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Prof. A.A.B. Bergen PhD

Position
MD-PhD
Main activities
Research
Specialisation
Complex genetics of ophthalmic disorders
Focus of research

The focus of my group is to elucidate the complex genetics of ophthalmogenetic disorders and to develop rational, genomics-driven diagnostics and therapies

Key publications
  • Janssen Sarah F., Gorgels Theo G. M. F., Ramdas Wishal D., Klaver Caroline C. W., van Duijn Cornelia M., Jansonius Nomdo M., Bergen Arthur A. B. The vast complexity of primary open angle glaucoma: disease genes, risks, molecular mechanisms and pathobiology Progress in retinal and eye research 2013;37:31-67 [PubMed]
  • Springelkamp Henriët, Höhn René, Mishra Aniket, Hysi Pirro G., Khor Chiea-Chuen, Loomis Stephanie J., Bailey Jessica N. Cooke, Gibson Jane, Thorleifsson Gudmar, Janssen Sarah F., Luo Xiaoyan, Ramdas Wishal D., Vithana Eranga, Nongpiur Monisha E., Montgomery Grant W., Xu Liang, Mountain Jenny E., Gharahkhani Puya, Lu Yi, Amin Najaf, Karssen Lennart C., Sim Kar-Seng, van Leeuwen Elisabeth M., Iglesias Adriana I., Verhoeven Virginie J. M., Hauser Michael A., Loon Seng-Chee, Despriet Dominiek D. G., Nag Abhishek, Venturini Cristina, Sanfilippo Paul G., Schillert Arne, Kang Jae H., Landers John, Jonasson Fridbert, Cree Angela J., van Koolwijk Leonieke M. E., Rivadeneira Fernando, Souzeau Emmanuelle, Jonsson Vesteinn, Menon Geeta, Weinreb Robert N., de Jong Paulus T. V. M., Oostra Ben A., Uitterlinden André G., Hofman Albert, Ennis Sarah, Thorsteinsdottir Unnur, Burdon Kathryn P., Bergen Arthur A. B. Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process Nature communications 2014;5:4883 [PubMed]
  • Bergen Arthur A., Kaing Sovann, ten Brink Jacoline B., Gorgels Theo G., Janssen Sarah F. Gene expression and functional annotation of human choroid plexus epithelium failure in Alzheimer's disease BMC genomics 2015;16 (1):956 [PubMed]
  • Colijn Johanna M., Buitendijk Gabriëlle H. S., Prokofyeva Elena, Alves Dalila, Cachulo Maria L., Khawaja Anthony P., Cougnard-Gregoire Audrey, Merle Bénédicte M. J., Korb Christina, Erke Maja G., Bron Alain, Anastasopoulos Eleftherios, Meester-Smoor Magda A., Segato Tatiana, Piermarocchi Stefano, de Jong Paulus T. V. M., Vingerling Johannes R., Topouzis Fotis, Creuzot-Garcher Catherine, Bertelsen Geir, Pfeiffer Norbert, Fletcher Astrid E., Foster Paul J., Silva Rufino, Korobelnik Jean-François, Delcourt Cécile, Klaver Caroline C. W., Ajana Soufiane, Arango-Gonzalez Blanca, Arndt Verena, Bhatia Vaibhav, Bhattacharya Shomi S., Biarnés Marc, Borrell Anna, Bühren Sebastian, Calado Sofia M., Cougnard-Grégoire Audrey, Dammeier Sascha, de Jong Eiko K., de la Cerda Berta, den Hollander Anneke I., Diaz-Corrales Francisco J., Diether Sigrid, Emri Eszter, Endermann Tanja, Ferraro Lucia L., Garcia Míriam, Heesterbeek Thomas J., Honisch Sabina, Bergen Arthur Prevalence of Age-Related Macular Degeneration in Europe Ophthalmology 2017;124 (12):1753-1763 [PubMed]
  • Bergen Arthur A, Arya Swati, Koster Céline, Pilgrim Matthew G, Wiatrek-Moumoulidis Dagmara, van der Spek Peter J, Hauck Stefanie M, Boon Camiel J F, Emri Eszter, Stewart Alan J, Lengyel Imre On the origin of proteins in human drusen: The meet, greet and stick hypothesis Progress in retinal and eye research 2019;70:55-84 [PubMed]
All Publications
Research programmes

Prof. A.A.B. Bergen PhD (Molecular etiology of complex genetic retinal disorders)

The aim of my group is to elucidate the molecular pathology of genetic retinal disorders. In the past, we successfully identified retinal disease genes (RP12, PXE and others), brought at least one disease (PXE) from gene mapping, gene identification, mouse model, functional characterisation toward now ongoing clinical trials, and made innovative molecular models for retinitis pigmentosa, age-related macular degeneration (ZonMW pearl prize) and glaucoma. 

We currently focus on diseases of the retinal pigment epithelium (RPE; age-related macular degeneration, retinitis pigmentosa) and ganglion cells (glaucoma).We have made reliable molecular models for these diseases, and we are now applying these to develop genomics-directed personalized medicine, advanced molecular diagnostics, and/or therapies. Depending on the research question, we use(d) a variety of methodologies and technologies, including human, mouse and zebrafish genetics, genomics, bioinformatics and functional assays.

After I came to the AMC in 2014, we set up, largely externally financed, IPS-stem-cell-to-RPE-differentiation cultures (retina's in a dish) and a brand-new, non- invasive, visual screening facility for small animal models. This facility includes SLO, OCT and ERG apparatus and technology. Together, the new stem cell cultures and visual screening facility greatly enhance our possibilities to study retinal disorders in vitro and in vivo, and paves the way for the development of experimental cell and gene therapies of genetic eye disorders. Indeed, we recently injected our IPS stem cell derived RPE cells successfully subretinally in suitable animal models for age-related macular degeneration, as a first step toward high quality experimental therapy. Our new visual screening facility for small animal models has also stirred up quite some collaborative interest form researchers working on (visual aspects of) genetic metabolic diseases, AMC), neurodegenerative disease (Alzheimer I-read centre, MS, VUMC location) and the retinoblastoma expertise center (VUMC, NKI). The results of our work are further enhanced by a multitude of national and international collaborations. In the UAMC location AMC , we have collaborations with the department of GMZ, peadatrics, ophthalmology,  neurology, experimenta cardiology, medical virology,  experimental neuro-endocrinology and the organoid centre. 

Together with Prof dr CJF Boon (Ophthalmology department) we will start the first ocular genetherapy trial in the UAMC (CEP290 type retinitis pigmentosa) in 2019.
 

Postdocs
R.J. Florijn PhD
A.L.M.A. ten Asbroek MEng PhD

PhD Students
V. Lo Faro
S.T. Shumet

Others
J.B. ten Brink

Current research funding
  • AMC
  • AMC (Vrijgesteld)
  • Rotterdamse Stichting Blindenbelangen
  • Stichting AMC Foundation (Vrijgesteld)
  • Stichting Metakids
  • Stichting Vrienden van het Herseninstituut