Lev Prasov Lab
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.
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]