Eye Genetics Group
Inherited eye diseases are complex and numerous group of sight-threatening conditions. The focus of the research group is a detailed clinical phenotypic characterization of genetic eye diseases, gene discovery, functional testing of variants in laboratory assays, and ultimately development treatments. We utilize up-to-date genetics methods including exome, whole-genome, and long-read sequencing. We perform chemical and cellular assays as well as use CRISPR/CAS9-technology.
Uveal melanoma genetics and BAP1 cancer syndrome: Uveal melanoma is the most common primary intraocular cancer. It metastasizes in approximately one-half of patients. For reasons unknown, the incidence of uveal melanoma is highest in northern latitudes. In Finland, all uveal melanoma patients are treated in the Helsinki University Hospital. Therefore, we have a population-wide patient collection. We have reported that 2% of Finnish uveal melanoma patients harbor a mutation in the BAP1 gene, but this explains only 25% of familial cases. Currently, we are functionally characterizing the Finnish variants in the BAP1 gene. Furthermore, we are searching for new genes predisposing to uveal melanoma using next-generation sequencing techniques.
Inherited corneal diseases: Our latest discovery is the gene behind keratitis fugax hereditaria, peculiar periodic corneal autoinflammation. The variant in the inflammasome gene NLRP3 causes this syndrome, and currently, we are functionally testing the effects of this variant in peripheral white cells, and examine potential treatments. Furthermore, we are investigating several corneal dystrophies (TGFBI-dystrophies, posterior polymorphous corneal dystrophy, Fuchs corneal dystrophy) to elucidate their genetic background in Finland
Inherited retinal diseases: Approximately 60-70% of inherited retinal dystrophies, including retinitis pigmentosa and macular dystrophy, are genetically solved. We are collecting DNA samples and phenotypic information for the large-scale discovery of new variants and genes behind genetically unsolved diseases.
Early-onset glaucoma: We are investigating the genetic background of juvenile open-angle glaucoma. We will utilize exome sequencing to identify new glaucoma genes.
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Michael Backlund, PhD, senior post-doctoral researcher
Pauliina Repo, PhD Researcher
Sabita Kawan, PhD Researcher
Inka Penttinen, PhD Researcher
Perttu Liuska, MD, PhD
Heidi Putkuri, MSc Student
Juho Peltonen, bioinformatician
Sara Mikkonen, PhD Researcher
Elsa-Leea Kotola, MD PhD Student
Annamari Immonen, PhD Researcher, optometrist
Julia Krootila, MD student
Aleksandra Staskiewicz, MSc student
Annika Lipponen, research nurse
Karoliina Ahtola, research nurse
Repo PE, Backlund MP, Kivelä TT, Turunen JA.
Functional assay for assessment of pathogenicity of BAP1 variants.
Hum Mol Genet. 2023 Nov 13. Online ahead of print.
Liuska PJ, Rämö JT, Lemmelä S, Kaarniranta K, Uusitalo H, Lahtela E, Daly MJ, Harju M, Palotie A, Turunen JA; FinnGen Study.
Association of APOE Haplotypes With Common Age-Related Ocular Diseases in 412,171 Individuals.
Invest Ophthalmol Vis Sci. 2023 Nov 1;64(14):33.
