Eye Genetics
Our research
The group combines clinical ophthalmology, ophthalmic pathology, imaging, genetics, and bioinformatics expertise to improve diagnostics, genetic counseling, and treatment development. The research is especially relevant in Finland, which has a unique population history.
The Helsinki University Hospital is a national referral center for many rare and complex eye diseases.
The group has identified genetic causes for various inherited eye diseases, including inherited corneal and retinal diseases, early-onset glaucoma, and BAP1 tumor predisposition syndrome. The group has also phenotypically characterized rare diseases such as Keratitis fugax hereditaria and contributed to the FinnGen project, utilizing biobank data to study glaucoma and other eye diseases. In addition, the group has developed cellular models and tested pathogenic variants to improve clinical decision-making.
The research aims to achieve several key objectives. First, it seeks to provide detailed clinical and molecular profiling of inherited eye diseases in Finland. Second, it focuses on identifying causative genes using short- and long-read genome sequencing. Third, it investigates disease mechanisms at a cellular level. Fourth, it explores gene therapies and animal models for treatment. Lastly, it applies genetic knowledge by utilizing polygenic risk scores for clinical decision-making in complex eye diseases.
The work plan includes expanding the patient database across Finland and collecting family data for genetic analysis. It involves employing advanced sequencing technologies to identify structural and non-coding variants. The group is also establishing zebrafish models, such as those for CERKL-associated retinopathy, and collaborating on gene therapy approaches. Furthermore, they aim to evaluate the role of polygenic risk scores in glaucoma treatment.
The scientific and societal impact of this research is significant. It enhances diagnostics and provides explanations for patients and families affected by inherited eye diseases. Improved genetic counseling, targeted referrals, and better treatment pathways are expected outcomes. The research also contributes to increasing public awareness of rare inherited eye diseases and reducing healthcare costs through more effective diagnostics.
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Group Leader
Joni A. Turunen
Postdoctoral Researcher
Michael Backlund
Doctoral Researchers
Annamari Immonen
Sabita Kawan
Konsta Kesti
Elsa-Leea Kotola
Olivia Linja
Sara Mikkonen
Inka Penttinen
Pauliina Repo
Manisai Vallapu
Undergraduate Student
Julia Krootila
Staff
Karoliina Ahtola
Annika Lipponen
Juho Peltonen
A retrospective longitudinal study of 52 Finnish patients with X-linked retinoschisis.
Järvinen MA, Baraas RC, Majander A, Backlund MP, Krootila J, Paavo M, Lindahl P, Vasara K, Sankila EM, Kivelä TT, Turunen JA. Acta Ophthalmologica. 2024.
Characterisation of a LINE-1 Insertion in the RP1 Gene by Targeted Adaptive Nanopore Sequencing in a Family with Retinitis Pigmentosa.
Backlund MP, Repo P, Kangas H, Donner K, Sankila EM, Krootila J, Paavo M, Wartiovaara K, Kivelä TT, Turunen JA. Hum Mut. 2024.
Functional assay for assessment of pathogenicity of BAP1 variants.
Repo PE, Backlund MP, Kivelä TT, Turunen JA. Human Molecular Genetics. 2023. Online ahead of print.
Epithelial recurrent erosion dystrophy (ERED) from the splice site altering COL17A1 variant c.3156C>T in families of Finnish-Swedish ancestry.
Turunen JA, Tuisku IS, Repo P, Mörtenhumer S, Kawan S, Järvinen RS, Korsbäck A, Immonen AT, Kivelä TT. Acta Ophthalmologica. 2023.
Analysis of glaucoma genes in Finnish patients with juvenile open-angle glaucoma.
Liuska PJ, Tadji A, Repo P, Hiltunen J, Backlund M, Järvinen RS, Ojanen E, Majander A, Kivelä TT, Harju M, Turunen JA. Acta Ophthalmologica. 2023.
FinnGen provides genetic insights from a well-phenotyped isolated population.
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. Nature. 2023.
Functional consequences of pathogenic variant c.61G>C in the inflammasome gene NLRP3 underlying keratitis fugax hereditaria.
Kawan S, Backlund MP, Immonen AT, Kivelä TT, Turunen JA. British Journal of Ophthalmology. 2022.
Biomarkers of retinal dystrophy caused by the biallelic TULP1 gene variant c.148delG.
Majander A, Sankila EM, Falck A, Vasara LK, Seitsonen S, Kulmala M, Haavisto A-K, Avela K, Turunen JA. Acta Ophthalmology. 2023.
Clinical Spectrum and Geographic Distribution of Keratitis Fugax Hereditaria Caused by the Pathogenic Variant c.61G>C in NLRP3.
Immonen AT, Kawan S, Vesaluoma M, Heiskanen JM, Taipale C, Koskinen M, Majander A, Kivelä TT, Turunen JA. American Journal of Ophthalmology. 2021.
Association of the MYOC p.(Gln368Ter) Variant With Glaucoma in a Finnish Population.
Liuska PJ, Lemmelä S, Havulinna AS, Kaarniranta K, Uusitalo H, Laivuori H, Kiiskinen T, Daly MJ, Palotie A, Turunen JA; FinnGen Consortium. JAMA Ophthalmology. 2021.
Tero Kivelä, MD PhD, FEBO, Professor of Ophthalmology
Anna Majander MD PhD, Pediatric Ophthalmologist
Minna Vesaluoma, MD PhD, Cornea Specialist
Kari Krootila, MD PhD, Anterior Segment Surgeon
Mika Harju, MD PhD, Professor
Hannes Lohi, PhD, Professor
Heli Skottman, PhD, Professor
Maria Kaukonen, DVM PhD
Nina Mars MD PhD, Associate Professor
Soile Nymark PhD, Associate Professor
Petri Ala-Laurila, Professor
Contact us
Joni A. Turunen
Group Leader
+358 50 544 9088