| 27 February 2017

News from Germany & Switzerland: RP Research Prize of PRO RETINA Deutschland e. V. and Retina Suisse

http://www.retina-international.org/

from left to right:    Retinitis Pigmentosa Prize winner Dr. rer. nat. Elvir Becirovic, Franz Badura, MD Research Award winner Dr. Felix Grassmann and DOG President Prof. Dr. Horst Helbig

The 2016 the RP Research Prize of PRO RETINA Deutschland e. V. and Retina Suisse was awarded to Dr. rer. nat. Elvir Becirovic of the Pharmacy Department of the Ludwig Maximilian University in Munich during the 114th Congress of the German Ophthalmological Society (DOG) in Berlin.

The prize was awarded for three connected papers on the topic " hysiology and Pathophysiology of Peripherin-2 (PRPH-2)".

The three papers deal with the question why point mutations in the so-called PRPH-2 gene show differing "penetrating Power" (penetration) in rods and cones. Mutations in this gene are one of the most frequent causes of certain forms of retinitis pigmentosa (autosomal dominant) which however can occur with very different characteristics so that no clear relationship between genotype and appearance (genotype-phenotype correlation) is possible.

Dr. Becirovic's papers are based on the hypothesis that there are different interactive partners in the outer segments of rods and cones which vary in effect depending on the localization of certain peripherin-2 point mutations. Dr. Becirovic examined this issue systemically in photoreceptors of mouse models using specially created PRPH-2 minigenes. Thus he could show that peripherin-2 interacts with the various opsins (protein part of the vision pigment) of the rods and cones. Further investigation of a certain mouse mutant showed that this point mutation leads to a specific fault and a certain disease aspect.

The results of this study provide fresh insights into the physiology and pathophysiology of peripherin-2 in rods and cones of the retina and also draw attention to new regulation factors. The results also suggest that increased multiallelic copy numbers (overexpression of peripherin-2 could bring about toxic effects which would render the treatment of the resulting PRPH-2 rod dystrophy with gene substitute therapy very difficult.

Dr. Becirovic's original paper is therefore of very high scientific quality and of great importance for future strategies in treating genetic retina dystrophy.

Dr. Becirovic studied biology in Cologne and gained his doctorate at the Department of Pharmacy (Center for Drug Research) at the Ludwig Maxmilian University in Munich in 2010. Since then he has been working at this Center as Junior Group Head.

Through his achievements he clearly ranks among the most promising scientific newcomers in the field of experimental research, which focuses on under-standing the illness mechanisms for degenerative retina diseases and their therapy.

PRO RETINA Deutschland e.V. and Retina Suisse wish Dr. Elvir Becirovic every success for his future work at the Ludwig Maximilian University in Munich and congratulate him heartily on this award which is endowed with a cash amount of 2.000 euros and the financing of a congress stay abroad (to the value of an additional 1.500 euros).

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