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1 PROGRAMME 18 th 19 th April 2016 Freiburg, Germany Contents Section Foreword from Dr Valayannopoulos, Chair, ETAC Learning Objectives Organising Committee Faculty Members Scientific Programme.. 4 Section Venue Registration Acknowledgement of Funding V: of 6

2 Section Chair s Foreword Dear Colleagues, Ladies and Gentlemen, On behalf of SSIEM s Educational and Training Advisory Committee (ETAC), I am very pleased to welcome you all to the 9 th annual SSIEM Academy course in Freiburg, Germany. This collegial training course is primarily designed for trainees in Metabolic Medicine and is focused on clinical, laboratory and therapeutic approaches to inborn errors of metabolism, with a special emphasis on those disorders amenable to treatment. This year we are starting a new 4-year cycle aiming to cover a major part of the Metabolic syllabus. This course is dedicated to amino acids, urea cycle metabolism and inherited metabolic disease affecting the liver. Our program includes general and group focused (clinicians or lab scientists) lectures and workshops, a case discussion session and a quiz. As every year we have included an organ oriented topic Inherited Metabolic Disease affecting the Liver that will cover many of the diseases that we will be studying this year but also in the following academies, thus it is a good introduction to the organ specific diagnostic algorithms. Interactivity, group work, collaboration between clinicians and laboratory scientists and exchange of practical experiences are the key features of this course. We are confident that as many of you predecessors you will find the course a rich educational experience and that you will be able to apply all new knowledge to your current and future practice. Dr Vassili Valayannopoulos SSIEM s ETAC Chair 1.2. Scope & Learning Objectives The aim of the Academy training course is to provide training in areas of inherited metabolic disease for both paediatricians and laboratory scientists. There are joint lectures and workshops for the paediatricians and laboratory scientists and also a joint session with case presentations and a quiz. There are also clinical lectures for the paediatricians only and laboratory science workshops for the laboratory scientists. The 2016 Academy course covers the following disorders: Amino Acids, Hyperammonemia, Urea cycle defects and Metabolic liver disease. The learning objectives of the course, as related to these disorders, are as follows: 1. to understand their clinical presentation and natural history 2. to know the relevant laboratory investigations required in order to arrive at an accurate diagnosis 3. to know the management options that may be available for individual conditions and how such treatment may affect the course of the disease 4. to understand the genetic aspects of the disorders and the availability of molecular studies for diagnosis, carrier detection and prenatal studies. 5. to be aware of current research and new developments. V: of 6

3 1.3. Organising Committee The annual Academy training course is organised by the Education and Training Advisory Committee (ETAC) of the Society for the Study of Inborn Errors of Metabolism (SSIEM, ETAC members Chair: Dr V Valayannopoulos Secretary: Dr A A M Morris Senior Advisors: Prof J H Walter & Dr M J Henderson Clinical: Dr Andrew Morris, Dr Vassili Valayannopoulos, Prof Ute Spiekerkötter, Prof Shamima Rahman Laboratory: Prof Brian Fowler, Prof Simon Heales, Dr Christine Vianey-Saban, Dr Jorgen Bierau Administration Administrator: Dr S Gardner Administration Assistants: Mrs Rooman Ali & Miss Alice Brockway 1.4. Faculty Members Name Role Affiliation Dr Jorgen Bierau Speaker Maastricht University Medical Centre, Maastricht, Netherlands Dr Rachel Carling Observer Guy s Hospital, London, United Kingdom Prof Brian Fowler Speaker Universitäts-Kinderspital beider Basel (UKBB), Basel, Switzerland Dr Johannes Häberle Speaker University Children s Hospital, Zurich, Switzerland Prof Simon Heales Speaker Great Ormond Street Hospital, London, United Kingdom Dr Mick Henderson Speaker St James University Hospital, Leeds, United Kingdom Dr Mark Korson Speaker Genetic Metabolic Center for Education, Salem, USA Dr Andrew Morris Speaker Royal Manchester Children s Hospital, Manchester, United Kingdom Prof Shamima Rahman Speaker UCL Institute of Child Health, London, United Kingdom Prof Ute Spiekerkötter Speaker University Children s Hospital, Freiburg, Germany Dr Vassili Valayannopoulos Speaker Centre de Référence des Maladies Héréditaires du Métabolisme (MaMEA) Hôpital Universitaire Necker-Enfants Malades, Paris, France Dr Christine Vianey-Saban Speaker CHU de Lyon, Lyon, France Prof John Walter Observer Royal Manchester Children s Hospital, Manchester, United Kingdom Prof Henk Blom Speaker University Medical Centre Freiburg, Freiburg, Germany V: of 6

