FINAL PROGRAMME
- SOCIETY FOR THE STUDY OF INBORN ERRORS OF METABOLISM
1
INDEX
2
WELCOME TO LISBOA 3 COMMITTEES 4 CONTACT DETAILS 5 ABOUT LISBOA 6 SYMPOSIUM VENUE - LISBOA CONGRESS CENTRE 7 ACCESSIBILITY OPENING HOURS On-Site REGISTRATION FLOOR PLANS LISBOA CONGRESS CENTRE 10 SCIENTIFIC PROGRAMME 11 Tuesday, 2 September 11 Wednesday, 3 September 13 Thursday, 4 September 15 Friday, 5 September 16 PARALLEL SESSIONS I,II,III 19 PARALLEL SESSIONS V,VI,VII 21 PARALLEL SESSIONS VIII,IX,X 23 PARALLEL SESSIONS XI,XII,XIII 26 DIETICIANS’ WORKSHOP (PARALLEL SESSION IV) 29 ERDNIM WORKSHOP PROGRAMME 31 WILSON WORKSHOP PROGRAMME 32 POSTER EXHIBITION 33 BUSINESS MEETINGS 34 SSIEM AGM Agenda 35 SSIEM COUNCIL INFORMATION 37 Membership Awards SPEAKERS INFORMATION 38 EXHIBITION INFORMATION 40 Exhibition Plan 41 SOCIAL PROGRAMME 42 THURSDAY AFTERNOON EXCURSION DETAILS 44 ACCOMPANYING PERSON PROGRAMME 49 SYMPOSIUM POST TOURS 53 IMPORTANT SYMPOSIUM INFORMATION 54 LISBOA GENERAL INFORMATION 59 SPONSORS LIST 61 LOCAL TRANSPORTATION INFORMATION 63 LISBOA CITY MAP 66/67
WELCOME TO LISBOA
Dear Colleagues and Friends, May I, on behalf of the Society and the local Organising Committee, extend to you a very friendly welcome to the Lisboa SSIEM 2008 Annual Symposium. We are delighted to have you with us. A great and committed effort was made by all involved in developing the Scientific Programme: we therefore believe that you will find it rewarding and stimulating. You have no doubt noticed that this year’s programme offers the opportunity for a greater number of Oral Communications within twelve Parallel Sessions. We are particularly proud to be able to celebrate in Lisboa, The Garrod Day – the hundredth anniversary of the concept of Inborn Errors of Metabolism. During your stay, we very much hope that you will be able to enjoy our city. The organised Symposium excursions will bring to you just a small taste of the city and all it offers: its culture, atmosphere and above all the Lisboa sunlight – inspiration to so many artists. Lisboa will do its best to make your stay comfortable and relaxing. We warmly welcome you all to Lisboa SSIEM 2008 Annual Symposium.
Isabel Tavares de Almeida President Annual Symposium 2008
Aguinaldo Cabral SPDM ex-President
Elisa Leão Teles SPDM President
SPDM – Sociedade Portuguesa das Doenças Metabólicas (Portuguese Metabolic Diseases Society)
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COMMITTEES
SCIENTIFIC COMMITTEE
LOCAL ORGANISING COMMITTEE Lisboa
Ana Gaspar
Lisboa
Cornelis Jakobs
Amsterdam
Fátima Ventura
Lisboa
Marinus Duran
Amsterdam
Isabel Rivera
Lisboa
Margarida FB Silva
Lisboa
Margarida FB Silva
Lisboa
Aguinaldo Cabral
Lisboa
Margarida Noronha
Lisboa
Clara Sá Miranda
Porto
Maria João Silva
Lisboa
Luisa Diogo
Coimbra
Paula Leandro
Lisboa
Elisa Leão Teles
Porto
Rita Castro
Lisboa
Jorge Azevedo
Porto
Filomena Eusébio
Lisboa
Laura Vilarinho
Porto
Isabel Rivera
Lisboa
Paula Leandro
Lisboa
Isabel Tavares de Almeida
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CONTACT DETAILS
SYMPOSIUM PRESIDENT Isabel Tavares de Almeida Centro de Patogénese Molecular - UBMBE Faculdade de Farmácia - Universidade de Lisboa Av. Prof. Gama Pinto, 1649-003 Lisboa Portugal
T: + 351 217 946 400 F: + 351 217 946 491 E-mail: ssiem2008@ff.ul.pt | italmeida@ff.ul.pt
GENERAL INFORMATION Registration, Hotel Accommodation, Excursions, Tours and Accompanying Person Programme Leading Congress & Association Management Largo da Lagoa, 15 F 2795-116 Linda-a-Velha / Lisboa Portugal
T: + 351 217 712 634 F: + 351 217 712 639 e-mail: ssiem2008secretariat@leading.pt ON SITE T: + 351 213 601 901
EXHIBITION INFORMATION Leading Congress & Association Management T: + 351 217 712 636 F: + 351 217 712 639 e-mail: ssiem2008exhibition@leading.pt ON SITE T: + 351 213 601 901
INFORMATION ON-LINE
www.ssiem2008.com
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ABOUT LISBOA
ABOUT LISBOA
Photo Antonio Sacchetti
Lisboa´s location, spread over seven low hills, overlooking the river Tejo, once lured traders and settlers, and continues to be a stunning site. Add to that the cultural diversity, a pleasantly temperate climate all yearround and a people that by longstanding tradition offer visitors a warm welcome. Medieval Alfama is the charming and oldest part of the city with its maze-like streets, crowned by the impressive Castelo de São Jorge. The Baixa’s commercial avenues lies just below. The elegant Chiado shopping area climbs away up another hill, next to Bairro Alto, home of much of the Lisbon nightlife. The westernmost part of the city, Belém, was the birthplace of the Age of Discoveries and Parque das Nações (the 98 World Expo site) in the northeast side of the city is an area full of 21st century avant-garde architecture built on a most impressive river side site.
A VERY BRIEF HISTORY… Lisboa dates back to pre-Roman times - legend has it that Ulysses founded the city, although it was more probably the Phoenicians. In its early years Lisbon was a constant battleground with Phoenicians, Greeks and Carthaginians taking turn to rule the city. In 714 the powerful Moors arrived and, by fortifying the city, held out against Christian attacks for over 400 years. By 1147 the Moors’ luck turned and the Christian Cruzaders recaptured Lisbon. The 16th century was Portugal’s short-lived golden era of sea exploration when riches were brought from across the oceans. In the late 17th century the discovery of gold in Brazil saw Lisbon enjoy another luxurious period but this time it was cut short by the massive earthquake in 1755 which reduced the city to rubble. In 1910 the monarchy fell and the first Portuguese Republic was proclaimed. Portugal’s democratic phase lasted until 1926, when a military coup reduced Portugal to a period of totalitarian regime under the dictator António Salazar. The costly colonial wars in 60`s and 70`s within African Portuguese territories, led to the “Carnation Revolution”, a nearly bloodless military coup on 25 April 1974. The new government instituted democratic reforms and granted independence to the African colonies in 1975. In 1986 Portugal became a full member of the European Union. 6
SYMPOSIUM VENUE
LISBOA CONGRESS CENTRE (CCL) The Annual Symposium will take place at the Lisboa Congress Centre, located on the riverside in the historical neighbourhood of Belém, where some of the magnificent Portuguese World Heritage Monuments are to be found.
ACCESSIBILITY The congress centre can be easily reached from the city centre, by tram or bus. However during the symposium there will be a transfer service by coach available to and from the symposium hotels for the delegates.
SSIEM TRANSFER SERVICE The organisation of the SSIEM 2008 will provide transfer service by coach from the symposium hotels to the Congress Centre and vice versa. Please see the departure schedule from the symposium hotels below. Information on timetables and pick up points will be placed in the lobby of each hotel. Should you have made your own accommodation arrangements, not using one of the listed SSIEM Symposium hotels, you can choose between the following transfer departure points: Corinthia Hotel, SANA Lisboa Hotel, Hotel Marquês de Pombal or Hotel Altis.
Transfer Hotels - Corinthia Hotel (pick up point for SANA Malhoa and Açores Lisboa Hotel) - VIP Grand Hotel (pick up point for VIP Berna, VIP Zurich, VIP Barcelona, SANA Executive and SANA Reno) - SANA Lisboa Hotel - Hotel Marquês de Pombal - Dom Pedro Palace - Hotel Altis - Amazónia Hotel Hotel Villa Galé Ópera is located within walking distance to the Lisboa Congress Centre.
Transfer Timetable Hotels
CCL
CCL
Hotels
Tuesday, 2 September
07:15
19:45 (after welcome reception)
Wednesday, 3 September
07:45
18:15 *)
Thursday, 4 September
07:45
Excursions
Friday, 5 September
08:15
16:15
*) optional transfer from CCL
EDP Electricity Museum - walking distance of 15 minutes from CCL 7
PUBLIC TRANSPORTS We suggest to use the Underground in direction of: Cais do Sodré (last station of the Green line) From Cais do Sodré use either bus or tramway with stops next to the Congress Centre, CCL, (approx. journey time 15 min). Bus 714 direction: OUTURELA Bus 732 direction: CASELAS Tramway E15 direction: ALGÉS CARRIS BUS/TRAM STOP DIRECTION CONGRESS CENTRE (CCL) CITY CENTRE
CARRIS BUS/TRAM STOP METRO
TRAIN STATION (TO CASCAIS) For further information see page 65.
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(GREENLINE) CAIS DO SODRÉ
REGISTRATION DESK OPENING HOURS The registration desk will be located in the main entrance lobby of the Lisboa Congress Centre. The registration desk opening hours will be as follows: Tuesday, 2 September 2008 Wednesday, 3 September 2008 Thursday, 4 September 2008 Friday, 5 September 2008
07:30 – 18:00 07:30 – 18:30 08:00 – 15:00 08:00 – 17:00
REGISTRATION ON SITE Delegates wishing to register ON SITE for the SSIEM 2008 Annual Symposium are invited to do so at the registration desk. The registration fees are as follows: SSIEM members* Non-members Students & Residents-in-Training** Single Day Ticket Accompanying Person
620 € 750 € 450 € 200 € 385 €
* The reduced registration fee for SSIEM members is only applicable if the annual membership fee has been paid. ** The reduced registration fee for Students & Residents-in-Training is only granted if a photocopy of the proof of students identity or statement of the head of the department is presented at the registration. Please note that full registration fee will be charged for registrations made without the above mentioned identification.
