Genomics in clinical practice: A story about Charcot-Marie-Tooth neuropathy
Starts: | 12:30 22 Oct 2012 |
Ends: | 13:30 22 Oct 2012 |
What is it: | Seminar |
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Medical and Human Sciences, Institute of Human Development
Speaker : Professor Jim Lupski
Through studies of Charcot-Marie-Tooth (CMT) peripheral neuropathy and Smith-Magenis syndrome, Professor Lupski's laboratory has elineated the concept of 'genomic disorders' and established the critical role of copy number variation (CNV) and gene dosage in conveying human disease phenotypes.
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Postgrad Centre, Manchester Royal Infirmary