Special Issue "Genetics of Eye Disease"
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".
Deadline for manuscript submissions: 31 July 2021.
Interests: management of glaucoma (wound healing, complications, new methods); neuroprotection in neuroscience (glaucoma, epilepsy); glaucoma genetics; clinico-genetical correlations; management of complicated cataracts
Genetics of eye diseases has been a field of interest for many researchers in the last few decades. Technological advancement of molecular techniques allowed the spread of new approaches in search of genetic factors underlying pathological processes in ocular disorders. For years, traditional linkage analysis has been utilized to link different diseases' phenotypes with particular loci and has been successful in finding variations responsible for known pathological processes, for instance in retinoblastoma. One limitation of this approach is its reliance on prior knowledge of pathological pathways. Most eye diseases are clinically heterogenous, with many pathways still unknown. Additionally, diseases’ phenotypical heterogeneity is usually reflected by their polygenic inheritance, therefore linkage analysis, though useful in finding genes of big impact, fails to recognize whole spectrum of casual variations involved in development of complex diseases, such as glaucoma, age-related maculopathy or keratoconjunctivitis sicca. In age-related maculopathy, which is considered the most well genetically defined complex disorder, two major loci explain only half of its heritability and MYOC, one of major glaucoma-causing genes is present only in 2–4% of primary open-angle glaucoma patients. More recently, genome-wide association studies have emerged. These huge studies are more powerful in finding variations in genes of subtle effects that summarily contribute to more complex disorders, thus they are hoped, among others, to help defining heritability of polygenic eye diseases. Importance of knowledge regarding genetics of eye diseases is hard to overestimate, especially up against novel achievements of molecular manipulation techniques. Advances in sequence analysis and gene delivery methods, by both viral and nonviral vectors have recently allowed the delivery of genetic payloads in preclinical models of retinal disorders, expanding the disease-modifying power of gene therapies. Further studies regarding targets for such therapies are however still needed. Despite the number of studies contributing to different eye diseases’ genetics there is still little understood and much to be revealed. This special issue is focused on molecular side of the topic, nevertheless clinical implications are also welcome, if connected with biomolecular experiments.
Prof. Tomasz Żarnowski
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