Registration Fees include: Full Delegate (SSIEM members, non members, Students & Residents-in-Training) - admission to all oral and poster sessions and exhibition area - the final programme - one copy of the Abstract book - coffee, tea and lunch bag during the symposium breaks - Welcome Reception, 2 September - Informal Dinner, 3 September - Symposium Dinner, 4 September - One excursion on Thursday afternoon, 4 September Single Day Ticket - admission to all oral and poster sessions and exhibition area - the final programme - one copy of the Abstract book - coffee, tea and lunch bag during the symposium breaks of the day/days of the ticket Accompanying Person - Welcome Reception, 2 September - Informal Dinner, 3 September - Symposium Dinner, 4 September - One excursion on Thursday afternoon, 4 September 9
FLOOR PLANS
Auditorium I, II, III & IV First Floor
Meeting point/Messages Main Lobby - Ground Floor
Cloakroom
Main Lobby - Ground Floor
Poster Exhibition
Pavilion 3 - Ground Floor
Exhibition
Pavilion 4 - First Floor
Poster Exhibition
Pavilion 5 - First Floor
Internet cafĂŠ
Pavilion 5 - First Floor
Registration Desks
Main Lobby - Ground Floor
Meeting Room 5A&B
Pavilion 5 - First Floor
Speakers Room
1.09&1.14 - First Floor
FIRST FLOOR
GROUND FLOOR
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SCIENTIFIC PROGRAMME
TUESDAY, 2 SEPTEMBER 2008 07:30 - 09:00 09:00 - 12:40
Registration ERNDIM Meeting
ROOMS 1.04-1.08 + AUDITORIUM II (AII) full programme page 31
11:00 - 12:40
Wilson’s Disease Workshop
ROOM 5A full programme page 32
09:00 - 12:40
Nutrition and Dietary Treatment Workshop
AUDITORIUM I (AI)
Dietary Management on Energy Metabolism Defects Chairpersons: H. Ogier de Baulny (Paris, France) J. Leonard (London, UK) 09:00 - 09:30
Dietary manipulation on Pyruvate Dehydrogenase complex deficiency. W. Sperl (Salzburg, Austria)
09:30 - 10:00
Tolerance to fast: rational and practical evaluation in children with hypoketonemia. J. Walter (Manchester, UK)
10:00 - 10:30
The role of medium-chain triglycerides in the management of energy metabolism defects. S. Grunewald (London, UK)
10:30 - 11:00
Coffee Break
11:00 - 12:40
Benefits and Risks of Dietetic Supplements. Chairpersons: xxxxxxxxxxxx 11
11:00 - 12:40 Benefits and Risks of Dietetic Supplements Chairpersons: J. Walter (Manchester, UK) G. F. Hoffman (Heidelberg, Germany) 11:00 - 11:25
Supply of Creatine. S. Stรถckler (Vancouver, Canada)
11:25 - 11:50
Supply of Carnitine. F. Wijburg (Amsterdam, The Netherlands)
11:50 - 12:15
Supply of long-chain polyunsaturated fatty acids (PUFA). B. Koletzko (Munich, Germany)
12:15 - 12:40
B-Vitamin: manipulation of folate / homocysteine metabolism H. Blom (Amsterdam, The Netherlands)
12:40 - 14:00
Lunch
12:50 - 14:00
SSIEM Council and corresponding members meeting
A working lunch will be available
12
ROOM 5B
14:15 - 14:30 14:30 - 16:00
OPENING CEREMONY
AUDITORIUM I
(AI)
AUDITORIUM I
(AI)
Opening of the SSIEM 2008 Annual Symposium Isabel Tavares de Almeida, Congress President Ant贸nio Sampaio da N贸voa, Lisboa University Rector (TBC) PLENARY SESSION I Metabolic Networks and Interactions Chairpersons: J.M. Saudubray (Paris, France) M. Duran (Amsterdam, The Netherlands)
14:30 - 15:00
Metabolic programming: role of nutrition in the immediate postnatal life. M. Patel (Buffalo, USA)
15:00 - 15:30
L-2- hydroxyglutaric aciduria, a disorder of metabolite repair. E. Van Schaftingen (Brussels, Belgium)
15:30 - 16:00
Glycomics and the future of O-glycosylation defects. J.C. Michalski (Lille, France)
16:00 - 16:30
Coffee Break
16:30 - 18:30
PLENARY SESSION II
AUDITORIUM I
(AI)
Metabolic Networks and Interactions (continue) Chairpersons: R. Wanders (Amsterdam, The Netherlands) P. Mayne (Dublin, Ireland) (TBC)
16:30 - 17:00
Pyruvate dehydrogenase kinase 4 and its role in regulation of energy processes. R. A. Harris (Indianapolis, USA)
17:00 - 17:30
Control of metabolic pathways through transcriptional co-factors. S. Herzig (Heidelberg, Germany)
17:30 - 18:00
Metabolic and inflammatory control by the PPAR nuclear receptor family. B. Staels (Lille, France)
18:00 - 18:30
Organelle dynamics: a closer link between peroxisomes and mitochondria. M. Schrader (Aveiro, Portugal)
18:30 - 19:45
Welcome Reception
Welcome to the city of Lisboa Ant贸nio Costa, Mayor of Lisboa (TBC) Port Wine Reception
AUDITORIUM I
(AI) / CCL LOBBIES
13
WEDNESDAY, 3 SEPTEMBER 2008 08:30 – 10:30
PLENARY SESSION III
AUDITORIUM I
(AI)
Defects in the synthesis of mtDNA encoded proteins Chairpersons: A. Morris (Manchester, UK) J. Clarke (Toronto, Canada) 08:30 - 09:00
The role of mitochondrial DNA in disease. H.J. Smeets (Maastricht, The Netherlands)
09:00 - 09:30
Aspartyl-tRNA synthase deficiency. M. van der Knaap (Amsterdam, The Netherlands)
09:30 - 10:00
Nuclear encoded defects in mitochondrial translation. O. Elpeleg (Jerusalem, Israel)
10:00 - 10:30
Disorders of mtDNA maintenance. M. Zeviani (Milan, Italy)
10:30 - 11:00
Coffee Break
11:00 – 12:30
PARALLEL SESSIONS (I + II + III)
11:00 – 17:30
PARALLEL SESSION IV - DIETICIANS’ WORKSHOP
12:30 - 14:00
Lunch and Poster Viewing
12:45 - 13:50
SSIEM AGM (Annual General Meeting)
14:00 - 15:30
PARALLEL SESSIONS (V + VI + VII)
15:30 - 16:00
Coffee Break
full programme page 19 full programme page 29
full programme page 21
14
16:00 - 18:00
PLENARY SESSION IV
AUDITORIUM I
(AI)
Lysosomal Disorders Chairpersons: J. Azevedo (Porto, Portugal) G. Besley (Manchester, UK) Pathogenic cascades in Lysosomal disease – why so complex? S.U. Walkley (New York, USA)
16:30 - 17:00
Hermansky-Pudlak syndrome and the biogenesis of lysosome-related organelles. E.C. Dell´Angelica (Los Angeles, USA)
17:00 - 17:30
Secretory Lysosomes: Biogenesis and functions of exosomes in health and disease. G. Raposo (Paris, France)
17:30 - 18:00
Niemann-Pick C disease: An example of a complex lysosomal / endosomal lipidosis. M.T. Vanier (Lyon, France)
19:00 - 22:00
Informal Dinner EDP ELECTRICITY MUSEUM
Photo Antonio Sacchetti
16:00 - 16:30
15
THURSDAY, 4 SEPTEMBER 2008 08:30 – 10:00
PLENARY SESSION V
Metabolic Causes of Neonatal Epilepsy Chairpersons: M. Gibson (Pittsburgh, USA)
AUDITORIUM I
(AI)
J. Zschocke (Heidelberg, Germany)
08:30 - 09:00
Epileptogenesis: genetics, metabolism and the role of febrile seizures.
F. Lopes da Silva (Lisboa, Portugal / Amsterdam, The Netherlands)
09:00 - 09:30
Neonatal metabolic epileptic encephalopathies.
B. Plecko (Graz, Austria)
09:30 - 10:00
Treatment models for epilepsy.
