Bergen Ophthalmogenetic Research Group
Hereditary eye disorders are a major cause of visual impairment in children and adolescents. Genetic factors are also important for the development of eye disorders in adult life. Pinpointing genetic causes of eye disorders is pivotal for precise diagnosis and is essential for rational management and the development of effective therapies.
About the research group
The Bergen Ophthalmogenetic Research Group is a collaborative effort between investigators at the University of Bergen and Haukeland University Hospital. The research group aims to uncover the genetic origins of hereditary eye disorders and explore the consequences at a cellular and molecular level, both in patients and model organisms. The aim is to advance precise diagnostics and foster the development of targeted, innovative therapies.
Financial support
Regional Health Authority Western Norway (Helse Vest), The Norwegian Research Council, Jon S Larsen Foundation, The Norwegian Retinitis Pigmentosa Association, The Norwegian Association of the Blind and Visually Impaired, University of Bergen, and Haukeland University Hospital.
Group members and collaborators
Dept. of Ophthalmology, Haukeland University Hospital / Dept. of Clinical Medicine, University of Bergen:
- Professor Cecilie Bredrup
- Postdoc Ileana Cristea
- PhD candidate Titas Gladkauskas
- Professor Olav Haugen
- Professor Gunnar H酶vding
- Consultant Ragnhild W. Jansson
- Technician Unni Larsen
- Consultant Anne E. C. Mellgren
- PhD candidate Linda Xu
- Professor Eyvind R酶dahl (PI)
Dept. of Medical Genetics, Haukeland University Hospital / Dept. of Clinical Science, University of Bergen:
- Postdoc Sigrid Aslaksen
- Researcher Ingvild Aukrust
- Researcher Ove Bruland
- Consultant Sofia Douzgou Houge
- Professor Gunnar Douzgos Houge
- Professor Per Knappskog
- PhD candidate Roya Mehrasa
Publications
Noteworthy Research Outputs (2018-2023)
- Gladkauskas T, Bruland O, Abu Safieh L, Edward DP, R酶dahl E, Bredrup C. Corneal Vascularization Associated with a Novel PDGFRB Variant. Invest Ophthalmol Vis Sci. 2023;64:9. doi:
- Mehrasa R, Cristea I, Bredrup C, R酶dahl E, Bruland O. Functional characterization of all-trans retinoic acid-induced differentiation factor (ATRAID). FEBS Open Bio. 2023;13:1874-1886. .
- Cristea I, Abarca H, Christensen Mellgren AE, Trubnykova M, Mehrasa R, Peters DJM, Houge G, Hennekam RCM, R酶dahl E, Bruland O, Bredrup C. A Pellino-2 variant is associated with constitutive NLRP3 inflammasome activation in a family with ocular pterygium-digital keloid dysplasia. FEBS Lett. 2023;597:1290-1299.
- Cristea I, Bruland O, Aukrust I, R酶dahl E, Bredrup C. Pellino-2 in nonimmune cells: novel interaction partners and intracellular localization. FEBS Lett. 2021; 595:2909-2921.
- Cristea I, Bruland O, R酶dahl E, Bredrup C. K+ regulates relocation of Pellino-2 to the site of NLRP3 inflammasome activation in macrophages. FEBS Lett. 2021; 595:2437-2446.
- Bredrup C, Cristea I, Safieh LA, Di Maria E, Gjertsen BT, Tveit KS, Thu F, Bull N, Edward DP, Hennekam RCM, H酶vding G, Haugen OH, Houge G, R酶dahl E, Bruland O. Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions. Hum Mol Genet. 2021;30:72-77.
- Bredrup C, Stokowy T, McGaughran J, Lee S, Sapkota D, Cristea I, Xu L, Tveit KS, H酶vding G, Steen VM, R酶dahl E, Bruland O, Houge G. A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria- like condition in the severe end of Penttinen syndrome. Eur J Hum Genet. 2019; 27:574-581.
- Xu L, Jensen H, Johnston JJ, Di Maria E, Kloth K, Cristea I, Sapp JC, Darling TN, Huryn LA, Tranebj忙rg L, Cinotti E, Kubisch C, R酶dahl E, Bruland O, Biesecker LG, Houge G, Bredrup C. Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome. Am J Hum Genet. 2018;103:976-983.
People
Group manager
Eyvind R酶dahl Emeriti
Cecilie Bredrup Professor