Bringing the future into focus


 

15 May 2014. Anneke den Hollander receives Cogan Award.

EUGENDA researcher Anneke den Hollander has been selected to receive the Cogan Award 2015 from the Association for Research in Vision and Ophthalmology (ARVO), the largest vision research organization in the world with more than 12,000 international members. She will receive the award and present the Cogan Award Lecture at the next ARVO Annual Meeting, May 2015 in Denver, Colorado. The Cogan Award was established in 1988 to commemorate Dr. David G. Cogan, for his outstanding leadership and commitment to advancing the understanding of the causes, mechanisms, and treatment of human eye disease. This award is intended to recognize a young researcher who is 45 years of age or younger at the time of nomination, and who has made important and worthwhile contributions to research in ophthalmology or visual science that are directly related to disorders of the human eye or visual system, and who show substantial promise for future contributions.

 

30 Jan 2014. People with Allergies Have Reduced Risk for Age-Related Macular Degeneration.

EUGENDA researchers found that people who reported having allergies had a significantly reduced risk of developing age-related macular degeneration (AMD), the most common cause of vision loss in the elderly. Results of the study, which involved 3,585 Caucasian individuals, were reported in the journal Investigative Ophthalmology & Visual Science. After adjusting for other risk factors - age, gender, smoking and corticosteroid use - overall AMD risk for people with allergies was reduced by 25 percent. Late AMD risk for those allergic was reduced by 51 percent. The protective effect of allergies appeared to be independent of the type of allergen; people with allergies to pollen, drugs, food, dust mites and other provoking agents all had reduced AMD risk. Over the last decade, the retinal research community has known that increased activation of the complement system - the body's immune response to infection - is linked to the development of AMD. However, the study did not find that allergies affected the level of complement activity. The scientists suspect that other allergy-related, immune-system factors may be linked to reduced AMD risk, but acknowledge that more research is needed to establish the association.

 

19 May 2013. Defect in Immune system causes visual impairment in the elderly

In a recently published article in Nature Genetics, EUGENDA researchers describe a hereditary defect in the immune system that causes visual impairment in the elderly. Carriers of the defect have a 22 times higher risk of age-related macular degeneration, the leading cause of visual impairment in the elderly. Due to the defect, the immune system is insufficiently inhibited, causing damage to the retina. The study reports a rare missense mutation in complement factor I (CFI) encoding a p.Gly119Arg substitution that confers a high risk of AMD. CFI plays an important role in the complement system, a part of our innate immunity. The role of the complement system is to eliminate pathogens, clear foreign substances and attract immune cells to the site of inflammation. However, the complement system can also injure our body’s own cells. CFI can protect our own cells from complement attack by inhibiting the complement system. Individuals with a defect in CFI can insufficiently inhibit the complement system, causing damage to the cells in the macula and eventually leading to macular degeneration. The researchers demonstrate that the complement system is indeed overactive in blood samples of patients carrying the CFI defect.The findings have implications for both predictive testing and for the development of new AMD treatments. The first predictive AMD tests, which are based on a small number of common variants, are currently being offered directly to consumers on the internet. However, these tests are not reliable for individuals carrying rare variants that confer a high risk of developing AMD. It is therefore essential to understand the role of these rare variants in AMD before reliable genetic tests can be developed. These tests should not only be based on a small number of common variants but will also need to address rare, highly penetrant variants, particularly in the case of densely affected families.New treatments are currently being developed to selectively inhibit complement activation in AMD. However, in recent phase 2 clinical trials, eculizumab, an inhibitor of complement component C5, seemed not to effectively restrict geographic atrophy or drusen area in patients with AMD. Complement inhibitors are likely to be more effective in individuals carrying rare variants that severely affect complement activation. Future research is warranted to unravel pathogenic mechanisms in various subgroups of AMD and to develop personalized treatments tailored to each patient's individual genetic makeup.