Kurki MI, Karjalainen J, Palta P, Sipilä TP, Kristiansson K, Donner KM, Reeve MP, Laivuori H, Aavikko M, Kaunisto MA, Loukola A, Lahtela E, Mattsson H, Laiho P, Della Briotta Parolo P, Lehisto AA, Kanai M, Mars N, Rämö J, Kiiskinen T, Heyne HO, Veerapen K, Rüeger S, Lemmelä S, Zhou W, Ruotsalainen S, Pärn K, Hiekkalinna T, Koskelainen S, Paajanen T, Llorens V, Gracia-Tabuenca J, Siirtola H, Reis K, Elnahas AG, Sun B, Foley CN, Aalto-Setälä K, Alasoo K, Arvas M, Auro K, Biswas S, Bizaki-Vallaskangas A, Carpen O, Chen CY, Dada OA, Ding Z, Ehm MG, Eklund K, Färkkilä M, Finucane H, Ganna A, Ghazal A, Graham RR, Green EM, Hakanen A, Hautalahti M, Hedman ÅK, Hiltunen M, Hinttala R, Hovatta I, Hu X, Huertas-Vazquez A, Huilaja L, Hunkapiller J, Jacob H, Jensen JN, Joensuu H, John S, Julkunen V, Jung M, Junttila J, Kaarniranta K, Kähönen M, Kajanne R, Kallio L, Kälviäinen R, Kaprio J; FinnGen; Kerimov N, Kettunen J, Kilpeläinen E, Kilpi T, Klinger K, Kosma VM, Kuopio T, Kurra V, Laisk T, Laukkanen J, Lawless N, Liu A, Longerich S, Mägi R, Mäkelä J, Mäkitie A, Malarstig A, Mannermaa A, Maranville J, Matakidou A, Meretoja T, Mozaffari SV, Niemi MEK, Niemi M, Niiranen T, O Donnell CJ, Obeidat ME, Okafo G, Ollila HM, Palomäki A, Palotie T, Partanen J, Paul DS, Pelkonen M, Pendergrass RK, Petrovski S, Pitkäranta A, Platt A, Pulford D, Punkka E, Pussinen P, Raghavan N, Rahimov F, Rajpal D, Renaud NA, Riley-Gillis B, Rodosthenous R, Saarentaus E, Salminen A, Salminen E, Salomaa V, Schleutker J, Serpi R, Shen HY, Siegel R, Silander K, Siltanen S, Soini S, Soininen H, Sul JH, Tachmazidou I, Tasanen K, Tienari P, Toppila-Salmi S, Tukiainen T, Tuomi T, Turunen JA, Ulirsch JC, Vaura F, Virolainen P, Waring J, Waterworth D, Yang R, Nelis M, Reigo A, Metspalu A, Milani L, Esko T, Fox C, Havulinna AS, Perola M, Ripatti S, Jalanko A, Laitinen T, Mäkelä TP, Plenge R, McCarthy M, Runz H, Daly MJ, Palotie A.
FinnGen provides genetic insights from a well-phenotyped isolated population.
Nature. 2023 Jan;613(7944):508-518.
Kawan S, Backlund MP, Immonen AT, Kivelä TT, Turunen JA.
Functional consequences of pathogenic variant c.61G>C in the inflammasome gene NLRP3 underlying keratitis fugax hereditaria.
Br J Ophthalmol. 2022 Nov 16:bjophthalmol-2022-321825.
Immonen AT, Kawan S, Vesaluoma M, Heiskanen JM, Taipale C, Koskinen M, Majander A, Kivelä TT, Turunen JA.
Clinical Spectrum and Geographic Distribution of Keratitis Fugax Hereditaria Caused by the Pathogenic Variant c.61G>C in NLRP3.
Am J Ophthalmol. 2021 Nov 3;236:309-318.
Liuska PJ, Lemmelä S, Havulinna AS, Kaarniranta K, Uusitalo H, Laivuori H, Kiiskinen T, Daly MJ, Palotie A, Turunen JA; FinnGen Consortium.
Association of the MYOC p.(Gln368Ter) Variant With Glaucoma in a Finnish Population.
JAMA Ophthalmol. 2021 Jul 1;139(7):762-768.
Turunen JA, Immonen AT, Järvinen RS, Kawan S, Repo P, Korsbäck A, Ala-Fossi O, Jaakkola AM, Majander A, Vesaluoma M, Kivelä TT.
In Vivo Corneal Confocal Microscopy and Histopathology of Keratitis Fugax Hereditaria From a Pathogenic Variant in NLRP3.
Am J Ophthalmol. 2020 May;213:217-225.
Repo P, Järvinen RS, Jäntti JE, Markkinen S, Täll M, Raivio V, Turunen JA, Kivelä TT.
Population-based analysis of BAP1 germline variations in patients with uveal melanoma.
Hum Mol Genet. 2019 Jul 15;28(14):2415-2426.
Turunen JA, Wedenoja J, Repo P, Järvinen RS, Jäntti JE, Mörtenhumer S, Riikonen AS, Lehesjoki AE, Majander A, Kivelä TT.
Keratoendotheliitis Fugax Hereditaria: A Novel Cryopyrin-Associated Periodic Syndrome Caused by a Mutation in the Nucleotide-Binding Domain, Leucine-Rich Repeat Family, Pyrin Domain-Containing 3 (NLRP3) Gene.
Am J Ophthalmol. 2018 Apr;188:41-50.
Turunen JA, Markkinen S, Wilska R, Saarinen S, Raivio V, Täll M, Lehesjoki AE, Kivelä TT.
BAP1 Germline Mutations in Finnish Patients with Uveal Melanoma.
Ophthalmology. 2016 May;123(5):1112-7.
Tero Kivelä, MD PhD, FEBO, professor of ophthalmology
Anna Majander MD PhD, pediatric ophthalmologist
Virpi Raivio MD PhD, ocular oncologist and vitreoretinal surgeon
Minna Vesaluoma, MD PhD, cornea specialist
Kari Krootila, MD PhD, anterior segment surgeon
Mika Harju, MD PhD, professor
Hannes Lohi, PhD, professor
Maria Kaukonen, post-doctoral researcher
Heli Skottman, PhD, professor
