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SUMMARY:Rare Diseases Day - Professor Jenny Taylor (Wellcome Trust Centre 
 for Human Genetics)\, Professor Andrew Wilkie (Weatherall Institute of Mol
 ecular Medicine\, Oxford)\, Professor David Beeson\, Smita Patel (Universi
 ty of Oxford)\, Dr Alistair Pagnamenta (University of Oxford)\, Dr Mark St
 evenson\, Alex Bullock (University of Oxford\, Structural Genomics Consort
 ium)\, Andrea Nemeth (University of Oxford)
DTSTART;VALUE=DATE-TIME:20181206T090000Z
DTEND;VALUE=DATE-TIME:20181206T143000Z
UID:https://talks.ox.ac.uk/talks/id/9b1f38b3-59fc-4603-be16-d4fe3438a960/
DESCRIPTION:Rare Diseases Day\n Thursday 6th December\, 0900 – 1430\, Ro
 om A\n\n\n0900 – 0930	Prof Jenny Taylor\, Co-Theme Lead\, Oxford BRC Gen
 omic Medicine Theme. Overview of Clinical Sequencing for Rare Diseases in 
 Oxford\n\n0930 – 1000		Prof Andrew Wilkie\, Nuffield Professor of Pathol
 ogy\, Co-Theme Lead\, Oxford BRC Genomic Medicine Theme\, Honorary Consult
 ant in Clinical Genetics. Expanding the mutation spectrum and mechanisms i
 n craniosynostosis\n\n1000 – 1030	Prof David Beeson\, Professor in Molec
 ular Neuroscience. \nChallenges arising from the expanding spectrum of dis
 orders caused by mutations at the neuromuscular synapse\n\n1030 – 1100	
 – COFFEE BREAK –\n\n1100 – 1130	Dr Smita Patel\, Consultant Immunolo
 gist. \nThe Genomics of Primary Immune Deficiencies\n\n1130 – 1200	Prof 
 Andrea Nemeth\, NDCN and Consultant in Neurogenetics. \nFrom genome to fun
 ction in a rare cerebellar ataxia and intellectual disability syndrome\n\n
 1200 – 1230	Dr Mark Stevenson\, Post-doc\, OCDEM. \nUtility of Whole Gen
 ome Sequencing to diagnose complex disorders: lessons from renal and endoc
 rine disorders\n\n1230 – 1315	– LUNCH –\n\n1315 – 1345	Dr Alistair
  Pagnamenta\, Post-doc\, WHG. \nNeurological problems associated with defe
 ctive glycosylphosphatidylinositol (GPI)-anchor biogenesis\n\n1345 – 141
 5	Prof Alex Bullock\, Structural Genomics Consortium. \nStrategies to deve
 lop affordable medicines for rare diseases\n\n1415 – 1430	Prof Jenny Tay
 lor to close\nSpeakers:\nProfessor Jenny Taylor (Wellcome Trust Centre for
  Human Genetics)\, Professor Andrew Wilkie (Weatherall Institute of Molecu
 lar Medicine\, Oxford)\, Professor David Beeson\, Smita Patel (University 
 of Oxford)\, Dr Alistair Pagnamenta (University of Oxford)\, Dr Mark Steve
 nson\, Alex Bullock (University of Oxford\, Structural Genomics Consortium
 )\, Andrea Nemeth (University of Oxford)
LOCATION:Wellcome Trust Centre for Human Genetics (Room A)\, Headington OX
 3 7BN
TZID:Europe/London
URL:https://talks.ox.ac.uk/talks/id/9b1f38b3-59fc-4603-be16-d4fe3438a960/
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DESCRIPTION:Talk:Rare Diseases Day - Professor Jenny Taylor (Wellcome Trus
 t Centre for Human Genetics)\, Professor Andrew Wilkie (Weatherall Institu
 te of Molecular Medicine\, Oxford)\, Professor David Beeson\, Smita Patel 
 (University of Oxford)\, Dr Alistair Pagnamenta (University of Oxford)\, D
 r Mark Stevenson\, Alex Bullock (University of Oxford\, Structural Genomic
 s Consortium)\, Andrea Nemeth (University of Oxford)
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