P. L. Pearl (Washington, USA)
10:00 - 10:30
Coffee Break
10:30 - 12:00
PARALLEL SESSIONS (VIII + IX + X)
full programme page 23
12:00 - 13:00
Lunch and Poster Viewing
13:00 - 14:30
PARALLEL SESSIONS (XI + XII + XIII) full programme page 26
15:00 - 18:00
Afternoon Excursions
Departure from the Main Entrance of the Congress Centre
20:00 - 24:00
Symposium Banquet Dinner
CONVENTO DO BEATO
16
FRIDAY, 5 SEPTEMBER 2008 Inborn Errors of Metabolism One Century after Garrod
THE GARROD DAY
Chairpersons:
AUDITORIUM I
(AI)
C. Jakobs (Amsterdam, The Netherlands) L. Rosenberg (Princeton, USA)
09:00 - 09:15
Opening Ana Jorge, Minister of Health (TBC) Cornelis Jakobs, SSIEM Chairman
09:15 - 09:30
Introduction. L.E. Rosenberg (Princeton, USA)
09:30 - 09:55
Archibald Garrod: 1858 - 1936. D. Galton (London, England)
09:55 - 10:35
Garrod´s four diseases: what has happened since? C. Scriver (Montreal, Canada)
10:35 - 11:05
Coffee Break
11:05 - 11:40
Dominant versus recessive: molecular mechanisms in metabolic disease. J. Zschocke (Heidelberg, Germany)
11:40 - 12:20
Synergistic heterozygosity – interaction of variants in several pathways. J. Vockley (Pittsburgh, USA)
12:20 - 13:00
Chemical individuality – concept and outlook. W.A. Gahl (Bethesda, USA)
13:00 - 14:00
Lunch and Poster Viewing
14:00 - 15:00
Komrower lecture Chairperson:
15:00 - 15:30
Awards 2009 Presentation: ICIEM 2009, J. Vockley (Pittsburgh, USA)
15:30 - 15:45
CLOSURE
C. Jakobs (Amsterdam, The Netherlands)
Mitochondrial fatty acid oxidation defects: remaining challenges. N. Gregersen (Aarhus, Denmark)
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PARALLEL SESSIONS PROGRAMME
WEDNESDAY, 3 SEPTEMBER 2008
11:00 - 12:30
PARALLEL SESSION I
ROOM 5A+5B
PHENYLKETONURIA Chairpersons: N. Blau (Zurich, Switzerland) M. Cleary (London, UK)
11:00 - 11:15 327-O
New insights into phenylalanine hydroxylase kinetics and the mutual impact of substrate and cofactor concentrations. M. Staudigl (Munich, Germany)
11:15 - 11:30 304-O
Interallelic complementation and phenylketonuria: isolation of hybrid forms of human phenylalanine hydroxylase (hPAH). J. Leandro (Lisboa, Portugal)
11:30 - 11:45 296-O
Reduced cerebral fluoro-L-dopa uptake and release in adult PKU patients. R. Santer (Hamburg, Germany)
11:45 - 12:00 333-O
Experience with large neutral amino acids (LNAA) in the treatment of phenylketonuria (PKU). R. Matalon (Gavelston, USA)
12:00 - 12:15 317-O
Ineffectiveness of tetrahydrobiopterin in phenylalanine hydroxylase deficiency. F. Porta (Torino, Italy)
12:15 - 12:30 335-O
Long-term correction of hyperphenylalaninemia in a mouse model for PKU by liver or intramuscular delivery of AAV expressing PAH with various serotypes. B. Tony (Zurich, Switzerland)
11:00 - 12:30
PARALLEL SESSION II
AUDITORIA III/IV (AIII + AIV)
CARBOHYDRATE / GLYCOSYLATION DISORDERS Chairpersons: J. Jaeken (Leuven, Belgium) F. Skovby (Copenhagen, Denmark) 11:00 - 11:15 181-O
Paroxysmal exercise-induced dyskinesia and epilepsy due to mutations in SLC2A1, encoding the glucose transporter, GLUT1. D. Cassiman (Leuven, Belgium)
11:15 - 11:30 199-O
Cutis laxa syndromes with Congenital Disorder of Glycosylation: clinical, biochemical and genetic review. E. Morava (Nijmegen, The Netherlands) 19
11:30 - 11:45 194-O
Immunological, developmental and behavioural abnormalities in a mouse model for Congenital Disorder of Glycosylation-IIc. D. Popovic (Heidelberg, Germany)
11:45 - 12:00 189-O
A possible role for the Conserved Oligomeric Golgi Complex subunit 1 (Cog1) in autosomal recessive Cerebrocostomandibular syndrome. R. Zeevaert (Leuven, Belgium)
12:00 - 12:15 163-O
Glycogen Storage Disease Type IX (GSD IX) with an unusual PHKB mutation presenting with developmental delay, deafness, hypotonia and hepatopathy. N.J. Beauchamp (Sheffield, UK)
12:15 - 12:30 182-O
Pancreatic dopamine metabolism in congenital hyperinsulinism. A [18F]fluoro-L-DOPA PET study. M.J. Ribeiro (Orsay, France)
11:00 - 12:30
PARALLEL SESSION III
AUDITORIUM I (AI)
MITOCHONDRIAL DISORDERS Chairpersons: O. Elpeleg (Jerusalem, Israel) L. de Meirleir (Brussels, Belgium)
11:00 - 11:15 211-O
Pyruvate Dehydrogenase Phosphatase (PDP1) deficiency. Infantile lactic acidemia and severe phenotype due to a null mutation. B.H. Robinson (Toronto, Canada)
11:15 - 11:30 207-O
Defects in ATP synthesis are associated with hypertrophic cardiomyopathy. W. Sperl (Salzburg, Austria)
11:30 - 11:45 247-O
Myopathy with deficiency of succinate dehydrogenase and aconitase together with cardiomyopathy. associated with mutations in ISCU. G. Kollberg (GĂśteborg, Sweden)
11:45 - 12:00 220-O
Expanding knowledge on SUCLG1 mutations causing atypical methylmalonic aciduria. C. Dionisi-Vici (Roma, Italy)
12:00 - 12:15 244-O
LRPPRC mutations in French-Canadian Leigh syndrome cause a phenotypically distinct form of cytochrome c oxidase deficiency. F.G. Debray (Liège, Belgium)
12:15 - 12:30 242-O
Identification of novel and recurrent mitochondrial DNA mutations in paediatric onset mitochondrial disease using the MitoChip resequencing array. S. Ranman (London, UK)
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14:00 - 15:30
PARALLEL SESSION V
ROOM 5A+5B
HOMOCYSTEINURIA AND RELATED DISORDERS Chairpersons: W. A. Gahl (Bethesda, USA) H. Blom (Amsterdam, The Netherlands)
14:00 - 14:15 030-O
Biochemical and molecular neonatal screening for homocystinuria in the Qatari population. T. Ben-Omran (Doha, Qatar)
14:15 - 14:30 052-O
CblD defect of vitamin B12 metabolism: molecular mechanism whereby mutations in the MMADHC gene cause three different phenotypes. D. Coelho (Basel, Switzerland)
14:30 - 14:45 032-O
No longer just an intermediate: Cystathionine protects against endoplasmic reticulum stress induced lipid accumulation and apoptotic cell death. K. N. Maclean (Aurora, USA)
14:45 - 15:00 045-O
Mutations in cystathionine gamma-lyase gene and their phenotypic consequences. V. Kozich (Prague, Czech Republic)
15:00 - 15:15 035-O
S-adenosyl homocysteine hydrolase inhibition affects protein and DNA methylation in HUVEC. R. Castro (Lisbon, Portugal)
15:15 - 15:30
Inhibition of methylation and changes in gene expression in relation to neural tube defects. H. Blom (Amsterdam, The Netherlands)
036-O
14:00 - 15:30
PARALLEL SESSION VI
AUDITORIA III/IV (AIII + AIV)
UREA CYCLE AND AMINO ACID DISORDERS Chairpersons: J. Campistol (Barcelona, Spain) T. Coskun (Ankara, Turkey)
14:00 - 14:15 029-O
Hepatocyte transplantation (htx) extends lifespan, increases branched chain alpha-keto acid dehydrogenase (BCKDH) activity, and improves amino acid profiles in a murine model of intermediate maple syrup urine disease (iMSUD). K.J. Skvorak (Pittsburgh, USA)
14:15 - 14:30 027-O
Interference of valproic acid on the branched chain amino acid oxidative metabolism. P.B.M. Luis (Lisboa, Portugal)
14:30 - 14:45 349-O
Analysis of residual enzyme activities in citrullinemia type I by in-vitro expression studies. C. Berning (M端nster, Germany) 21
14:45 - 15:00 357-O
Citrin deficiency: prolonged neonatal jaundice and failure to thrive. A.P. Fernandes (Guimar達es, Portugal)
15:00 - 15:15 356-O
Hindsight into urea cycle defects affecting regulatory sites: the acetylglutamate site of carbamoyl phosphate synthetase I (CPSI) and the arginine site of acetylglutamate synthase (AGS). V. Rubio (Valencia, Spain)
15:15 - 15:30 364-O
Long-term quantification of enzyme transfer by liver cell transplantation (LCT) for neonatal carbamoylphosphate synthase 1 (CPS1) deficiency. J. Meyburg (Heidelberg, Germany)
14:00 - 15:30
PARALLEL SESSION VII
AUDITORIUM I (AI)
FATTY ACID DISORDERS Chairpersons: B. Wilcken (Westmead, Australia) C. Vianey-Saban (Lyon, France)
14:00 - 14:15 115-O
Unique organization of the mitochondrial beta-oxidation in insulin-producing betacells: discrepantly high L-3-hydroxyacyl-coA dehydrogenase expression and its role in glucose sensing. G.A. Martens (Brussels, Belgium)
14:15 - 14:30 143-O
Expression patterns of organic cation/carnitine transporter family in adult murine heart: implications for hypertrophic cardiomyopathy and arrhythmias. I. Tein (Toronto, Canada)
14:30 - 14:45 138-O
Mitochondrial long chain fatty acid oxidation: man versus mouse. M. Chegary (Amsterdam, The Netherlands)
14:45 - 15:00 133-O
Studies on the substrate specificity of Carnitine Palmitoyltransferase 2: Implications for acylcarnitine profiling. S. Violante (Lisboa, Portugal)
15:00 - 15:15 125-O
Development of dilative cardiomyopathy in carnitine-supplemented very long-chain acyl-CoA dehydrogenase-deficient mice as studied by in-vivo NMR. U. Spiekerkoetter (D端sseldorf, Germany)
15:15 - 15:30 141-O
Investigation of the effect of riboflavin on the steady-state amount of variant Electron Transfer Flavoproteins (ETF:QO) identified in patients with Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenase Deficiency (RR-MADD). R. K. J. Olsen (Aarhus, Denmark)
22
THURSDAY, 4 SEPTEMBER 2008 10:30 - 12:00
PARALLEL SESSION VIII
AUDITORIUM I (AI)
LYSOSOMAL (AND PEROXISOMAL) DISORDERS (I) Chairpersons: G. Besley (Manchester, UK) J. Gaertner (Gรถttingen, Germany)
10:30 - 10:45 257-O
Peroxisomal disorders and newborn screening. S. Tortorelli (Rochester, USA)
10:45 - 11:00 268-O
Identification of three PEX16-defective patients with import competent peroxisomes in fibroblasts. M.S. Ebberink (Amsterdam, The Netherlands)
11:00 - 11:15 259-O
Screening small molecules for rescue of peroxisome assembly defects. N.E. Braverman (Montreal, Canada)
11:15 - 11:30 385-O
LIMP-2 sorting pathway: a cell type specific deficiency of beta-glucocerebrosidase. M.C. Sรก Miranda (Porto, Portugal)
