Advanced metabolic course: Controversies in management - See more at: rrd-foundation.org/en/course/advanced-metabolic-course-controversies-management/83?qt-coursetab=0#qt-coursetab Programme 11 March 2015 12:00 Registration and lunch 13:15 Welcome and introduction Dr Alex Broomfield, Dr Elisabeth Jameson (St Marys Hospital, Manchester) 13:30 Pre-course quiz GENETICS 13:45 Next generation sequencing (NGS) overview Prof William Newman (St Marys Hospital, Manchester) 14:15 Interaction between metabolomics and NGS Dr Kevin Mills (University College, London) 14:45 Workshops with experts: understanding NGS Prof Newman, Dr Jill Urquhart, Dr Siddharth Banka (St Marys Hospital, Manchester) 15:15 Coffee HOMOCYSTINURIAS AND METHYLATION DEFECTS 15:45 Homocystinurias Prof John Walter (St Marys Hospital, Manchester) 16:15 Methylation defects Prof Henk Blom (University Medical Center, Freiburg) 16:45 Newborn screening of homocystinurias and methylation disorders Dr Viktor Kozich (Charles University in Prague-First Faculty of Medicine and General University Hospital, Prague) 17:15 Case discussion with expert panel from session 18:00 Closing remarks 19:30 Welcome dinner 12 March 2015 LIVER 08:30 Overview of potential indications for liver transplant in inborn errors of metabolism and US experience Prof Jerry Vockley (Childrens Hospital of Pittsburgh, USA) 09:15 Surgical options Dr Patrick McKiernan (Birmingham Childrens Hospital) 10:30 Coffee RENAL 11:00 When to refer to transplant in MMA Dr Alex Broomfield (St Marys Hospital, Manchester) 11:30 Debate: haemodialysis vs peritoneal dialysis in MMA Dr Eric Finlay (Leeds General Infirmary) Dr Mohan Shenoy (Royal Manchester Childrens Hospital) 12:10 Case discussion with expert panels from session 13:00 Lunch HSCT 14:30 Overview of HSCT for X-ALD, Wolmans, juvenile MLD, MPS VI Prof Robert Wynn (Royal Manchester Childrens Hospital) 15:30 Coffee 16:00 Case discussion with expert panel Prof Robert Wynn (Royal Manchester Childrens Hospital) Dr Ashok Vellodi (Great Ormond Street Hospital, London) Dr Colin Steward (Bristol Royal Hospital for Children) 17:00 Closing remarks 19:00 Dinner 13 March 2015 PANCREATITITS IN OA 08:30 Overview and departments experience Dr Elisabeth Jameson (St Marys Hospital, Manchester) 09:00 Diagnosis and medical management of pancreatitis TBC 09:30 Surgical management of pseudocysts and other complications of pancreatitis Mr Naveed Alizai, Consultant hepatobiliary surgeon (Leeds General Infirmary) 10:00 Case discussion and expert panel with experts from session 11:00 Coffee NEUROTRANSMITTERS 11:30 Management of neurotransmitter disorders Dr Manju Kurian (Great Ormond Street Hospital, London) 12:00 Cerebral folate disorders Dr Siddharth Banka (St Marys Hospital, Manchester) 12:30 Lunch DIETETICS 13:30 Dietary management of GSD: what is best practice? Joanna Gribben (Evelina Childrens Hospital, London) 14:00 GA1: when to use diet and when not to? Miss Marjorie Dixon (Great Ormond Street Hospital, London) 14:30 Case presentations with expert panel from session 15:30 Quiz 15:50 Closing remarks 16:00 Coffee and departure - See more at: rrd-foundation.org/en/course/advanced-metabolic-course-controversies-management/83?qt-coursetab=0#qt-coursetab
Posted on: Sat, 03 Jan 2015 21:38:11 +0000
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