10th International SDS Congress - 2023
Please find the programme and other details for the SDS Congress in the drop-down menus below.
Abstracts have been emailed to attendees separately.
Email us at events@stemcells.cam.ac.uk with any questions.
Find a pdf of the programme here, or scroll down for the programme summary.
Programme as of 4 April
- Subject to change
- All sessions will include time for questions and discussions.
- All posters are to be on display from April 18th Tuesday noon to April 21st, Friday 10:45am.
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DAY ONE: TUESDAY 18 APRIL |
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Session 1: Joint Foundation Group/Science Sessions Clinical and research advances for SDS
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12:00 |
Family session Akiko Shimamura Alan Warren Julia Hawkins
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Hosted by SDS UK
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12:00 |
Welcome & Introduction Alan Warren |
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10 mins |
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12:10 |
Welcome to Family Session Julia Hawkins |
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10 mins |
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12:20 |
Introductions from families |
Supporting Foundation objectives and immediate clinical/research priorities |
25 mins |
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12:45 |
Introduction to SDS Research & Q&A Alan Warren |
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30 mins |
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13:15 |
Introduction to SDS Research & Q&A Akiko Shimamura |
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30 mins |
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13:45 |
Discussion - where can we best work together? |
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15 mins |
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14:00 |
Break and refreshments |
30 mins |
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Session 2: Future, Ongoing, Present, and Past
Chaired by Alan Warren
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14:30 |
Alan Warren University of Cambridge |
Welcome & Introduction |
10 mins |
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14:40 |
Johanna Rommens Hospital for Sick Kids |
Peter Durie Lecture Shwachman-Diamond Syndrome: Looking Back, and on toward the future
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35 mins |
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15:15 |
Alex Faille University of Cambridge
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SBDS: Under the microscope |
25 mins |
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15:40 |
Peter Campbell Wellcome Sanger Institute |
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40 mins |
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16:20 |
Simone Cesaro Verona University Hospital |
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30 mins |
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Session 3: Reception & Poster Session: Patients, patient cohorts, and registries
Led by Adrianna Vlachos and Yves Pastore
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17:00 |
Drinks and canapes reception and poster session including registry posters and poster walk
Posters:
*Also presenting an oral presentation
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90 mins |
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18:30 |
Dinner Available at Robinson College or free to explore the town |
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DAY TWO: WEDNESDAY 19 APRIL |
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Session 4: Ribosomes: Structure and biogenesis
Chaired by Alan Warren & Victoria Cowling
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08:30 |
Introduction to session |
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5 mins |
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08:35 |
Sebastian Klinge Rockefeller University |
Principles of human pre-60S biogenesis |
25 mins |
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09:00 |
Vas Kargas University of Cambridge |
Regulating GTP hydrolysis during late cytoplasmic ribosome assembly |
20 mins |
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09:20 |
Vikram Panse University of Zurich |
Resolving a nuclear-mitochondrial targeting conflict during ribosome assembly |
20 mins |
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09:40 |
Ron Kopito Stanford University |
Ribosome UFMylation promotes 60S recycling and rescue from the endoplasmic reticulum |
20 mins |
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10:00 |
Victoria Cowling Beatson Institute for Cancer Research, Glasgow |
Ribosome production in T cells is co-ordinated by the RNA cap methyltransferase RNMT |
20 mins |
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10:20 |
Break and refreshments |
30 mins |
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Session 5: Ribosome failures: Cell and organ consequences