11:30 - 11:45 380-O
New mutation in M. Anderson-Fabry: effect on lipid composition, lipid raft-associated proteins and enzyme trafficking. A.M. Das (Hannover, Germany)
11:45 - 12:00 388-O
Disease severity in Multiple Sulfatase deficiency is determined by stability and residual activity of mutant formyl-glycine-generating enzyme. L. Schlotawa (Gรถttingen, Germany)
23
10:30 - 12:00
PARALLEL SESSION IX
AUDITORIA III/IV
(AIII /A IV)
CREATINE AND VITAMIN DISORDERS Chairpersons: S. Stรถckler (Vancouver, Canada) G. Salomons (Amsterdam, The Netherlands)
10:30 - 10:45 272-O
Brain cells take up guanidinoacetate and convert it to creatine. O. Braissant (Lausanne, Switzerland)
10:45 - 11:00 280-O
Identification and cloning of a novel splice variant of the creatine transporter gene SLC6A8. G. Salomons (Amsterdam, The Netherlands)
11:00 - 11:15 288-O
Creatine synthesis and transport defects : diagnosis and treatment in a series of 7 patients. V. Valayannopoulos (Paris, France)
24
11:15 - 11:30 287-O
S-adenosyl-methionine may be beneficial for decreasing guanidinoacetate in GAMT deficiency. D.L. Renaud (Rochester, USA)
11:30 - 11:45 290-O
Asperger autism associated with folate receptor autoantibodies and cerebral folate deficiency. V. Ramaekers (Liège, Belgium)
11:45 - 12:00 291-O
Renal NaS1 sulfate transporter defect in autistic patients. F. G. Bowling (Brisbane, Australia)
10:30 - 12:00
PARALLEL SESSION X
ROOM 5A+5B
ORGANIC ACID DISORDERS (I) Chairpersons: C. Dionisi-Vici (Rome, Italy) L. Sweetman (Dallas, USA)
10:30 - 10:45 057-O
Are the current methods of treatment for methylmalonic acidemia adequate? R. Matalon (Gavelston, USA)
10:45 - 11:00
Methylmalonyl-CoA
064-O
methylmalonate production in CNS. D. Ballhausen (Lausanne, Switzerland)
11:00 - 11:15 083-O
Implication of birth cohort, age at onset, enzymatic subgroup and cobalamin responsiveness on long-term outcome in isolated methylmalonic acidurias. F. HĂśrster (Heidelberg, Germany)
11:15 - 11:30 069-O
11:30 - 11:45 112-O
11:45 - 12:00 097-O
mutase
expression
in
rat
brain
suggests
autonomous
3-Hydroxyisobutyric aciduria due to methylmalonate semialdehyde dehydrogenase deficiency. J.O. Sass (Freiburg, Germany) Multiple OXPHOS deficiency and mitochondrial DNA depletion in tissues of patients with methylmalonic and propionic aciduria. Y. de Keyzer (Paris, France) Fetal liver cell transplantation for methylmalonic aciduria using mice with an intermediate phenotype. H. Peters (Parkville, Australia)
25
13:00 - 14:30
PARALLEL SESSION XI
AUDITORIUM I (AI)
LYSOSOMAL DISORDERS (II) Chairpersons: R. Santer (Hamburg, Germany) G. Andria (Napoli, Italy)
13:00 - 13:15 386-O
Surrogate biochemical markers for lysosomal storage disorders. M. Fuller (Adelaide, Australia)
13:15 - 13:30 395-O
Digital Microfluidics: a novel platform for multiplexed detection of lysosomal storage diseases with potential for neonatal screening. D. Millington (Durham, USA)
13:30 - 13:45 384-O
Slowly progressive clinical phenotype of Sanfilippo A patients exhibiting the mutation p.S298P. N.M. Muschol (Hamburg, Germany)
13:45 - 14:00 390-O
Miglustat in patients with Niemann-Pick Type C disease (NPC): a multicentre retrospective survey. M. Pineda (Barcelona, Spain)
14:00 - 14:15 379-O
Placebo-controlled study of Alglucosidase Alfa in adults with Pompe Disease. A. van der Ploeg (Rotterdam, The Netherlands)
14:15 - 14:30 392-O
Lentivirus mediated gene therapy for murine model of pompe disease. S.O. Kyosen (Tokyo, Japan)
13:00 - 14:30
PARALLEL SESSION XII
ROOM 5A+5B
NEUROTRANSMITTER DISORDERS Chairpersons: S. Heales (London, UK) V. Kozich (Prague, Czech Republic)
13:00 - 13:15 546-O
Pyridoxal phosphate availability and Aromatic Amino Acid Decarboxylase activity. Implications for AADC deficiency and inborn errors of vitamin B6 metabolism. S. Heales (London, UK)
13:15 - 13:30 550-O
Mutations in urocanase gene in a patient with urocanic aciduria, mental retardation and intermittent ataxia. R. Artuch (Barcelona, Spain)
13:30 - 13:45 547-O
Amino acid and neurotransmitter abnormalities in murine intermediate Maple Syrup Urine Disease (iMSUD): significant improvement of cerebral dopamine and serotonin deficiency with hepatocyte transplantation (HTx). M. Gibson (Pittsburgh, USA)
26
13:45 - 14:00 548-O
Effect of patient-derived mutations on 3-phosphoglycerate dehydrogenase multimerization and function. L. Tabatabaie (Utrecht, Netherlands)
14:00 - 14:15 543-O
Pramipexole in tetrahydrobiopterin deficiency. F. Porta (Torino, Italy)
14:15 - 14:30 551-O
Dihydrolipoamide acetyltransferase deficiency in cases of atypical pantothenate kinase associated neurodegeneration. C.A. McWilliam (Glasgow, UK)
13:00 - 14:30
PARALLEL SESSION XIII
AUDITORIA III / IV
(AIII / AIV)
ORGANIC ACID DISORDERS (II) Chairpersons: M. Ugarte (Madrid, Spain) F.R. Feillet (V. de Nancy, France) (TBC)
13:00 - 13:15 091-O
Glutaric aciduria type 1: synthesis, enzymatic activity, stability, and oligomerisation of mutant glutaryl-CoA dehydrogenase. C. MĂźhlhausen (Hamburg, Germany)
13:15 - 13:30 067-O
Characterization of a weak but specific efflux transport of glutaric, 3-hydroxyglutaric, and methylmalonic acid across the blood-brain barrier. S.W. Sauer (Heidelberg, Germany)
13:30 - 13:45 072-O
Dynamic changes of striatal and extrastriatal MR abnormalities in glutaric aciduria type I. S. KĂślker (Heidelberg, Germany)
13:45 - 14:00 077-O
Aminoacylase 1 in vivo and in vitro. J.O. Sass (Freiburg, Germany)
14:00 - 14:15 106-O
Aspartoacylase entry to the brain of canavan mouse with hyaluronidase. R. Matalon (Galveston, USA)
14:15 - 14:30 107-O
CpG islands around exon 1 in Succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene were hypomethylated even in human and mouse hepatic tissues where SCOT gene expression was completely suppressed. T. Fukao (Gifu, Japan)
27
DIETITIANS’ WORKSHOP PROGRAMME
Wednesday, 3 September 11:00 - 17:30
PARALLEL SESSION IV
Organising Committee: M.F. Almeida (Porto, Portugal) M. Dixon (London, UK) R. Link (Wiesbaden, Germany) A. MacDonald (Birmingham, UK) M. Van Rijn (Groningen, The Netherlands)
DIETITIANS’ WORSHOP
AUDITORIUM II (AII)
Fatty acid Oxidation disorders: do we have consensus on dietary management? Chairpersons: M.F. Almeida (Porto, Portugal) A. Morris (Manchester, UK) 11:00 - 11:25
The USA perspective. R. Singh (Georgia, USA)
11:25 - 11:50
One European perspective. U. Spiekerkotter (Düsseldorf, Germany)
11:50 - 12:15
Practical aspects. E. van der Louw (Rotterdam, The Netherlands)
12:15 - 12:30
Discussion
12:30 - 14:00
Lunch and Poster Viewing
14:00 - 15:30 FREE COMMUNICATIONS Chairpersons: A. MacDonald (Birmingham, UK) F. J. van Spronsen (Groningen, The Netherlands) 14:00 – 14:30
The use of the ketogenic diet in IMD and epilepsy. D. van den Hurk (Utrecht, The Netherlands)
14:30 – 14:45
PKU management across Europe. K. Ahring (Hellerup, Denmark)
14:45 - 15:00 566-O
Three or four protein substitutes per day in preconception and maternal phenylketonuria (PKU)? C.M. Maritz (London, UK)
15:00 – 15:15 567-O
Assessment of body composition on GSD type I patients. A. Faria (Coimbra, Portugal). 29
15:15 - 15:30 571-O
Dietary therapy in isovaleric acidaemia. E.J. Footitt (London, UK)
15:30 – 16:00
Coffee Break
16:00 – 17:30
FREE COMMUNICATIONS
EUROPEAN METABOLIC DIETETIC GROUP Chairpersons: M. van Rijn (Groningen, The Netherlands) A. Faria (Coimbra, Portugal) 16:00 – 16:15 560-O
Nutritional management of PKU in Saudi Arabia. S. A. Aljammaz (London, UK)
16:15 – 16:30 556-O
Cessation of protein substitute in tyrosinaemia type III. A. Daly (Birmingham, UK)
16:30 -16:45 572-O
Improvement in cardiomyopathy in a case of malonyl-CoA decarboxylase deficiency on LCT- restricted /MCT supplemented diet. E.J. Footitt (London, UK)
16:45 - 17:00
Practicalities of emergency regimens in IMD.
576-O
A. MacDonald (Birmingham, UK)
17:00 - 17:30
European Metabolic Dietetic Group (EMDG): an Update. M. van Rijn (Groningen, The Netherlands) R. Link (Wiesbaden, Germany)
17:30
End of the Session
Interpretation Service In order to promote international exchange of information, simultaneous translation in English/German/ French/Portuguese will be available. Please collect the equipment (receiver and headphones) at the entrance of Auditorium II (AII) in good time. Please make sure that you return your receiver and headphones to the staff by the end of the Workshop on Wednesday, 3 September. Each user is liable for the return of the equipment and subject to a penalty of 400€ for not delivered equipment.
30
ERDNIM WORKSHOP PROGRAMME
Tuesday, 2 September 09:00 - 12:40
ERNDIM MEETINGS
09:00 - 10:30
Diagnostic Proficiency Testing (DPT) Group Meetings
Room 1.04
DPT – Sheffield Chairperson: J. Bonham (Sheffield, UK)
Room 1.05
DPT – Amsterdam / Nijmegen Chairperson: M. Duran (Amsterdam, The Netherlands)
Room 1.06
DPT – Basel Chairperson:
B. Fowler (Basel, Switzerland)
Room 1.07
DPT – Prague Chairperson:
V. Kozich (Prague, Czech Republic)
Room 1.08
DPT – Lyon Chairperson:
C. Vianey-Saban (Lyon, France)
10:30 - 11:00
Coffee Break
11:00 - 12:40
ERNDIM WORKSHOP
Chairpersons:
11:00 - 11:20
Erndim activities – an update, from the board. B. Fowler (Basel, Switzerland)
11:20 - 11:40
Common DPT sample 2008. V. Kozich (Prague, Czech Republic)
11:40 - 12:00
Clinical aspects of creatine synthesis disorders. S. Stöckler (Vancouver, Canada)
12:00 - 12:20
Diagnostic approaches for creatine synthesis disorders. G. Salomons (Amsterdam, The Netherlands)
12:20 - 12:40
Performance in related Erndim special assays. A. Burlina (Padova, Italy)
12:40
End of the Session.
