- Janssen SF, Gorgels TGMF, Ramdas WD, Klaver CCW, van Duijn CM, Jansonius NM, Bergen AAB, The vast complexity of primary open angle glaucoma: disease genes, risks, molecular mechanisms and pathobiology. PROG RETIN EYE RES 2013;37:31-67 [PubMed]
- Gorgels TGMF, Waarsing JH, Herfs M, Versteeg D, Schoensiegel F, Sato T, Schlingemann RO, Ivandic B, Vermeer C, Schurgers LJ, Bergen AAB, Vitamin K supplementation increases vitamin K tissue levels but fails to counteract ectopic calcification in a mouse model for pseudoxanthoma elasticum. J MOL MED-JMM 2011;89 (11):1125-1135 [PubMed]
- Bergen AA, Kaing S, ten Brink JB, Gorgels TG, Janssen SF, Gene expression and functional annotation of human choroid plexus epithelium failure in Alzheimer's disease. BMC GENOMICS 2015;16 (1):956 [PubMed]
- Bergen AA, Arya S, Koster C, Pilgrim MG, Wiatrek-Moumoulidis D, van der Spek P, Hauck SM, Boon CJF, Emri E, Stewart AJ, Lengyel I, On the origin of proteins in human drusen: The meet, greet and stick hypothesis. PROG RETIN EYE RES 2018;ahead of print [PubMed]
- Tedja MS, Wojciechowski R, Hysi PG, Eriksson N, Furlotte NA, Verhoeven VJM, Iglesias AI, Meester-Smoor MA, Tompson SW, Fan Q, Khawaja AP, Cheng CY, Höhn R, Yamashiro K, Wenocur A, Grazal C, Haller T, Metspalu A, Wedenoja J, Jonas JB, Wang YX, Xie J, Mitchell P, Foster PJ, Klein BEK, Klein R, Paterson AD, Hosseini SM, Shah RL, Williams C, teo YY, Tham YC, Gupta P, Zhao W, Shi Y, Saw WY, Tai ES, Sim XL, Huffman JE, Polašek O, Hayward C, Bencic G, Rudan I, Wilson JF, Joshi PK, Tsujikawa A, Matsuda F, Whisenhunt KN, Zeller T, van der Spek PJ, Haak R, Meijers-Heijboer H, van Leeuwen EM, Iyengar SK, Lass JH, Hofman A, Rivadeneira F, Uitterlinden AG, Vingerling JR, Lehtimäki T, Raitakari OT, Biino G, Concas MP, Schwantes-An TH, Igo RP Jr, Cuellar-Partida G, Martin NG, Craig JE, Gharahkhani P, Williams KM, Nag A, Rahi JS, Cumberland PM, Delcourt C, Bellenguez C, Ried JS, Bergen AA, Meitinger T, Gieger C, Wong TY, Hewitt AW, Mackey DA, Simpson CL, Pfeiffer N, Pärssinen O, Baird PN, Vitart V, Amin N, van Duijn CM, Bailey-Wilson JE, Young TL, Saw SM, Stambolian D, Macgregor S, Guggenheim JA, Tung JY, Hammond CJ, Klaver CCW [Contributors: Aung T, Veluchamy AB, Burdon KP, Campbell H, Chen LJ, Chen P, Chen W, Chew E, Deangelis MM, Ding X, Döring A, Evans DM, Feng S, Fleck B, Fogarty RD, Fondran JR, Fossarello M, Guo X, Haarman AEG, He M, Howe LD, Janmahasatian S, Jhanji V, Kähönen M, Kaprio J, Kemp JP, Khaw KT, Khor CC, Krapohl E, Korobelnik JF, Lee K, Li SM, Lu Y, Luben RN, Mäkelä KM, McMahon G, Meguro A, Mihailov E, Miyake M, Mizuki N, Morrison M, Nangia V, Oexle K, Panda-Jonas S, Pang CP, Pirastu M, Plomin R, Rantanen T, Schache M, Seppälä I, Smith GD, Pourcain BS, Tam PO, Tideman JWL, Timpson NJ, Vaccargiu S, Vatavuk Z, Wang JJ, Wang N, Wareham NJ, Wright AF, Xu L, Yap MKH, Yazar S, Yip SP, Yoshimura N, Young AL, Zhao JH, Zhou X, Agee M, Alipanahi B, Auton A, Bell RK, Bryc K, Elson SL, Fontanillas P, Hinds DA, McCreight JC, Huber KE, Kleinman A, Litterman NK, McIntyre MH, Mountain JL, Noblin ES, Northover CAM, Pitts SJ, Sathirapongsasuti JF, Sazonova OV, Shelton JF, Shringarpure S, Tian C, Vacic V, Wilson CH, Aslam TM, Barman SA, Barrett JH, Bishop PN, Blows P, Bunce C, Carare RO, Chakravarthy U, Chan M, Chua S, Crabb D, Day A, Desai P, Dhillon B, Dick AD, Egan CA, Ennis S, Fruttiger M, Gallacher J, Garway-Heath DF, Gibson J, Gore DM, Hardcastle A, Harding SP, Hogg RE, Keane PA, Khaw PT, Lascaratos G, Lotery A, Luthert PJ, MacGillivray TJ, Mackie SL, Martin KR, McGaughey M, McGuinness B, McKay GJ, McKibbin M, Mitry D, Moore T, Morgan JE, Muthy ZA, O'Sullivan E, Owen C, Patel PJ, Paterson EN, Peto T, Petzold A, Rudnicka AR, Self JE, Sivaprasad S, Steel DHW, Stratton IM, Strouthidis N, Sudlow CLM, Thaung C, Thomas D, Trucco E, Tufail A, Vernon SA, Viswanathan AC, Woodside JV, Yates M, Yip JLY, Zheng Y]] , Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error. NAT GENET 2018;50 (6):834-+ [PubMed]
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.
Prof. dr. A.A.B. Bergen (previously: NIN)
Dr. ir. A.L.M.A. ten Asbroek
Dr. R.J. Florijn
Dr. G. Hajmousa
Dr. Z. Sahin
R. Bakker MSc
T.P.F. de Veer
P.E. Wagstaff MSc
Drs. V.L. Lo Faro (UMCG)
Drs. S.T. Shumet (DOCTOR)
J. ten Brink
- Membership of editorial board / Editorship, MOLECULAR VISION
- Membership of medical or scientific committee, Retina Nederlland, Advisory committee
- Membership of medical or scientific committee, Retina International, Advisory board
- AMC (Vrijgesteld)
- Europese Unie
- Hersenstichting Nederland
- Nederlands Herseninstituut
- Rotterdamse Stichting Blindenbelangen
- Stichting Metakids