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Gene Discovery In Mendelian And Complex Diseases, Sali Farhan
Gene Discovery In Mendelian And Complex Diseases, Sali Farhan
Electronic Thesis and Dissertation Repository
Through the Finding of Rare Disease Genes in Canada (FORGE Canada) initiative, individuals affected with rare Mendelian diseases were clinically ascertained with a goal of identifying the genetic origin of their disease. Herein, I describe the methods for identifying the genetic basis of four Mendelian diseases. The application of next generation sequencing led to the discovery of non-synonymous variation in the DNA of individuals affected by rare diseases. The effects of the candidate variants were assessed using a series of functional experiments to complement the human genetics data. The variants observed in patients’ cells are extremely rare, were consistently predicted …
Alagille Syndrome: Clinical Perspectives, Maha Saleh, Binita M. Kamath, David Chitayat
Alagille Syndrome: Clinical Perspectives, Maha Saleh, Binita M. Kamath, David Chitayat
Paediatrics Publications
Alagille syndrome is an autosomal dominant, complex multisystem disorder characterized by the presence of three out of five major clinical criteria: cholestasis with bile duct paucity on liver biopsy, congenital cardiac defects (with particular involvement of the pulmonary arteries), posterior embryotoxon in the eye, characteristic facial features, and butterfly vertebrae. Renal and vascular abnormalities can also occur. Inter- and intrafamilial variabilities in the clinical manifestations are common. We reviewed the clinical features and management as well as the molecular basis of Alagille syndrome.