ROOMS 1.04 - 1.08
AUDITORIUM II (AII) B. Fowler (Basel, Switzerland) A. Burlina (Padova, Italy)
31
WILSON’S DISEASE WORKSHOP PROGRAMME
Tuesday, 2 September 11:00 - 12:40
WILSON´S DISEASE WORKSHOP
Chairpersons:
ROOM 5A
S. Tanner (Sheffield, UK) R. Houwen (Utrecht, The Netherlands)
11:00 - 11:20
Molecular pathology of Wilson´s disease. P. Ferenci (Vienna, Austria)
11:20 - 11:40
Clinical presentations of Wilson´s disease. A. Vegnente (Napoli, Italy)
11:40 - 12:00
Diagnostic problems, including differential diagnosis of the infant with disturbed liver
function tests. P. Socha (Warsaw, Poland)
12:00 - 12:20
EuroWilson: the first prospective Europe-wide study of Wilson`s disease. S. Tanner (Sheffield, UK)
12:20 - 12:40
Proposed clinical trials. R. Houwen (Utrecht, The Netherlands)
12:40
End of the Session.
32
POSTER EXHIBITION
PAVILION 3 & PAVILION 5 The Poster Exhibition will take place in Pavilion 3 located on the ground floor and in Pavilion 5 located on the first floor of the Congress Centre. All Posters will be displayed for the entire duration of the SSIEM 2008 Symposium. The opening hours of the Poster Exhibition are as follows:
Wednesday, 3 September Thursday, 4 September Friday, 5 September
09:00 – 18:00 09:00 – 17:00 09:00 – 15:00
The POSTER VIEWING HOURS are as follows:
Wednesday, 3 September Thursday, 4 September Friday, 5 September
12:30 – 14:00 12:00 – 13:00 13:00 – 14:00
During the Poster Viewing Hours, poster authors are kindly requested to be present in the area of their poster in order to answer any questions that interested viewers may have. Authors are kindly requested to mount and dismount their posters during the periods mentioned below. Please note that all Posters which have not been removed by the author until 17:00 on Friday, 5 September, will automatically be discarded. Poster mounting timetable: Poster dis-mounting timetable:
Tuesday, 2 September 09:00 – 18:00 Friday, 5 September 15:00 – 16:00
Staff members will be available to assist authors on site during the poster mounting and dismounting periods. Material to mount posters will be made available at the Poster Desks in PAVILION 5. Posters Mounting: Posters can only be fixed on poster boards, using the fixing material provided at the Poster Desks.
33
BUSINESS MEETINGS
The following business meeting will be held during the SSIEM 2008 Symposium. Please note that the SSIEM Annual General Meeting is only open to SSIEM members. Access to the Council, Board and Editors meetings is also restricted.
BUSINESS MEETINGS SSIEM 2008 Meeting
Day
Time
Location
• JIMD Editorial Board Meeting
Tue, 2 Sept.
10:30-12:40
Room 1.03 (Hall 4, First Floor)
• SSIEM Council and corresponding members meeting
Tue, 2 Sept.
12:45-14:00
Room 5B (Hall 5, First Floor)
• IOC Board Meeting
Tue, 2 Sept.
18:45-19:30
Room 1.08 (Hall 4, First Floor)
• SSIEM Annual General Meeting
Wed, 3 Sept
12:45-14:00
Auditorium I (AI, First Floor)
• JIMD Communicating Editor Meeting
Thu, 4 Sept.
12:00-13:00
Auditorium VIII (First Floor)
34
SSIEM ANNUAL GENERAL MEETING AGENDA
THE SOCIETY FOR THE STUDY OF INBORN ERRORS OF METABOLISM ANNUAL GENERAL MEETING (AGM) - 2008 Wednesday, 3 September 12:45 – 13:50 Auditorium I (AI)
AGENDA 1. Apologies for absence
2. To receive the minutes of the previous meeting held at Hamburg, Germany on Thursday 6th September 2007
3. Matters arising from the previous meeting
4. JIMD report
5. ETAC (Education, Training & Advisory Committee)
6. Honorary Treasurer’s report
7. Annual subscription: 2008
8. Honorary Secretary’s report
9. Website report
10. Future meetings, bids for SSIEM 2012 and ICIEM 2013
11. IOC - report (ICIEM – San Diego 2009)
12. Council officers/ Election of council members
13. Corresponding members
14. President for 2010
15. Election of Auditors
16. Any other business
Cornelis Jakobs (SSIEM Chairman)
35
SSIEM COUNCIL INFORMATION
SSIEM MEMBERSHIP The organisers encourage participants to become members of SSIEM, the Society for the Study of Inborn Errors of Metabolism. For further details and the application form, please contact the Assistant to the Treasurer at the SSIEM desk, located close to the Registration Area throughout the entire symposium. You are also welcome to contact SSIEM per e-mail:ssiem_mjh@onetel.com
SSIEM AWARDS Two awards of 1500 € and 500 € for the two best free presentations will be presented following the last session of the Annual Symposium 2008.
37
SPEAKERS INFORMATION
All presentations held during the SSIEM 2008 Annual Symposium are supported by the in house presentation network system. As already informed all presentations must registered in this system in advance in order to guarantee a problem free presentation for each speaker. We kindly ask all speakers to visit the speaker room directly after registering at the symposium, in order to up load, check or alter your presentation. The speaker room 1.09/1.14, is located on the first floor, with access from the Main lobby on the First Floor or the pass way between Pavilion 4 and 5 on the First Floor. Computers with open USB ports for PC-formatted USB flash drives and CD-ROM drives will be available, as well as a small printer for single sheet print out. The speaker room will also have one computer with internet access. All last minute alterations/corrections must be completed at least 1 HOUR before the scheduled beginning of the session in which you will be making your presentation. As a courtesy to your fellow speakers, please limit your viewing time. For any technical questions and concerns you may have with regard to your presentation, please do not hesitate to contact the technical staff in the speaker room, they will be happy to assist you. Please be aware of the service hours of the presentations preparation room, during which IT technicians will be assisting speakers. Speaker Room Opening Hours: Tuesday, 2 September 2008 Wednesday, 3 September 2008 Thursday, 4 September 2008 Friday, 5 September 2008
38
07:30-18:00 07:30-18:00 08:00-15:00 08:00-16:00
EXHIBITION INFORMATION
There will be an industry partners’ exhibition in Pavilion 4 located on the First Floor of the Congress Centre. SSIEM exhibition opening hours Tuesday, 2 September 2008 Wednesday, 3 September 2008 Thursday, 4 September 2008 Friday, 5 September 2008
09:00-18:00 09:00-18:00 09:00-15:00 09:00-16:00
Platinum Sponsors
Stand Number
BioMarin Europe Ltd.
4.05
ComidaMed Institut für Ernährung GmbH
4.17
Merck Serono International SA
4.03
Milupa GmbH
4.11
SHIRE Human Genetic Therapies
4.06
SHS International Ltd.
4.10
Vitaflo International Ltd.
4.07
Gold Sponsors Actelion Pharmaceuticals Ltd.
4.09
Amicus Therapeutics
4.18
Orphan Europe S.A.R.L.
4.12
PreKUlab Ltd.
4.19
Swedish Orphan International AB
4.08
Silver Sponsors
Stand Number
Bruker BioSpin Group
4.16
Chromsystems Instruments&Chemicals GmbH
4.20
Cytonet GmbH & Co.KG
4.14
Genzyme Europe B.V.
4.13
LNS Lactalis Nutrition Santé + Applied Nutrition Corp.
4.01
METAX Institut für Diätik GmbH
4.15
SYKAM GmbH
4.02
Exhibitors
40
Stand Number
Stand Number
Biochrom Ltd.
4.04
Waters S.A.
4.00
EXHIBITION PLAN
41
SSIEM SOCIAL PROGRAMME
Participants will enjoy various opportunities to meet and network with colleagues and friends in an informal environment during the Symposium events.
SSIEM INFORMAL DINNER (EDP Electricity Museum) The EDP Electricity Museum is located by the river within walking distance from the CCL. We invite you to enjoy a relaxing walk along the river to the dinner venue (15 min). We recommend comfortable footwear and a light jacket or ladies pashmina. Transfer coaches will be available at the CCL for delegates requiring transport. Return transfer will be organised from the dinner venue to the Symposium hotels.
SSIEM BANQUET DINNER (Convento do Beato) Transfers Please see below a list of hotels from where SSIEM banquet dinner transfers will be made available. Information on the exact departure times and meeting points will be placed in the lobby of each hotel. Should you have made your own accommodation arrangements, not using one of the listed Symposium hotels, you can choose between the following tranfer departure points: Corinthia Hotel, Sana Lisboa Hotel, Hotel Marquês de Pombal or Hotel Altis. - Corinthia Hotel (pick up point for SANA Malhoa and Açores Lisboa Hotel) - VIP Grand Hotel (pick up point for VIP Berna, VIP Zurich, VIP Barcelona, SANA Executive and SANA Reno) - SANA Lisboa Hotel - Hotel Marquês de Pombal - Dom Pedro Palace - Hotel Altis - Amazónia Hotel - Hotel Villa Galé Ópera The events in the following page are included in the registration fees for full paying Delegates and Accompanying Persons, Students & Residents-in-training. The social programme is also available for Platinum sponsors (3 registrations), Gold Sponsors (2 registrations) and Silver sponsors (1 registration).
