March 2016
Volume 57, Issue 3
Open Access
Lecture  |   March 2016
Introducing Anneke I. den Hollander, the Recipient of the 2015 Cogan Award
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     DOI:10.1167/iovs.16-19380
Investigative Ophthalmology & Visual Science March 2016, Vol.57, 1376-1377. doi:10.1167/iovs.16-19380
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      Martine J. Jager; Introducing Anneke I. den Hollander, the Recipient of the 2015 Cogan Award. Invest. Ophthalmol. Vis. Sci. 2016;57(3):1376-1377. doi: 10.1167/iovs.16-19380.

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      © ARVO (1962-2015); The Authors (2016-present)

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Anneke I. den Hollander from the Department of Ophthalmology, Radboud University Medical Center in Nijmegen, The Netherlands, is the winner of the 2015 Cogan Award. 
As a long-time member of ARVO and frequent attendee of international meetings, I come across many excellent young eye researchers. It is uncommon to meet anyone, man or woman, with the effectiveness and success of Anneke den Hollander. At her young age, and as the mother of two, she has been able to develop a top-level genetics laboratory that has provided some of the most important new insights into the genetics of Leber congenital amaurosis and of age-related macular degeneration. 
den Hollander studied the right genes at the right time, thanks to developing a very good infrastructure and excellent scientific background knowledge. Her work has contributed greatly to our understanding of the molecular causes of a series of retinal diseases: She identified the majority of the genetic causes of Leber congenital amaurosis (LCA) as lead scientist in studies that identified the CEP290, CRB1, and LCA5 genes,13 which together underlie 35% of all LCA cases. In addition, her group identified numerous genes involved in retinitis pigmentosa as well as cone and cone–rod dystrophy. Just recently, her group identified mutations in the RAB28 gene as a novel cause of cone–rod dystrophy,4 highlighting a new disease mechanism. 
In 2008, she initiated a new research line at Radboud University Medical Center to study the causes of multifactorial eye diseases, such as age-related macular degeneration (AMD), central serous retinopathy, and glaucoma, and very soon reported loss-of-function mutations in the complement factor H gene in AMD (published in American Journal of Human Genetics).5 These mutations segregate together with the disease in multiplex AMD families, demonstrating that these alleles are highly penetrant. In 2013 her group identified a functional variant in the complement factor I gene that confers a high risk of AMD (odds ratio 22). Besides this strong genetic association, she provided functional evidence that this mutation reduces the expression and secretion of factor I, leading to a significantly lower capacity to degrade C3b in the fluid phase and on the cell surface. The paper on this subject, which describes the first direct evidence that a factor I deficiency confers a high risk of developing AMD, was published in Nature Genetics.6 
den Hollander's recent findings have great implications for both predictive testing and personalized medicine in AMD. The first prognostic AMD tests, which are based on a small number of common variants, are currently being marketed. However, these tests are not reliable in individuals carrying rare mutations that confer a high risk of developing AMD. It is therefore essential to understand the role of rare but highly penetrant variants in AMD before reliable genetic tests can be developed. den Hollander's work demonstrates that such genes are indeed present in the population and that these tests will need to address the rare, highly penetrant variants, particularly in the case of densely affected AMD families. 
The impact of den Hollander's work is demonstrated by the large number of manuscripts she has coauthored in highly ranked journals. Her CV currently lists over 170 papers, with six in Nature Genetics and many others in Journal of Clinical Investigation, American Journal of Human Genetics, and Progress in Retinal Eye Research. She received several national and international personal awards for her work, including two prestigious career development awards (Veni and Vidi Innovational Research awards) from The Netherlands Organisation for Scientific Research (NWO), the Dutch equivalent of the National Institutes of Health. This is an exceptional achievement since only a limited number of highly talented researchers in The Netherlands have been able to obtain these consecutive career development awards. Even fewer of these are women. 
In 2012, she received an ERC Starting Grant from the European Research Council, the most prestigious career development award in Europe. The most important evaluation criterion for the ERC is scientific excellence, demonstrating that her research is ranked among the top in Europe. 
In 2014, den Hollander was appointed full professor at the Department of Ophthalmology, Radboud University Medical Center in Nijmegen, The Netherlands, making her responsible for all molecular research in the department, leading the initiative to develop new research lines. 
den Hollander has been an active member of ARVO since 1996. From 2009 to 2012 she served as a member of the ARVO Annual Meeting Program Committee (BI section), and organized several symposia and special interest group meetings during the ARVO annual meetings. She is currently a member of the working group to develop membership education in advocacy. 
Anneke den Hollander is an exceptionally talented researcher and stimulating teacher, who has made important contributions to vision research, and it is very fitting that she has won the 2015 Cogan Award. She is a great example for the many young scientists in ARVO and demonstrates that women can reach the highest levels of research excellence too and be recognized for this by their own society, ARVO. 
References
den Hollander AI, Koenekoop RK, Yzer S, et al. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet. 2006; 79: 556–561.
den Hollander AI, ten Brink JB, de Kok YJM, et al. Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). Nat Genet. 1999; 23: 217–221.
den Hollander AI, Koenekoop RK, Mohamed MD, et al. Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet. 2007; 39: 889–895.
Roosing S, Rohrschneider K, Beryozkin A et al. Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. Am J Hum Genet. 2013; 93: 110–117.
Boon CJF, Klevering BJ, Hoyng CB, et al. Basal laminar drusen caused by compound heterozygous variants in the CFH gene. Am J Hum Genet. 2008; 82: 516–523.
van de Ven JPH, Nilsson SC, Tan PL, et al. A functional variant in the CFI gene confers a high risk of age-related macular degeneration. Nat Genet. 2013; 45: 813–817.
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