Retinitis Pigmentosa Research Papers

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Retinitis Pigmentosa is an inherited retinal disease with progressive degeneration of the photoreceptors, leading sometimes to blindness, it is well characterized by its heterogeneous genetics. The first signs can be observed in adolescence or early adulthood including night blindness and progressive loss of peripheral vision in daylight, eventually concluding in severe visual impairment, may be inherited as X-linked, autosomal dominant and autosomal recessive. Many genes had been involved with this disease. In this research work we focus on autosomal dominant retinitis pigmentosa and the splicing factor PRPF31.
Degeneration of photorreceptors appear to be related with mutations in pre-mRNA splicing gene and splicing process.
In this research
…show more content…
In this context, the development of recombinant DNA technology in the 1970s marked the beginning of a new era in biology (Jackson et al. 1972). This beginning promoted a new born in genetic engineering boosting the modern biotechnology and other science fields. Thanks to this discover, scientists could manipulate genetic material and make individual studies at the level of structure, organization and function but also about regulation and gene expression. So today, with all this new technology ready in our hands we are able to mutate genes in a targeted way and obtain the desired change in the sequence involving, developing the phenotype change required by the …show more content…
Being CRISPR-Cas9 the breakthrough of editing genome because the high rate of efficacy and non-complicity of carrying out the system.
1.1 RESEARCH OBJECTIVE AND IMPORTANCE
Generate a PRPF31 gene knock out in zebrafish using CRISPR/CAS 9 technology for a better understanding of Retinitis Pigmentosa’s physiopathology and in future give an approach to new treatments for patients who suffer the consequences of this inherited disease.
Zebrafish is gaining popularity in research field around 10 years ago, their multiple benefits comparing with mouse makes this model animal a good alternative to modeling diseases. The period between generations is shorter, it can produce a large quantity of embryos. It has an external development, the adult size is shorter than mouse, maintenance cost is lower and requires less space for having more animals. Zebrafish and humans share around 70% of genes. (Kerstin Howe, et al.

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