42
Tuesday, 2 September Welcome Reception 18:30 - 19:45 Lisboa Congress Centre Enjoy a glass of Portwine and the sounds of the Faculty of Pharmacy Students “Tuna” (theatrical/musical ensamble)
Wednesday, 3 September Informal Dinner – EDP Electricity Museum (19:00 - 22:00) An Enlightened Evening
The Tejo Power Station is one of Lisbon’s architectural landmarks and boasts a façade of undeniable beauty. In its day it was a considerable pioneer in electricity generation. Today, almost a century since it was built, the power station has again taken on innovative projects and established itself as a prominent Electricity Museum. It was re-opened to the public in May 2006, reflecting a more up-to-date concept of a museum, belonging to the EDP Foundation, a private, non-profit-making institution set up by EDP - Energias de Portugal, S.A. in December 2004.
Thursday, 4 September Symposium Banquet Dinner - Convento do Beato (20:00 - 24:00) Fado and Disco Dancing The history of Convento do Beato dates back to the 16th century, when Queen D. Isabel ordered the construction of a hospice for the Blue Friars. The legend tells that, in the 16th century, Friar António set the construction of the monastery in motion with just seven “tostões” (small coins) which he had received in alms. The reputation of this miraculous building increased and people began to refer to the Friar as Beato António (António the Beatified) and his magnificent creation as the Convento do Beato. The Portuguese white marble with veins of red jasper used, gave it not only its very special look but also made it so resistant that it survived the earthquake that destroyed Lisboa in 1755. More recently a metallic structure covered with glass was added to the large cloister creating unique space in the centre of this remarkable 16th century building. 43
EXCURSION DETAILS
Thursday 4 September Afternoon Excursions - 15:00 - 18:00 Lisboa and its closest surroundings offer a large variety of interesting historical and cultural sites as well as spectacular scenic views over the River Tejo and the Atlantic Ocean. - All excursions will depart from the Congress Centre - Excursions will return to the Symposium hotels (not the Congress Centre).
44
A - WALKING TOURS (History & Architecture) 01. BELÉM Depart from the CCL by coach towards Belém. Stop at the Tower of Belém, the Lisboa Landmark and UNESCO world heritage site, for a photograph. From here we will walk (5 minutes) to the modern 1950’s Monument of the Discoveries, built to commemorate the birth date of Prince Henry the Navigator, founder of the Sagres school of navigation in the beginning of the15th century, which played a vital role in the success of the “Portuguese Discovery Voyages” of the 15th and 16th centuries. Cross, under the railway and the road, through the tunnel to reach the gardens in front of the 16th century Jerónimos Monastery, another UNESCO world heritage site. We will visit the Church and the cloisters which remained intact even during the 1755 earthquake. We will continue our walk for a taste of the local speciality “Pastel de Belém” and a visit to the Royal Coach museum, housing one of the best coach collections in the world covering the 16th-19th centuries. The coach will then wait in front of the museum for the return journey to the Symposium hotels, on route we will drive through the centre of town for a panoramic view of the city. 02. BAIRRO ALTO & CHIADO Depart from the CCL by coach towards the centre of Lisboa. Drive along one of the main boulevards – the Avenida da Liberdade, passing the statue of Marquês de Pombal, up to the top of the Edward VII park from where we will have a good panoramic view over the city. Return to the Restauradores Square, for a ride on one of Lisboa’s vintage elevators, still in use today as a means of public transportation. Walk along the pedestrian street - Rua Augusta - towards the river, under the Triumphal Arch to the largest and most beautiful squares of the city – Terreiro do Paço, where coaches will be waiting to take us back to the Symposium hotels. 03. CASTELO SÃO JORGE – THE OLDEST PART OF THE CITY Depart from the CCL by coach along the river towards the Praça do Comercio and the Cathedral where the coach will stop. We will visit the Lisboa Sé (Cathedral) and afterwards we will continue our tour walking to one of the Alfama viewpoints – the Santa Luzia, from where we will enjoy a splendid view of the eastern part of Alfama and the Tejo River. From the view point our walk will take us to the “Castelo St Jorge”, founded in the 10th and 11th centuries, when Lisboa was an important Moorish port. From the ramparts of the castle we will have a view over central Lisbon spread out below our feet. Return walk down hill to board the coaches which are waiting to take us back to the Symposium hotels. 45
B – PANORAMIC TOURS 04. SIGHTSEEING IN LISBOA (by coach) Depart from the CCL by coach in direction of Belém, the monumental part of Lisboa, where the UNESCO world heritage sites of the Belém Tower and the Jerónimos Monastery are to be found. Monuments that remind us of the eras of the overseas voyages and discoveries of new worlds … a brief visit to the area before continuing to the heart of Lisboa, on route we will see the beautiful Basílica of Estrela, arriving at the north-side of the Avenida da Liberdade Boulevard. One of the best viewpoints over the city is situated at the top of the Eduardo VII’s Park, where we will make a stop. The coaches drive down the Avenida da Liberdade to the Rossio Square where we leave the coach for a walk along the main pedestrian street - Rua Augusta - which will take us to the Triumphal Arch opening up to the Terreiro do Paço by the river. The royal palace that stood in this magnificent square was never rebuilt after the earthquake which struck Lisboa in 1755 destroying most of the “down-town” buildings. Coaches will be waiting here for the return transfer to the Symposium hotels.
46
05. TRIP TO CASCAIS (by train) Depart from CCL by coach for a short transfer to the train station of Cais do Sodré, from where the trains leave for Estoril and Cascais – the resorts on the Atlantic coast just 25 min from the centre of Lisboa. Exclusive SSIEM carriages are reserved for the train ride along the river to Cascais where we take a stroll along the beach promenade and in the picturesque pedestrian centre of Cascais - a fishing village that became a fashionable resort in the 19th century, a home to the main European exiled Royal Families. The city centre is still concentrated around the Bay of Cascais where the 2007 sailing world cup took place. Return to Lisboa and the Symposium hotels by coach.
06. LISBOA SEEN FROM THE RIVER (by boat) Depart from CCL by coach for a short transfer to the pier where the modern yacht “Lisboa Vista do Tejo” which in translation means “Lisboa seen from the Tejo River”. Experience a two hours boat trip on the calm waters of the river enjoying a view over the riverside monuments of the city which always opens a window towards the river with a back drop of the hills where the typical old Lisboa quarters are still to be found. Refreshments will be served on board, on outside deck and in salon with panorama windows. Return transfers to the Symposium hotels by coach.
C – THEMATIC VISITS 07. NATIONAL MUSEUM of AZULEJOS (painted glazed tiles) Depart from the CCL by coach, driving along the river for an introduction to an ancient art still visible on many Lisboa house façades. Azulejo – the word most likely has its origin in the Arabic word for al-zulej = small stone, as the original square ceramic tiles were made of many small stones bound together to form a square tile. The art was developed by the Moors living in what today is Andaluzia, in southern Spain and later on, in the 15th century, spread to the Portuguese artisans who further developed the various techniques of producing, painting and glazing the tiles. The Tiles National Museum is housed in one of Lisboa’s many old convents, the building in itself is of great interest and presents the history and the evolution of the art during centuries up until the modern design and industrial production methods of today. Coaches will take us along the city centre returning to the Symposium hotels.
47
08. GULBENKIAN ART MUSEUM Depart from CCL by coach along the river for a panoramic view of the city centre. On route the coach will drive through the principal squares such as Terreiro do Paço and Rossio to reach the Avenida da Liberdade. At the upper end of the Avenue, Marquês de Pombal, the 18th century prime Minister, watches over the city from his privileged viewpoint. Another most important Lisboa personality was Calouste Gulbenkian, a wealthy 20th century oil magnate who left his invaluable private art collection to the city of Lisboa. This is a particularly beautiful collection thanks to the eclectic taste of the collector and the exquisite value of its exhibits, including Egyptian art, Chinese porcelain, Islamic carpets, European paintings dating from the Middle Ages to early 20th century and decorative art. Return to Symposium hotels by coaches.
09. PARQUE DAS NAÇÕES AND LISBOA OCEANARIUM Depart from CCL by coach along the river, on route through the biggest square Terreiro do Paço and along the harbour until reaching the eastern part of Lisboa – the new city within the city ! What commonly still is called “the Expo” is an example of recovery of a wasted area where for many years dated military equipment was stored, in a prime location along the river. This was the area chosen to house the installations of the 1998 World Exhibition, which have been put to great use following the Expo. We will enter the area at the base of the Vasco da Gama tower overlooking the river and the bridge with the same name. We can use the cable cars as transport and to get a better overview of the area and its many modern award–winning design buildings. The cable car will take us to one of these buildings the Oceanário, built by the American architect Chermanyeff, for a visit to the wonderful oceanic underwater world. We will also be able to take a walk amongst the various installations that made up the theme of the EXPO 98’ – the Oceans. Return to the coach for transfer to the Symposium hotels.
10. LISBOA VINEYARDS ON THE SOUTH BANK OF THE RIVER Depart from CCL by coach crossing the Tejo River through the 25th of April bridge build in the 1960’s by the US Steel Company, a “sister bridge” to the Golden Gate Bridge in San Francisco. Just across the bridge on the Palmela Peninsula we find the closest vineyards to Lisboa, famous for its fortified dessert wine “Moscatel” as well as the table wines produced in the area. We will pay a visit to one of the modern Wine cellars for a guided tour and a tasting. Return to Lisboa and the Symposium hotels this time crossing the Tejo River via the Vasco da Gama Bridge, built for the world exhibition held in Lisboa in 1998, at the time of its construction this was the longest bridge in Europe. Return to Lisboa and the Symposium hotels by coach.
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ACCOMPANYING PERSON PROGRAMME
Tuesday 2 September - 10:00-17:00
Photo Antonio Sacchetti
01. Sintra – UNESCO Heritage Site Village Full day excursion to the romantic village of Sintra and Cabo da Roca (including lunch)
River.
