Jesus AA, Jani P, Billi AC, Moroi SE, Wasikowski R, Almeida I, Almeida LN, Kok F, Garnai SJ, Mian SI, Chen MY, Warner BM, Ferreira CR, Goldbach-Mansky R, Hur S, Brooks BP, Richards JE, Hufnagel RB, Gudjonsson JE. DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation. J Med Genet. 2021. Epub 2021/01/27. doi: 10.1136/jmedgenet-2020-107447. PMID: 33495304. *-corresponding author
Prasov L*, Guan B, Ullah E, Archer SM, Ayres BM, Besirli CG, Wiinikka-Buesser L, Comer G, Del Monte MA, Elner SE, Garnai, SJ, Huryn, LA, Johnson K, Kamat SS, Lieu P, Mian SI, Rygiel C, Serpen JY, Pawar H, Brooks BP, Moroi, SE, Richards JE, and Hufnagel RB* (2020). “The genetic landscape of high hyperopia and nanophthalmos: novel TMEM98, MFRP, PRSS56 variants in a large United States cohort.” Scientific Reports. 2020 Nov 17;10(1):19986. PMID: 33203948. [PDF] *-co-corresponding
Garnai SJ*, Brinkmeier ML*, Emery B, Aleman TS, Pyle LC, Veleva-Rotse B, Sisk RA, Rozsa FW, Ozel AB, Li JZ, Moroi SE, Archer SM, Lin CM, Sheskey S, Wiinikka-Buesser L, Eadie J, Urquhart JE, Black GCM, Othman MI, Boehnke M, Sullivan SA, Skuta GL, Pawar HS, Katz A, Huryn LA, Hufnagel RB, The Genomic Ascertainment Cohort, Camper SA, Richards JE, Prasov L. “Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice” PLoS Genetics. 2019, 15(5):e1008130. PMID: 31048900. [PDF]
Carricondo PC, Andrade T, Prasov L, Ayres BM, Moroi SE. “Nanophthalmos: A review of the clinical spectrum and genetics.” J. Ophthalmol. 2018:2735465 E-collection. PMID: 29862063. PMC5971257. [PDF]
Support the Future of Vision Care
The Prasov Lab is working to improve children’s vision through comprehensive multidisciplinary clinical care and through innovative research. This vital work is fueled by the generosity of our donors, and you can help ensure it continues with your gift today. To donate, simply visit https://victors.us/PrasovLab.
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