Chaired by Alison Bertuch & Denis Lafontaine
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10:50 |
Introduction to session |
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10:55 |
Pierre-Emmanuel Gleizes Centre de Biologie Integrative, Toulouse |
3’ uridylation monitors exonucleolytic maturation of the 18S ribosomal RNA in the cytoplasm |
15 mins |
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11:10 |
Wei Tong Children’s Hospital of Pennsylvania |
Regulation of Ribosome Assembly and Protein Synthesis during Hematopoietic Stem Cell Regeneration |
15 mins |
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11:25 |
Denis Lafontaine Universite libre de Bruxelles |
Mutations in the SSU-processome component C1orf131 cause ribosome biogenesis dysfunction leading to primary microcephaly |
15 mins |
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11:40 |
Timothy Olson Children’s Hospital of Philadelphia |
SBDS Deficiency in Bone Marrow Niches Impairs Donor Engraftment after Myeloablative Transplantation |
15 mins |
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11:55 |
Marc Raaijmakers Erasmus University |
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15 mins |
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12:10 |
Kim de Keersmaecker KU Leuven |
Translatome analysis of somatic ribosomal protein mutations |
15 mins |
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12:25 |
Break |
15 mins |
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Session 6: Lunch and Poster session: Ribosomes, function and model systems
Led by Pierre-Emmanuel Gleizes and Ron Kopito
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12:45 |
Lunch buffet provided during poster session
Posters:
A Bertrand C Boni C Hilcenko A Lagos Monzon A Mercuri S Corey A Photi-A* G Sabbioni N Sánchez Puig D Siliqi R Valli K Watanabe
*Also presenting an oral presentation
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14:30 |
Break |
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Session 7: SDS Phenotypes and natural history
Chaired by Johanna Rommens & Elizabeth Kerr
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14:45 |
Johanna Rommens, Alan Warren |
Intro to Session |
5 mins |
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14:50 |
Elizabeth Kerr The Hospital for Sick Kids |
SDS: A Neurodevelopmental Disorder |
20 mins |
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15:10 |
Selected Abstract Jane Koo |
Neurocognitive outcomes in patients with Shwachman-Diamond Syndrome: a report from the Shwachman-Diamond Syndrome Registry and Study |
10 mins |
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15:20 |
Kezia Kite Great Ormond Street Hospital |
Growth and supplementation in children with Shwachman-Diamond Syndrome |
20 mins |
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15:40 |
Lucy Fox Peter MacCallum Cancer Centre |
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20 mins |
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16:00 |
Yang Wan Institute of Haematology, Tianjin |
Clinical characteristics of Shwachman–Diamond syndrome in China — result from Childhood Bone Marrow Failure Diseases Register of China Alliance for Blood Diseases(cBMFR-CABD) |
15 mins |
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16:15 |
Selected Abstract Orna Steinberg Shemer |
Genetic background and Clinical Characteristics of Congenital Neutropenias in Israel |
10mins |
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16:25 |
Selected Abstract Petr Birke (Pospisilova Lab) |
The first Case of Acute Lymphoblastic Leukemia in a 7-year-old boy with Shwachman-Diamond Syndrome |
10 mins |
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16:35 |
Selected Abstract Helen Reed |
Lymphoid Malignancy in Shwachman-Diamond Syndrome: A Case Series from the North American Shwachman-Diamond Syndrome Registry |
10 mins |
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16:45 |
Selected Abstract Clarissa Gervasoni |
Study of angiogenic potential and metabolism in mesenchymal stromal cells derived from Shwachman-Diamond Syndrome patients and new therapeutic strategies |
10 mins |
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16:55 |
Selected Abstract Apichat Photi-A |
Cellular and molecular mechanisms of the hematopoietic failure in Shwachman-Diamond syndrome |
10 mins |
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17:05 |
Session end |
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Evening entertainment |
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17:30 |
Punting on the River Cam for those interested 17:45 - Punting Group departs Robinson College with Guide 18:00 - Punting on the River Cam 18:45 - All delegates wishing to go to Gala Dinner make their way to Gonville & Caius College
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19:00 |
Drinks reception & Gala dinner at Gonville & Caius College |
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DAY THREE: THURSDAY 20 APRIL |
