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In this presentation, Professor North will demonstrate the use of next generation sequencing in diagnosis and gene discovery for congenital myopathies. Examples used will demonstrate how the identification of specific diagnostic clinical clues, muscle biopsy findings, and an understanding of the underlying disease mechanism play an increasingly important role in prioritizing gene testing, validating gene discovery and in reaching a final genetic diagnosis.
Speaker information: Professor Kathryn North, University of Melbourne. Host: MRC Centre Seminar Series 2014.