Genomics, Genetics and Epigenetics Laboratory
Research Areas
Genetic studies of Human Ocular Disorders
Ocular development is a complex process requiring carefully orchestrated differentiation of cells. Study of the genetic causes of pediatric/early onset conditions provides important insight into the mechanisms of normal development and disease. For affected families, identification of a genetic cause provides more accurate diagnosis and medical management.
Developmental Genomics Program
Many genes important in early development are active in many parts of the body. Disruption of one of these genes can cause multiple congenital anomaly (MCA) syndromes. The current diagnosis rate for exome sequencing in MCA syndromes varies from 15-50% in different settings, indicating that additional causes remain to be identified. Through analysis of samples from affected families as well as work in zebrafish and iPSC cell lines, we aim to expand understanding of known developmental genes and identify new genes important in early development.
Meet Our Team
Elena Semina, PhD
Marjorie and Joseph Heil Professor of Ophthalmology & Visual Sciences; Professor, Pediatrics; Professor, Cell Biology, Neurobiology and Anatomy
Isabelle Banke, BS
Clinical Research Coordinator II
Kailey Frank, BS
Research Technologist II
Megan Fischer
G2 Student
Justin Freestone
Graduate Student
Gary Gardner
Research Technologist I
Linda Reis, MS, LCGC
Program Manager; Adjunct Instructor
Maria R. Replogle, PhD
Research Scientist I
Sarah Seese, PhD
Research Scientist I
Elena A. Sorokina, MS
Research Scientist I
Samuel Thompson
Research Technologist III
Publications
Ferre-Fernández JJ, Reis LM, Semina EV. . Hum Genomics. 2025 Mar 29;19(1):33. PMID: 40158102
Reis LM, Basel D, Bitoun P, Walton DS, Glaser T, Semina EV. . Genes (Basel). 2024 Dec 20;15(12):1636. PMID: 39766903 PMCID: PMC11675438
Ceroni F, Cicekdal MB, Holt R, Sorokina E, Chassaing N, Clokie S, Naert T, Talbot LV, Muheisen S, Bax DA, Kesim Y, Kivuva EC, Vincent-Delorme C, Lienkamp SS, Plaisancié J, De Baere E, Calvas P, Vleminckx K, Semina EV, Ragge NK. . Nat Commun. 2024 Oct 26;15(1):9245. doi: 10.1038/s41467-024-53553-2. PMCID: PMC11511899
Reis LM, Zaidman GW, Thompson S, Muheisen S, Glaser T, Semina EV. Am J Med Genet A. 2024 Oct 25:e63911. Online ahead of print. PMCID: PMC11821440
Reis LM, Seese SE, Costakos D, Semina EV. . Prog Retin Eye Res. 2024 Sep;102:101288. Epub 2024 Aug 2. PMCID: PMC11392650
Replogle MR, Thompson S, Reis LM, Semina EV. . 2024;2024. PMCID: PMC11501074
Farris J, Khanna C, Smadbeck JB, Johnson SH, Bothun E, Kaplan T, Hoffman F, Polonis K, Oliver G, Reis LM, Semina EV, Rust L, Hoppman NL, Vasmatzis G, Marcou CA, Schimmenti LA, Klee EW. Am J Med Genet A. 2024 May;194(5):e63542. PMCID: PMC11003841
Untaroiu A, Reis LM, Higgins BP, Walesa A, Zacharias S, Nikezic D, Costakos DM, Carroll J, Semina EV. Invest Ophthalmol Vis Sci. 2024 Apr 01;65(4):20. PMCID: PMC11005067
Reis LM, Maheshwari M, Capasso J, Atilla H, Dudakova L, Thompson S, Zitano L, Lay-Son G, Lowry RB, Black J, Lee J, Shue A, Kremlikova Pourova R, Vaneckova M, Skalicka P, Jedlickova J, Trkova M, Williams B, Richard G, Bachman K, Seeley AH, Costakos D, Glaser TM, Levin AV, Liskova P, Murray JC, Semina EV. . J Med Genet. 2023 Apr;60(4):368-379. PMCID: PMC9912354
Reis LM, Chassaing N, Bardakjian T, Thompson S, Schneider A, Semina EV. . Eur J Hum Genet. 2023 Mar;31(3):363-367. PMCID: PMC9995503
Daruich A, Duncan M, Robert MP, Lagali N, Semina EV, Aberdam D, Ferrari S, Romano V, des Roziers CB, Benkortebi R, De Vergnes N, Polak M, Chiambaretta F, Nischal KK, Behar-Cohen F, Valleix S, Bremond-Gignac D. . Prog Ret