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Session 8: Genes, genotypes and phenotypes
Chaired by Akiko Shimamura & Pierre-Emmanuel Gleizes
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08:30 |
Yves Pastore University Hospital Center Sainte Justine, Montreal |
DNAJC21 mutations and bone marrow failure 3 overlaps SDBS |
15 mins |
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08:45 |
Jean Donadieu Hopital Armand Trousseau |
EFL1 and SRP54 |
15 mins |
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09:00 |
Alison Bertuch Baylor College of Medicine
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15 mins |
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09:15 |
Nic Robertson University of Edinburgh |
Mutations associated with Cartilage-Hair Hypoplasia impair ribosome synthesis |
15 mins |
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09:30 |
Lionel Blanc The Feinstein Institute for Medical Research |
Revisiting the Hematopoietic Defects in Rps19 and Rpl5 Haploinsufficiency at the Developmental Level |
15 mins |
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09:45 |
Jutta Koeglmeier Great Ormond Street Hospital
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15 mins |
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10:00 |
Break and refreshments |
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30 mins |
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Session 9: Clonal Haematopoiesis in inherited marrow failure syndromes
Chaired by Jeffrey Lipton and Marc Raaijmakers
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10:30 |
Akiko Shimamura Boston Children’s Hospital/Dana-Farber Cancer Institute |
Biology and outcomes of clonal evolution in SDS: implications for surveillance |
20 mins |
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10:50 |
Alan Warren University of Cambridge
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Convergent somatic evolution from early life in a Shwachman-Diamond syndrome |
20 mins |
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11:10 |
George Vassiliou University of Cambridge |
Causes and consequences of clonal haematopoiesis |
20 mins |
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11:30 |
Jean Soulier Hopital St Louis |
Clonal hematopoiesis and leukemia in Fanconi anemia |
20 mins |
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11:50 |
Lucy Godley University of Chicago |
Dynamics of clonal hematopoiesis |
20 mins |
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12:10 |
Yigal Dror University of Toronto |
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20 mins |
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12:30 |
Selected Abstract Cornelia Ziedler |
Frequency of Somatic Mutations in SDS Patients |
10 mins |
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12:40 |
Lunch Posters available for viewing
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Session 10: Bone marrow challenges, transformation and leukaemia in SDS
Chaired by Timothy Olson and Lucy Godley
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14:00 |
Stefan Meyer University of Manchester |
Leukaemia in Shwachman-Diamond Syndrome - clinical features and management |
20 mins |
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14:20 |
TBA
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20 mins |
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14:40 |
Kasiani Myers Cincinnati Children’s Hospital Medical Center
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Updates and Emerging Therapies for High Risk Disease and malignant transformation in SDS |
20 mins |
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15:00 |
Carlo Dufour IRCCS Instituto Giannina Gaslini |
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20 mins |
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15:20 |
Break and refreshments |
30 mins |
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Session 11: Workshop / Panel Discussion and Q&A: Emerging practice for bone marrow surveillance in SDS
Moderated by Jeffrey Lipton and Stefan Meyer
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15:50 |
Moderated panel discussion
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55 mins |
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16:45 |
Break and refreshments |
15 mins |
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Session 12: Workshop / Panel Discussion and Q&A: Challenges and considerations for bone marrow transplantations in SDS
Moderated by Carlo Dufour and Adrianna Vlachos
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17:00 |
Moderated panel discussion
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55 mins |
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17:55 |
Comfort Break |
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18:15 |
Feedback meeting: Patient and family foundation groups |
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18:45 |
Delegates can order food from Robinson College’s Red Brick Cafe Bar (open til 23:00) or find suggestions of local dining on our guide found at the link below.