We will depart from Lisboa by coach along the motorway to the beautiful town of Sintra, at the foot of the mountain range of the same name. Its unique characteristics have led UNESCO to classify it as a World heritage site, taking into account the natural riches as well as the historic buildings in the town and mountains. The luxuriant vegetation surrounds royal palaces, private mansions and romantic hide-away villas. We will visit one of the royal palaces, enjoy some free time to stroll around the narrow lanes and have lunch in royal surroundings. The westernmost point of the European mainland is Cabo da Roca. This is where the mountain ridge dives abruptly into the Atlantic Ocean forming the cliff of Cabo da Roca. This viewpoint offers a 360 º breathtaking view over the Atlantic Ocean. From here we will return to Lisboa along the scenic road by the Tejo Price per person (incl VAT and lunch): 98 €
02. Medieval Óbidos and Caldas da Rainha - CANCELLED * Full day excursion to the walled Obidos village and the Thermal Spings of Caldas da Rainha (including lunch) We will depart from Lisboa along the motorway towards the enchanting town of Óbidos filled with whitewashed houses and surrounded by a 14th-century city wall. Once a coastal town, the lagoon has silted-up over the centuries and Obidos now rests six kilometres from the sea. The City of Caldas da Rainha owes its name to the thermal spring much loved by the Portuguese Queen D. Leonor. Having benefited from the healing properties of waters already revered by the local population, the Queen ordered a hospital to be built in 1485, making it the oldest thermal hospital in the world. The thermal waters continue to be much sought after in our days but Caldas da Rainha is also famous for its ceramics, an industry internationally renowned for its figurative and satirical works
* Due to lack of participants
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Wednesday 3 September - 10:00-17:00
Photo Antonio Sacchetti
03. UNESCO world heritage sites; Batalha and Alcobaça – two gothic masterpieces. Full day excursion to the Architectural masterpieces of Batalha and Alcobaça (including lunch) We will depart from Lisboa by coach following the motorway towards the town of Batalha. This settlement grew alongside the Monastery of Santa Maria de Vitória, built in 1386. The Portuguese King Dom João I, kept his vow to the Virgin Mary that he would build a magnificent church if Portugal defeated Castile at the Battle of Aljubarrota on 14th August 1385. We will visit this masterpiece of Portuguese Gothic, a magnificent piece of architecture that combines various influences from its lengthy period of construction, which lasted several reigns, and is still incomplete today.
Listed by UNESCO as a World Heritage site, in 1989, Alcobaça is one of the most impressive Cistercian monasteries in Europe. Although built almost 900 years ago (construction started in 1178) , the mediaeval buildings are still preserved and the church is the largest primitive Gothic church in Portugal. The Monastery owned a vast area of land in the valley of the rivers Alcoa and Baça, where the Cistercian Order organised villages and estates, boosting agriculture development by introducing new techniques and agricultural products. This region is still today one of Portugal´s main fruit producers. We will visit the mediaeval buildings, including the refectory, dormitory and chapter house as well as the magnificent kitchen. Price per person (incl VAT and lunch): 120 € 04. Convento de Mafra and Ericeira Fishing Village Full day excursion to the Convento de Mafra and the Fishing village of Ericeria (including lunch)
Photo Jose Manuel
We will depart from Lisboa by coach for a short drive through the countryside to Mafra village, famous for its gigantic Palace-Convent, Portugal’s largest building, built in the 18th century by order of King Dom João V. When, after three years of marriage, the King and Queen still had no children, he promised the Franciscan friars that he would build a convent in the Mafra area, if his prayers for an heir to the throne would be answered. When his daughter, Dona Maria Pia, was born, he began what was initially a quite modest convent. However, when the German architect Ludwig was hired, the plan was considerable enlarged to a grandiose monument, including a convent for 300 friars, a basilica and a 666-room royal palace. The constructions where 50
accomplished in record time, from 1717 to 1730. Ericeira is a traditional fishing village, that has seen an increasing development during the 20th century due to the growing interest in it as a summer resort. It has, however, maintained its original characteristics and its own individual atmosphere. Its beaches are considered among the best in Europe for surfing, and where one of the World Surfing Championship contests is held every year. At lunch time we will take the opportunity to sample the locally confect fish dishes, the speciality of the regional cuisine before returning to Lisboa. Price per person (incl VAT and lunch): 100 € 05. Évora - The Royal City - CANCELLED* Full day excursion to Évora (including lunch) We will depart from Lisboa by coach crossing the Tejo River via the Vasco da Gama bridge, inaugurated in 1998 in time for the World Exhibition. The motorway will take us through the undulating landscape of Alentejo directly to the city of Évora that retains the splendour of a royal city. Alentejo is the centre of the country’s cork and marble production and is also famous for its wine, considered as one of the best regions for red wine production. A world of unexpected contrasts awaits us in this city with a history more than two thousand years old. The Romans created an elegant temple, battlements and baths, and the Moorish influenced the urban planning. Conquered by the Christians in the 12th century the city captured the imagination of the kings of Portugal and several of them established their courts here. There are several convents and the one of São Francisco has one of the finest churches in Portugal. Due to its historical significance, UNESCO has classified Évora as a World Heritage site. A walking tour will take us to the most important cultural treasures. We will enjoy lunch in a local restaurant and visit one of the wine producers in the region before returning to Lisboa. * Due to lack of participants
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Friday 5 September - 10:00-13:00 06. Half day Lisboa city tour - CANCELLED* This half day tour will start with a visit to the riverside BELÉM quarter, where the famous monuments related to the Portuguese Discoveries are located, such as the Lisbon landmark, the Belém Tower, the modern Monument to the Discoveries and the magnificent 16th century Jerónimos Monastery. We will start our visit at the Belém Tower and walk to the Jerónimos Monastery. Before the visit to the National Coach Museum we will enjoy a taste of the famous “Pasteis de Belém” – a special pastry filled with vanilla cream. The Coach Museum is housed in the former riding school of the Belém royal palace and contains a unique collection of royal coaches, from the 17th to 19th centuries used by the Portuguese other European courts and noble houses until the introduction of the motor car. The Spanish King Philip II’s travelling coach and three monumental coaches sent by Portugal to Pope Clement XI in Rome (1716), are some of the most spectacular pieces in this incomparable collection. Our coach will be waiting outside the museum for the return transfer to the hotels. * Due to lack of participants
07. Half day Excursion to Estoril & Cascais Departure by coach from Lisboa towards Cascais, situated about 25 km from the city centre, by the Atlantic. This traditional fishing village was an important passage point for boats on their way into Lisboa since the 14th century. In the second half of the 19th century, when sea bathing became a popular activity, Cascais was transformed into a very fashionable summer resort. The main reason for this transformation being the king of Portugal, Dom Luís I, who, in 1870, converted the Fortaleza da Cidadela into his summer residence. The king’s example was immediately copied by the nobility, who built palaces and villas that completely transformed the appearance of the former fishing village. Nowadays, Cascais is a very lively and cosmopolitan town that still preserves a great deal of its earlier aristocratic atmosphere. High quality shops and many outdoor cafés and restaurants are to be found in the pedestrian centre of the town, were we will enjoy some free time. A walk along the beach promenade that connects Cascais and Estoril is also on the programme, before returning to Lisboa via the scenic road, which runs Price per person (incl VAT): 42 € alongside the Tejo River.
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SYMPOSIUM POST TOURS
The SSIEM Post Tours are cancelled as the minimum number of participants necessary was not reached.
Porto and the Douro Valley Friday, 5 - Sunday, 7 September A visit to the birthplace of the Nation and the region of the famous Port wine. Visit on foot to the historical centre of Port, an UNESCO heritage site and a visit to the valley where the vintage port wines vineyards grow. After lunch on Sunday departure for Porto International Airport.
The unknown treasures of the Alentejo Region Friday, 5 - Sunday, 7 September Just across the Tejo River lies the vast Alentejo region with its characteristic landscape of cork trees and walled historical towns on top of hills. This is a region much appreciated for its gastronomy and wine production. After lunch on Sunday departure for Lisboa International Airport.
Estoril Coast with Golf Saturday, 6 – Sunday, 7 September SSIEM Golf tournament will be held on Saturday on one of the championship golf courses located on the Estoril Coast in the close surroundings of Lisboa. After the tournament time to relax, followed by Dinner and “Prize Award Ceremony”. Freetime on Sunday morning before individual departures from the Lisboa International Airport.
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IMPORTANT SYMPOSIUM INFORMATION
- Abstract Book The selection of accepted abstracts is published in an Abstract Book, a supplement to the Journal of Inherited Metabolic Disease. All registered participants (SSIEM members, Non-Members, Students, Residents-in-Training and Single Day Ticket holders) will receive one (01) copy of the Abstract Book in their conference bag.
- Accessibility for Wheelchairs Lisboa Congress Centre - Wheelchair adapted toilets are located in Pavilion 3 (Ground Floor), next to Auditorium II, in Pavillion 5 and Pavilion 4 (First Floor. Elevators are located to the left in the Main Lobby and to the right after the Registration Desks (Ground Floor) Social Programme - Both SSIEM Symposium dinner venues are of easy access for wheelchair users.
- Cloakroom Coats, luggage etc may be left in the Cloakroom, located in front of the Registration area in the Main Lobby (Ground Floor). The organisers do not accept any liability for any loss or damage to property.
- Coffee Breaks Coffee breaks will be served free of charge for all delegates and exhibitors wearing a valid Name Badge. There are several coffee stations located in the Poster Exhibition Halls, Exhibition Area and Lobby Areas. COFFEE BREAK TIMETABLE: Tuesday, 2 September 2008 Wednesday, 3 September 2008 Thursday, 4 September 2008 Friday, 5 September 2008
10:30-11:00 / 16:00-16:30 10:30-11:00 / 15:30-16:00 10:00-10:30 10:35-11:05
- Exhibition The SSIEM exhibition will take place in Hall 4, located on the First Floor of the Congress Centre. Please see the exhibition plan on page.41 and a complete sponsor/exhibitor list on page 61. SSIEM SYMPOSIUM EXHIBITION OPENING HOURS Tuesday, 2 September 2008 09:00-18:00 Wednesday, 3 September 2008 09:00-18:00 Thursday, 4 September 2008 09:00-15:00 Friday, 5 September 2008 09:00-16:00 54
- Internet café Participants will have opportunity to access and print personal e-mails at the internet café located in Pavilion 5 (First Floor). In this area participants carrying their own laptops will also have wi-fi access free of charge. The Internet Café opening hours will be the same as for the SSIEM Symposium Exhibition.
- Lunch breaks All registered delegates and Exhibitors holding a valid lunch bag ticket will receive one lunch bag free of charge during the official lunch breaks. LUNCH BREAK HOURS: Tuesday, 2 September 2008 Wednesday, 3 September 2008 Thursday, 4 September 2008 Friday, 5 September 2008
12:40-14:00 12:30-14:00 12:00-13:00 13:00-14:00
There are several lunch bag stations located in the Poster Exhibition Pavilions, Exhibition Area and Lobby Areas.
