Researchers from the University of Geneva (UNIGE), Switzerland, working with scientists from Pakistan and the USA, have investigated a recessive genetic disorder that prevents the eyes from developing and results in childhood blindness, Technology Networks reports.
After analyzing the genomes of each member of a family with affected children, the geneticists pinpointed mutations in a new gene, MARK3, as the cause.
The researchers 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.
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