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Our genome is made up of 20,000 genes, all of which may cause disease. At present, 4,141 genes have been identified as being responsible for genetic abnormalities, leaving around 16,000 genes with unknown implication in disease. Researchers from the University of Geneva (UNIGE), Switzerland, — working in collaboration with scientists from Pakistan and the USA — have investigated a recessive genetic disorder that destroys the eyes from developing and results in childhood blindness. After analyzing the genomes of each member of a consanguineous family with affected children, the geneticists pinpointed pathogenic mutations in a new gene, MARK3, as being the cause. They subsequently confirmed their findings — published in the journal Human Molecular Genetics — by modifying the homologous gene in drosophila flies, which resulted in abnormal eye development and blindness. The identification of the MARK3 related disease will help to understand the mechanism of the disease, provide diagnostic services, and initiate efforts for a personalized treatment. (1)

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