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. Identification of the genetic cause of eye disorders is important for precise diagnosis and is essential for rational management and development of novel therapies.
The Bergen Ophthalmogenetic Research Group is a collaborative effort between investigators at the University of Bergen and Haukeland University Hospital.
The aim of the group is to identify genetic causes of eye disorders and to study the consequences of the genetic defects at a cellular and molecular level both in patients and model organisms.
Dept. of Ophthalmology/Dept. of Clinical Medicine:
- Cecilie Bredrup
- Olav Haugen
- Gunnar Høvding
- Ragnhild W. Jansson
- Unni Larsen
- Anne E. C. Mellgren
- Eyvind Rødahl (PI)
- Roya Mehrasa
- Linda Xu
- Ileana Cristea-Osuagwu
Center for Medical Genetics and Molecular Medicine/Dept. of Clinical Science:
- Ove Bruland
- Gunnar Houge
- Stefan Johansson
- Per Knappskog
- Ingvild Aukrust
Institute of Biology:
- Jon Vidar Helvik
Regional Health Authority Western Norway (Helse Vest), University of Bergen, and Haukeland University Hospital.
Xu L, Jensen H, Johnston JJ, Di Maria E, Kloth K, Cristea I, Sapp JC, Darling TN, Huryn LA, Tranebjærg L, Cinotti E, Kubisch C, Rødahl 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 Nov 8. pii: S0002-9297(18)30365-3. doi: 10.1016/j.ajhg.2018.10.013. [Epub ahead of print]
Solheim MH, Clermont AC, Winnay JN, Hallstensen E, Molven A, Njølstad PR, Rødahl E, Kahn CR. Iris Malformation and Anterior Segment Dysgenesis in Mice and Humans With a Mutation in PI 3-Kinase. Invest Ophthalmol Vis Sci. 2017, 58:3100-3106.
Macia MS, Halbritter J, Delous M, Bredrup C, Gutter A, Filhol E, Mellgren AEC, Leh S, Bizet A, Braun DA, Gee HY, Silbermann F, Henry C, Krug P, Bole-Feysot C, Nitschké P, Joly D, Nicoud P, Paget A, Haugland H, Brackmann D, Ahmet N, Sandford R, Cengiz N, Knappskog PM, Boman H, Linghu B, Yang F, Oakeley EJ, Saint Mézard P, Sailer AW, Johansson S, Rødahl E, Saunier S, Hildebrandt F, Benmerah A. Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. Am J Hum Genet. 2017,100:323-333.
Bredrup C, Johansson S, Bindoff LA, Sztromwasser P, Kråkenes J, Mellgren AEC, Brurås KR, Lind O, Boman H, Knappskog PM, Rødahl E. High myopia-excavated optic disc anomaly associated with a frame-shift mutation in the MYC-binding protein 2 gene (MYCBP2). Am J Ophthalmol 2015; 159:973-9.
Mellgren AEC, Bruland O, Vedeler A, Saraste J, Schönheit J, Bredrup C, Knappskog PM, Rødahl E. Development of congenital stromal corneal dystrophy is dependent on export and extracellular deposition of truncated decorin. Invest Ophthalmol Vis Sci 2015; 56: 2909-15.