Organizers:
Ian Wood (University of Leeds, UK)
Nicola Gray (MRC Human Genetics Unit, UK)
Lesley Jones (Cardiff University, UK)
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Session 1: Neuronal gene expression and developmental disease
Chair:
Ian Wood (University of Leeds, UK)
12:00 - 14:00 Registration
Functional genomic dissection of speech and language disorders
Simon Fisher (Wellcome Trust Centre for Human Genetics, Oxford, UK)
Absolute levels of the transcription factor Pax6 are essential for controlling the balance between neural stem cell self-renewal and neurogenesis
Rick Livesey (University of Cambridge, UK)
15:30 - 16:00 Coffee/tea break
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Session 2: Gene expression and neurodegeneration
Chair:
Lesley Jones (Cardiff University, UK)
Transcriptional dysregulation of coding and non-coding genes in cellular models of Huntington's disease
Angela Bithell (Institute of Psychiatry, King's College London, UK)
Manipulating antioxidant gene expression: endogenous mechanisms and pharmacological approaches
Giles Hardingham (University of Edinburgh, UK)
17:30 - 18:30 Drinks reception and poster session
Genetics and Gene expression in neurodegenerative disease
John Hardy (University College London, UK)
Amyloid-beta secretion impairs the DNA repair system
Selected oral communication - Anne Forestier (CEA-Grenoble, France)
Common gene targets for free radicals and acetyltransferase modifications
Selected oral communication - Nin-Nin Chuang (Academia Sinica, Nankang, Taiwan)
Exonic variation in the MOG gene is associated with differential transcript splicing
Selected oral communication - Cathy Jensen (Florey Neurosciences Institute, Melbourne, Australia)
10:45 - 11:15 Coffee/tea break
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Session 3: RNA splicing and neuronal disease
Chair:
Nicola Gray (MRC Human Genetics Unit, UK)
Zoo-CLIP defines the positional constraints of splicing regulation by TDP-43
Jernej Ule (University of Cambridge, UK)
RNA splicing and neuromuscular disease
Tom Cooper (Baylor College of Medicine, Texas, USA)
Why mRNA decay matters: studies of nonsense-mediated and Staufen1-mediated decay
Lynne Maquat (University of Rochester School of Medicine and Dentistry, USA)
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Session 4: Translation and neuronal disease
Chair:
Nicola Gray (MRC Human Genetics Unit, UK)
eEF1A2 and neuronal degeneration
Cathy Abbott (University of Edinburgh, UK)
15:15 - 15:45 Coffee/tea break
Translation initiation factors and neuronal function: mutations in eIF2B cause ‘vanishing white matter’ (VWM)
Chris Proud (University of Southampton, UK)
White Matter lost in translation: understanding the role of eIF2B and exploring curative strategies
Graham Pavitt (University of Manchester, UK)
17:15 - 18:30 Meet the Speakers and poster viewing
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