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DAY FOUR: FRIDAY 21 APRIL |
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Session 13: Emerging and therapeutic approaches and strategies
Chaired by Valentino Bezzerri and Johanna Rommens
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08:50 |
Intro and administration |
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10 mins |
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09:00 |
Susana Navarro CIEMAT, Madrid |
Lentiviral-mediated gene therapy for Diamond-Blackfan anemia: one step closer to the clinic |
20 mins |
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09:20 |
Selected Abstract Sabine Mellor-Heineke
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G-CSF-Therapy in European Patients with Shwachman-Diamond Syndrome |
10 mins |
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09:30 |
Valentino Bezzerri Integrated University Hospital, Verona |
Development of novel therapeutic approaches for SDS |
20 mins |
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09:50 |
Selected Abstract Shengjiang Tan |
Fruit fly avatars for personalised medicine in Shwachman-Diamond syndrome
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10 mins |
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10:00 |
Maxim Rossmann University of Cambridge |
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20 mins |
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10:20 |
Break and refreshments |
20 mins |
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Session 14: International collaboration, new research questions, summation and farewell
Chaired by Alan Warren and Julia Hawkins
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10:40 |
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Report on registries, recommendations and suggestions |
20 mins |
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11:00 |
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New research questions and international collaboration |
20 mins |
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11:20 |
Julia Hawkins SDS UK |
UK Registry & Tissue Bank |
20 mins |
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11:50 |
Alan Warren University of Cambridge
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Summary, Last words (Keep working!) and Farewell |
25 mins |
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12:15
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Lunch provided for attendees before departure |
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18:00 - Punting on the River Cam
18:45 - All delegates wishing to go to Gala Dinner make their way to Gonville & Caius College (10-minute walk)
19:00 - Gala dinner begins at Gonville & Caius College
Punting
Delegates who wish to go punting before the Gala Dinner are welcome to sign up for a slot on our private SDS tour below. We will be departing from Scudamore's Mill Lane Punting Station (15-minute walk from Robinson College, 7-minute walk from dinner venue).
Punting sign-ups are now closed.
Umbrellas and blankets will be provided if needed.
Gala Dinner
Time: 19:00-22:00
Dress code: Smart / Smart casual
Venue: Gonville & Caius College
Menu:
Starter: Kidderton Ash goat’s cheese and roasted figs, pomegranate dressing, mint and rocket salad (v)
Main: Juniper braised pork belly, stem ginger, carrot purée, sprouting broccoli, crisp potato, sumac yogurt jus
Vegetarian Main (with prior notice): Summer squash and courgette tart, lemon ricotta, pickled radish, fine bean, chimichurri dressing and nasturtium salad (v)
Dessert: Madagascan vanilla panna-cotta, basil meringue, macerated strawberries, poached rhubarb and rhubarb gel
After: Coffee, tea, chocolate
Drinks provided throughout.
Tuesday 18 April
SDS UK will be sponsoring the family session from 12-2.
12-12:10 Welcome and introduction to the Congress - Alan
12:10-12:20 Welcome to the Family Session - Julia
12:20-12:45 Introductions - go around the room and hear from families attending (objectives for coming and key clinical/research topics their group is working on)
12:45-1:15 Introduction to SDS Research & Q&A - Alan
1:15-1:45 Introduction to SDS Research & Q&A - Jutta
1:45-2:00 Discussion - where can we best work together?
Thursday 20 April
Family dinner – more info to follow. Please sign up here.
Friday 21 April
Leaving lunch for families.
By Air:
- Stansted Airport
- Luton Airport
- Gatwick Airport
- Heathrow Airport
From the airports:
- Stansted Airport - Cambridge (35 minutes by train)
- Gatwick Airport - Cambridge (2 hours by train)
- Heathrow Airport - Cambridge (2 hours by train and tube) - take the Heathrow Express to London, the London Underground from Paddington to Kings Cross St Pancras then the National Rail services to Cambridge
- Coaches from all these airports run regularly to Cambridge.
- Taxis may be pre-booked from: Cambridge Connections or Panther Taxis
- Typical costs:
- Stansted: £60.00
- Luton: £80.00
- Heathrow: £120.00
- Gatwick: £140.00
Find detailed information on the Robinson College website
By Train
Non-stop trains from London take only 48 minutes. Cross country rail services link Cambridge with the Midlands and the North, via Birmingham.
*Please check alerts ahead of your journey in case of Train Strikes
By Bus
National Bus / Coach Routes
There is a frequent express bus service between London and Cambridge, and a local bus schedules can be found here.
The U Bus goes from the train station directly to Robinson College and is £3 for a day ticket.
From the bus or train station
Robinson College can be reached by taxi (10 minutes from the train or bus stations) or a 40-minute walk.