Combined clinical, neuroimaging, genomics, and molecular genetics research efforts between neuropediatrics clinic at HMC, international clinical collaborators, and neurogentics lab at WCMCQ has successfully enabled a prominent achievement in providing tools and defined strategy for diagnostics, and primary prevention, carrier detection and prenatal intervention, of a wide variety of neurogenetics diseases encountered in Gulf and Arab patients. Whole genome sequencing, Sanger sequencing, in-vitro studies were our main experimental tools to prove the gene defect and to derive the well characterized diagnostic tool. Examples of diseases that are identified in our collection of families and now possible to screen and diagnose on gene basis include AR-Leukodystrophy with subcortical cysts [VDK], AR-LGMD-sarcoglycans, AR-HSP-related genes, AR-hyperexplexia and other interesting neurogentics disorders. The presentation will show a summary of clinical, neuroimaging, novel genes/ mutations and the preventive measures that have been actually undertaken in those diseases.


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