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Programme & Invited Speakers
Thursday evening JUNE 18:
18.00 - 20.00 Welcome drinks, Hortus Botanicus Amsterdam in historical perspective: Martin Ribbens
SCIENTIFIC PROGRAM JUNE 19, FRIDAY
8.30 – 9.00 Welcome and registration with coffee
9.00 – 9.15 Introduction
Genetics & Phenotypic variation
Moderator: Akiko Shimamura
9.15 - 10.00 Johanna Rommens, PhD; Program in Genetics & Genome Biology,
Research Institute, The Hospital for Sick Children, Toronto, Canada
Shwachman Diamond Syndrome, state of the art
10.00 – 10.30 Heather Ball, PhD; Program in Genetics & Genome Biology,
Research Institute, The Hospital for Sick Children, Toronto, Canada
Rescue of Shwachman-Diamond mouse model phenotypes with loss of TP53
Elena Nicolis, PhD; Lab of Clin Chemistry and Haematology,
University Hospital, Verona, Italy
SBDS mRNA expression
10.30 - 11.00 Leslie Steele, MSc; Dept of Ped Lab Medicine,
The Hospital for Sick Children, Toronto, Canada
De novo mutations in the SBDS gene causing Shwachman-Diamond
Syndrome
Nikolaus Trede MD, PhD; Dept of Pediatrics, University of Utah, Utah,
USA
11.00 – 11.30 Coffee break
Moderator: Alan Warren
11.30 - 12.00 Ivo Touw, PhD; Lab of Hematopoiesis and Transplantation
Erasmus Medical Center, Rotterdam, Netherlands
Genetic variation in AML and MDS
12.00 - 12.30 Hanming Wang, MSc; Program in Cell Biology, Research Institute, The
Hospital for Sick Children, Toronto, Canada
SBDS-loss results in overexpression of Fas transcript 1 and accumulation of Fas at plasma membrane
Jean Donadieu, MD, PhD; AP-HP Hôpital Trousseau, Paris, France
Risk factors for aplastic anemia and leukemia/myelodysplasia in
Shwachman Diamond syndrome (French-German Severe Chronic Neutropenia Registry)
12.30 – 13.30 Lunch
SBDS function
Moderator: Johanna Rommens
13.30 - 14.00 Alan Warren, PhD; MRC Laboratory of Molecular Biology, Cambridge, UK
SBDS and associated proteins
14.00 - 14.30 Claudia Orelio, PhD; Sanquin Research & Emma Children’s Hospital,
Academic Medical Center (AMC), Amsterdam, The Netherlands
Cellular localization and mobility of SBDS proteins
14.30 - 15.00 Christine Hilcenko, PhD; MRC Lab of Molecular Biology, Cambridge, UK
Quasi-independent motion of the human SBDS FYSH domain revealed by
NMR spectroscopy
Rastislav Horos, MSc; Dept of Hematology,
Erasmus Medical Center, Rotterdam, The Netherlands
mRNA translation control in erythoid cells deficient for SBDS and RPS 19
15.00 – 15.30 Tea break
Moderator: Peter Durie
15.30 - 16.00 Sanna Toiviainen-Salo MD, PhD; Medical Imaging Center, Helsinki
University Hospital, Helsinki, Finland
MRI of the brain and the pancreas
16.00 - 16.30 A parent’s view, a patient’s view
Liesbeth Siderius, pediatrician, the Netherlands
Comprehensive multidisciplinary care for identified SDS individuals
16.30 – 17.00 Guidelines for SDS diagnosis: Johnson Liu (chair)
17.00 - 18.00 posterview
Evening Program
18.00 Meet at the Tigerroom for the boat trip and dinner
18.10 − 20.00 Boat tour through Amsterdam & drinks
20.00 Dinner at the Wilhelminadok *
* Address: Wilhelminadok
Noordwal 1
1021 PX Amsterdam
tel: 020 - 6323701
SCIENTIFIC PROGRAM JUNE 20, SATURDAY
Gastrointestinal issues & growth
08.30 – 09.00 Welcome with coffee
Moderator: Marco Cipoli
09.00 - 09.30 Peter Durie MD, FRCP(C); Dept of Pediatrics, Div of Gastroenterology
and Nutrition, The Hospital for Sick Children, Toronto, Canada
What did we learn from CF about pancreas failure?
09.30 – 10.00 J. Koeglmeier, SEM, MD, MRCPCH, MMedSc; Dept of Paediatric
Gastroenterologist, Chelsea and Westminster Hospital, London.
Gastrointestinal problems in Shwachman Diamond syndrome
10.00 - 10.30 Marie Helfrich, PhD; Bone and Musculoskeletal Research Programme,
University of Aberdeen, School of Medicine and Dentistry, Aberdeen, UK
Bone metabolism and diseases of osteoclast dysfunction
10.30 - 11.00 Arif Manji, MD; Cell Biology Program, Div of Hematology/Oncology,
Research Institute, The Hospital for Sick Children, Toronto, Canada.
Solid tumor in Shwachman-Diamond syndrome: report from the
Canadian inherited marrow failure registry
Marina Tourlakis, MSc; Program in Genetics & Genome Biology
Research Institute, The Hospital for Sick Children, Toronto, Canada
Understanding pancreatic dysfunction in Shwachman-Diamond
Syndrome using mouse models
11.00 – 11.30 Coffee break
Behavioral
Moderator: Elisabeth Kerr
11.30 - 11.45 Jan Booij, MD, PhD; Dept of Nuclear Medicine,
Academic Medical Center (AMC), Amsterdam, NL
Nuclear medicine for insight in behavioural function?
11.45 – 12.15 Elizabeth Kerr, PhD. CPsych; The Hospital for Sick Children, Toronto,
Canada
A developmental perspective on challenges of SDS from childhood to young adult
Sandra Perobelli; Cystic Fibrosis Center, Azienda Ospedaliera, Verona,
Italy
Neuropsychological profile of SDS: unanswered questions
12.15 – 13.30 Posterwalk and Lunch
Hematological issues
Moderator: Taco Kuijpers
13.30 - 14.15 Hans Joenje, PhD; Dept of Cytogenetics, Free University, Amsterdam, NL
Chromosomal instability: facts and features
14.15 – 15.00 Christopher Allen, BSc; Marrow Failure & Myelodysplasia Program,
Div of Hematology/Oncology & Cell Biology Program, Research Institute,
The Hospital for Sick Children, Toronto, Canada
Comparative analysis of Shwachman-Diamond Syndrome (SDS) patients
with or without SBDS mutation
Gulay Sezgin MD, PhD; Dept of Pediatrics, Schneider Children’s hospital,
New Hyde Park, New York, USA
SBDS depletion in hematopoietic TF-1 cells impairs growth, colony
formation and ribosome function
Saswati Sen MSc; Program in Cell Biology, Research Institute, The
Hospital for Sick Children, Toronto, Canada
Mechanisms of erythopoietic failure caused by loss of inherited aplastic
anemia-related gene, SBDS
15.00 – 15.30 Tea break
Moderator: Johnson Liu
15.30 - 16.00 Robbert Bredius, MD, PhD; Dept of Pediatric Immunology and Infectious
Diseases, Leiden University Medical Center, Leiden, The Netherlands
Hematopoietic Stem Cell therapy in SDS
16.00 - 16.30 Akiko Shimamura, MD, PhD; Fred Hutchinson Cancer Research Center,
University of Washington, Seattle, USA
Mitotic abnormalities in Shwachman-Diamond syndrome.
16.30 - 17.00 Registry on SDS: how national and international issues meet: Peter Durie
18.00 Closing news and farewell
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