- Meeting Point / Messages The official Meeting Point is located in the Main Lobby opposite the registration area (Ground Floor). This is where phone/e-mail messages received at the symposium secretariat will be posted. Announcements for participants and exhibitors via the public address system are not possible.
- Name Badge All officially registered participants and sponsors/exhibitors wearing their official SSIEM2008 name badge will be admitted at the Lisboa Congress Centre during the SSIEM Symposium. Only officially registered participants (SSIEM members, Non-Members, Students, Residents-in-Training and Single Day Ticket holders) wearing the official SSIEM name badge will be admitted to the scientific sessions held in Auditorium I, II, III & IV and in Room 5A & B from 2 to 5 September. - Single Day Ticket Single Day Ticket holders will only be admitted to the scientific sessions, poster exhibition and the SSIEM exhibition on the day of the ticket. The Single Day Ticket does not include the SSIEM social programme. - Accompanying Persons Accompanying persons do not have access to the scientific sessions, poster exhibition or the SSIEM exhibition, however the SSIEM social programme, including the excursions on Thursday afternoon, are included. Please, wear your name badge visible at all times in order to obtain admittance to the above mentioned areas and functions at the Congress Centre. 55
- Parking The Lisboa Congres Centre has two car parks. Cost â‚Ź1.50 per Hour or â‚Ź12.40 per Day (Congress parking ticket). Please contact the congress centre reception (security staff) in order to obtain/pay the special congress parking ticket, as the P-automats do not provide this kind of P-ticket.
- Participants List All officially registered participants (SSIEM members, Non-Members, Students, Residents-in-Training and Single Day Ticket holders) will receive a participants list in their conference bag.
- Smoking Lisboa Congress Centre is a non-smoking area. Outdoor ashtrays are available under the canopy, immediately outside the main entrance of the congress centre. The Portuguese law, in accordance with Regulations in force in the majority of European Countries and the USA, does not allow smoking in any public transportation or in any closed public areas.
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- Symposium Transfers / SSIEM Banquet Dinner Transfer Pick up point at the Congress Centre: In front of the main entrance Pick up points for the Symposium Transfers are located at the following Symposium hotels: - Corinthia Hotel (pick up point for SANA Malhoa and Açores Lisboa Hotel) - VIP Grand Hotel (pick up point for VIP Berna, VIP Zurich, VIP Barcelona, SANA Executive and SANA Reno) - SANA Lisboa Hotel - Hotel Marquês de Pombal - Dom Pedro Palace - Hotel Altis - Amazónia Hotel -Hotel Villa Galé Ópera (For Symposium Banquet Dinner only) (This hotel is located within walking distance to the Lisboa Congress Centre.) For the specific location of the pick up point, please see information placed in the lobby of each hotel.
- SSIEM Tours & Hotels For information on the SSIEM Tours on Thursday Afternoon, Accompanying Person Programme or General Tourist Information, please contact the SSIEM Symposium Tour desk located in front of the Registration area in the Main Lobby (Ground Floor).
- TAXI There is a taxi station situated on the road in front of the Lisboa Congress Centre. Disclaimer The Local Organising Committee, the Congress Organisation and the Lisboa Congress Centre accept no liability for personal injuries or loss, of any nature whatsoever, or for loss or damage to property either during or as a result of the symposium.
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LISBOA GENERAL INFORMATION
- Accessibility Lisboa Airport (Portela) is located close to the city centre (7 km), about 15-20 minutes transfer to most of the centrally located hotels as well as to the Lisboa Congress Centre. The Airport is served by daily direct flights operated by the traditional air lines as well as by many of the low cost companies operating in Europe. *) Lisboa Airport is not connected to the Underground System (Metro). However, there is an Airport shuttle bus (AeroBus) with several stops in the city centre. (last stop: Cais do Sodré)
Public Transportation The joint fleet of the two public transportation companies Carris (buses and trams) and Metro (underground) covers the entire city with regular bus and tram routes as well as underground lines. Taxis The city is served by 3,500 taxis, and a taxi ride from the airport to the city centre should cost between € 8 and € 15. The usual urban taxi fares are: Day: 2.00 € + 0.40 €/km Telephone booking: 0.80 € Night, weekend and holidays: 2.50 € + 0.48 €/km Taxis are widely used by the locals, and in comparison to the taxi fares in other countries, the Lisboa taxis are still to be considered a rather inexpensive means of transportation.
- Climate The average maximum daily temperature and average minimum temperature in the Lisboa area in September are 25ºC / 77 F (high) and 18ºC / 64 F (low). Please take in consideration that Lisboa is located by the river and the ocean, and therefore can be windy in the late afternoon or evening. A sweater or a ladies pashmina may be necessary.
- Currency Portugal is a member of the European Monetary System, and the previous currency Escudo was replaced by the €uro on 1 January 2002.
- Electric Current Portuguese standard is the European type 2 pin sockets with 220 volts AC at 50 cycles. The phase 380 volt current is normally available in meeting rooms and exhibition halls.
- Exchange Major credit cards are accepted in most hotels, shops and restaurants. Travellers’ cheques and currency can be changed at exchange bureaux or at hotel receptions. Automatic changing and cash dispensing machines linked to international networks are also widely available. 59
- Health Requirements With the exception of vaccination certificates for persons coming from areas where yellow fever is endemic, at the present there are no special health requirements.
- Hotel Check in/out Policy Normal check in time at hotels is 15h00. The established check out time is 12h00. Should you need guaranteed occupancy before 13h00 on the day of your arrival, the previous night should be reserved.
- Medical Care Clinics and hospitals provide 24 hrs emergency service. The national emergency phone number is 112. Hotels have a doctor on call through the reception. Reciprocal E.C. cover is available at out-patient departments, otherwise private consultation fees are charged.
- Sales Tax Sales tax (VAT) is included in prices quoted. For non E.U. residents, tax free shopping schemes are available in many shops, which give substantial savings to visitors.
- Shopping Fine leather goods, lead crystal ware, porcelain, vintage wines, golden and silver filigree, pottery and textiles are considered excellent buys in Portugal. The pedestrian streets of the city centre, “a Baixa”, bordered by the magnificent Praça do Comércio, facing the River Tejo, and the “Chiado” area leading to Bairro Alto, are popular shopping areas. Shops are open from 09h00 to 13h00 and 15h00 to 19h00 Monday to Friday, and 09h00 to 13h00 on Saturdays. Major shopping malls stay open from 10h00 to 23h00, including weekends. The main shopping centres are Colombo, Amoreiras, Vasco da Gama and the Atrium Saldanha, all within easy access by underground network (metro).
- Smoking The Portuguese law, in accordance with Regulations in force in the majority of European Countries and the USA, does not allow smoking in any public transportation or in any closed public areas. (Some restaurants, bars and discotecs may have a designated smoking area).
- Tipping Tipping is optional, but adding 10% to the amount is regular practise in taxis, restaurants and bars.
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SPONSOR LIST
The Organising Committee gratefully acknowledges the support of the following organisations and sponsors
Organisations Fundação EDP – Electricity Museum FLAD - Fundação Luso-Americana
Platinum Sponsors BioMarin Europe Ltd.
ComidaMed Institut für Ernährung GmbH
Faculdade de Farmácia Universidade de Lisboa
Gold Sponsors Actelion Pharmaceuticals Ltd. Amicus Therapeutics Orphan Europe S.A.R.L. PreKUlab Ltd.
Merck Serono International SA
Milupa GmbH
Swedish Orphan International AB
Silver Sponsors
SHIRE Human Genetic Therapies
Bruker BioSpin Group
SHS International Ltd.
Chromsystems Instruments&Chemicals GmbH Cytonet GmbH & Co.KG
Vitaflo International Ltd. Genzyme Europe B.V.
Exhibitors Biochrom Ltd. Waters S.A.
Additional Sponsorship
LNS Lactalis Nutrition Santé + Applied Nutrition Corp.
METAX Institut für Diätik GmbH SYKAM GmbH
Milupa GmbH 61
LOCAL TRANSPORTATION INFORMATION AND CITY MAP
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FOR YOUR NOTES
FOR YOUR NOTES PLEASE FIND BELOW OUR SUGGESTIONS HOW TO REACH THE LISBOA CONGRESS CENTRE (CCL) BY PUBLIC TRANSPORT. From the Airport: - By Taxi: For more information see page 59. - By Airport bus: Contact the Airport Information Desk for information on the exact location of the AERO BUS stop outside the arrival hall. Get off at the last stop of the AERO BUS - Estação do Cais do Sodré (Commuter Train Station). From here take the Bus or Tramway to the CCL (see information below and on page 8). From the Hotels: - By Underground (Metro): Please consult the Metro Map on page 63. Take the metro until the end station of the GREEN LINE – Cais do Sodré. When leaving the Metro station you will see the Bus / Tram stops. Take bus 732 (direction: Caselas) or bus 714 (direction: Outurela) or Tram E15 (direction: Algés). Get out at stop: Rua da Junqueira/ Congress Centre (8 stops after Cais do Sodré). This stop is located at the back of the Congress Centre. Our suggestion for purchasing the Metro/Bus/Tram tickets: At the Metro Stations look for the ticket machines. Touch the screen and choose the option “zapping”. Next choose one of the options on offer. The first time buying a ticket you will receive a re-chargeable card (€ 0,50) and the remaining amount will be credit to your ticket according to the option you have chosen. Please keep your card. N.B.: Following the above option a one way Metro trip costs € 0,79 and a one way bus/tram trip € 1,10. To update your credit: first introduce the card in the slot of the ticket machine, select “zapping” and increase your credit as necessary. The machines accept coins (€), notes (€) or credit cards. Good Luck! Enjoy the trip and please look after for your personal belongings at all times.
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SYMPOSIUM VENUE 1. Lisboa Congress Centre
HOTELS 2. Corinthia Lisboa Hotel 3. Dom Pedro Palace 4. Vila Galé Opera 5. VIP Grand Lisboa 6. Hotel Altis 7. SANA Lisboa 8. Hotel Marques de Pombal 9. SANA Malhoa 10. SANA Reno 11. Hotel Açores Lisboa 12. VIP Barcelona 13. Amazónia Lisboa 14. SANA Executive 15. VIP Zurich 16. VIP Berna 17. Luis De Camões Students Residence
LISBOA CITY MAP
use of Lisboa map offered by Turismo de Lisboa – www.visitlisboa.com
SYMPOSIUM DATES: 2 to 5 SEPTEMBER 2008
www.ssiem2008.com