4 1.5. Programme Day 1: Monday 18 th April 08:00 08:15 Registration 08:15 08:20 Welcome/ Introduction & Laboratory Scientists 08:20 09:20 Joint Lecture 1 & Laboratory Scientists Topic: Causes & presentations of hyperammonaemia Speakers: Dr Andrew Morris & Dr Mick Henderson 09: Joint Workshop 1 (4 concurrent workshops) Topic: Investigations of hyperammonaemia Lead: Dr Andrew Morris Attendees: Joint Group A Lead: Dr Shamima Rahman Attendees: Joint Group B & Laboratory Scientists 11:00 11:30 Coffee break Lead: Prof Dr Ute Spiekerkötter Attendees: Joint Group C Room: Historische Stube 11:30 13:00 Joint Workshop 2 (4 concurrent workshops) & Laboratory Scientists Topic: Interpretation of amino acid patterns Lead: Dr Jörgen Bierau Attendees: Joint Group A Lead: Prof Brian Fowler Attendees: Joint Group B 13:00 14:00 Lunch 14:00 15:30 Clinical Lecture 1 Topic: Management of UCDs Speaker: Dr Johannes Häberle Lead: Prof Simon Heales Attendees: Joint Group C Room: Historische Stube Laboratory Workshop 1 Topic: Techniques, pitfalls & secondary changes in amino acid disorders Speaker: Dr Jörgen Bierau Attendees: Laboratory Scientists Group 1 15:30 16:00 Coffee break Lead: Dr Vassili Valayannopoulos Attendees: Joint Group D Lead: Dr Christine Vianey-Saban Attendees: Joint Group D Laboratory Workshop 2 Topic: Rare Compounds Speaker: Dr Christine Vianey-Saban Attendees: Laboratory Scientists Group 2 16:00 17:00 Joint Lecture 2 & Laboratory Scientists Topic: Metabolic cholestatic liver disease Speaker: Dr Mark Korson 19:30 Evening Meal for Academy (see separate map for details of the venue and location) A ticket is needed for admittance to the Academy Meal. If you registered and paid for the Academy meal a ticket is included in your delegate pack. Please note there will be no admittance to the meal without a ticket and no additional places are available. V: of 6

5 Day 2: Tuesday 19 th April 08:00 09:30 Joint Workshop 3 (4 concurrent workshops) & Laboratory Scientists Topic: Methionine & folic acid disorders: transsulphuration & remethylation pathways. Diagnosis & management of Homocystinuria and remethylation defects Lead: Dr Jörgen Bierau / Dr Andrew Morris Attendees: Joint Group A Lead: Prof Brian Fowler / Dr Shamima Rahman Attendees: Joint Group B 09:30 10:00 Coffee break 10:00 10:30 Clinical Lecture 2 Topic: Diagnosis & management of PKU (& Pterin defects) Speaker: Dr Andrew Morris 10:30-11:00 Clinical Lecture 3 Topic: Diagnosis & management of MSUD Speaker: Prof Dr Ute Spiekerkötter 11:00 11:30 Clinical Lecture 4 Topic: Diagnosis & management of Tyrosinemia type I Speaker: Dr Vassili Valayannopoulos 11:30 12:30 Lunch Lead: Prof Simon Heales/ Dr Ute Spiekerkötter Attendees: Joint Group C Room: Historische Stube Laboratory Workshop 1 Topic: Techniques, pitfalls & secondary changes in amino acid disorders Speaker: Dr Jörgen Bierau Attendees: Laboratory Scientists Group 2 Lead: Dr Christine Vianey-Saban/ Dr Vassili Valayannopoulos Attendees: Joint Group D Laboratory Workshop 2 Topic: Rare Compounds Speaker: Dr Christine Vianey-Saban Attendees: Laboratory Scientists Group 1 12:30 14:00 Case Discussions presented by delegates (No. = 6) & Laboratory Scientists 14:00 14:15 Coffee break 14:15 15:15 Case Discussions presented by delegates [continued] (No. = 4) & Laboratory Scientists 15:15 15:45 Quiz & Laboratory Scientists - The Joint and Clinical lectures will take place in the principal lecture theatre and all participants will stay together for these sessions. - For the Joint and Laboratory Scientist workshops the participants will rotate between workshops in groups as indicated on the list in the Programme pack at the meeting. V: of 6

6 Section Venue The 2016 Academy will be held on Monday 18 th and Tuesday 19 th April 2016 in Freiburg, Germany at: Historisches Kaufhaus Münsterplatz Freiburg, Germany Tel.: +49 (0) Fax: +49 (0) Website: Registration Please arrive between 08:00 and 08:15 on Monday 18th April at the Historisches Kaufhaus to pick up your Academy pack and badge before the Academy starts at 08:15. Only people previously informed that they have been awarded a place on the Academy course will be admitted Acknowledgement of Funding The Academy is wholly funded by SSIEM as an educational activity and is not supported by any industrial sponsorship. V: of 6

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