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Generation of Disease Models of Intellectual Disability (and Charcot-Marie-Tooth Disease)
Drosophila melanogaster can be employed as a convenient model to perform functional investigations of human disease genes as the fly genome contains more than 75% of the disease-causing genes in human. We are studying novel mutations in several human genes with special attention to their molecular role in neuronal development and network connections, and consequent behavioral outputs. We aim to illustrate how these genetic factors can deregulate brain function and cause intellectual disability. In this connection, RNAi gene silencing, and appropriate gene editing tools will be applied to introduce desired genetic alterations to Drosophila orthologs of selected genes and then consequent behavioral, structural, and functional changes in the brain will be studied by means of suitable techniques. Demonstrating the mechanism of action underlying such genetic mutations can significantly shape the basis of current therapeutic strategies.
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