Medical Genetics and Genomics Axis

Leaders:
Eric Shoubridge
Jacquetta Trasler

Research Themes:
– Gene and Mutation Identification
– Mechanism of Genetic Disease
– Applied Genetics

Gene and mutation discovery continue to be major themes for both simple Mendelian traits and for complex genetic diseases. Mouse models of complex genetic traits and multifactorial diseases, imprinting, and host resistance to infection have been developed and will play an important role in the understanding of human genetic disease. Statistical genetics is a crucial underpinning of the analysis of complex genetic diseases. The introduction of new techniques to identify mutations of cytogenetic abnormalities, and the development of testing procedures for recently characterized disorders are continuing objectives in many laboratories. Large-scale genomics projects are being initiated at the Genome Centre. Ethical, legal and social issues are essential components of the axis program.