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Whole-Exome Sequencing Reveals the Genetic Heterogeneity of Osteopetrosis in an Consanguineous Iraqi Family
Osteopetrosis is a rare genetic disease characterised by abnormal bone density and proneness to fracture. Although a few genes have been implicated, much remains unknown. Sanger sequencing of some known implicated genes had earlier failed to convincingly identify a mutation in two Iraqi siblings suspected to be suffering from the disease. Illumina whole-exome sequencing (WES) was performed on the genomic DNAs extracted from five members (parents and three siblings) of an Iraqi-Kurdish consanguineous family. In this talk, we will discuss the analysis of the WES data using a comprehensive system biology approach and the genetic heterogeneity observed in this family as further evidence to the multigenic nature of osteopetrosis.REGISTER NOW