3rd announcement


Location: The congress and the opening reception take place at the Palazzo della Gran Guardia

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Sunday, April 17th

3:00 p.m. - 5:30 p.m.
AISS meets Italian Scientific Committee 
Moderatori: Cesare Danesino e Sandra Perobelli
3:00 p.m. M.Cipolli Introduzione e Aspetti Clinici
3:15 p.m. S.Cesaro Aspetti Ematologici
3:30 p.m. F.Lavini Aspetti Ortopedici
3:50 p.m. M.Daldoss Aspetti Nutrizionali
4:00 p.m. S.Perobelli Aspetti Psicologici
4:10 p.m. Compri Aspetti Odontoiatrici
4:30 p.m. C.Danesino Aspetti Genetici
4:45 p.m. M.Cipolli News di Ricerca
5:00 p.m. Discussione
*Representatives of all International Association/Foundation are welcome
*Simultaneous English translation will be available
5:00 p.m.
Registration and Poster Set-up
6:30 p.m. - 9:00 p.m.
Opening  -  Palazzo della Gran Guardia

Monday, April 18th

7:30 a.m. - 8:30 a.m.
Poster Set-up
8:30 a.m. - 8:45 a.m.
Opening and Welcome
8:45 a.m. - 10:30 a.m.
Clinical Aspects 1
Moderator : J.M. Liu (US)
8:45 a.m. Clinical Phenotype and Overview
M. Cipolli (IT)
9:00 a.m. Hemathological Manifestation
J.M. Liu (US)
9:30 a.m. Skeletal Abnormalities
E. Samaila – F. Lavini (IT)
10:00 a.m. Growth and Nutritional Status
M. Daldoss (IT) (Abs. 33)
10:10 a.m. Bone Defects, Cellular or Systemic Impairment?
A. Frattini (IT) (Abs. 02)
10:20 a.m. Anaemia and Malabsorption Presenting in a Male Infant at Two Months of Age
E. Bakkeheim (NO) (Abs. 05)
10:30 a.m. - 11:00 a.m.
Coffee break
11:00 a.m. - 12:45 p.m.
Clinical Aspects 2
Moderator: B.P. Alter (US)
11:00 a.m. An Outlook on Adult life in SDS
S. Perobelli
11:15 a.m. Fertility and Pregnancy in Inherited Bone Marrow Failure Syndromes B.P. Alter (US)
11:35 a.m. Long Term Survival Probability in SDS Italian Patients
G. Tridello (IT)
11:50 a.m. Validated programs to support cognitive development
E. Kerr (CA)
12:10 p.m. Bone Marrow Characteristics in SDS and Hematological Complications
B. Zlateska (CA) (Abs. 23)
12:20 p.m. Cognitive Interactional Assessment in Children and Teenagers with SDS
M. Batt (FR) (Abs. 04)
12:30 p.m. Misdiagnosis and/or Mistreatment of Children with SDS
E. Tsangaris (CA) (Abs. 08)
12:45 p.m. - 1:45 p.m.
1:45 p.m. - 2:45 p.m. Poster View
2:45 p.m. - 3:30 p.m.
S. Desrivieres (UK) : “Genetic Markers Of Brain Alterations And Neurocognitive Abilities In Health And Disease: Promises And Challenges Of Neuroimaging Genomics”
3:30 p.m. - 4:00 p.m.
Coffee break
4:00 p.m. - 5:15 p.m.
Roundtable on SDS Registry
Moderators: P. Durie (CA) and B.M. Assael (IT) Speakers: J. Donadieu (FRA), A. Shimamura (USA), Y. Dror (CA) and M. Cipolli (IT)
5:15 p.m. - 6:00 p.m.
Selected abstracts
moderator: Y. Dror (CA)
5:15 p.m. Uncommon Acquired Chromosome Anomalies in SDS
E. De Paoli (IT) (Abs. 16)
5:30 p.m. The North a.m.erican SDS Registry: Genetically Undefined SDS
K.C. Myers (US) (Abs. 07)
5:45 p.m. Distribution of Genetic Variants rs4906844 and rs11633924 in a Group of Patients with SDS and Correlation with Cognitive Impairment
L. Nacci (IT) (Abs. 36)

Tuesday, April 19th

8:30 a.m. - 10:30 a.m.
Basics Science and Disease Models 1
moderator: J. Rommens (CA)
8:30 a.m. Modeling Bone Marrow Failure and MDS in SDS using Induced Pluripotent Stem Cells
A. Shimamura (US)
9:00 a.m. New Insights into the SDS-related Haematological Disorder: Hyper-activation of mTOR and STAT3 in Leukocytes
V. Bezzerri (IT)
9:30 a.m. SBDS Protein in Rybosome Assembly
A. Warren (UK)
10:00 a.m. Deletion of Mitochondrial Porin Alleviates Stress Sensibility in the Yeast Model of SDS
A.N. Jensen (TH) (Abs. 19)
10:15 a.m. Is the Loss of Interaction between the Proteins EFL1 and SBDS of SDS?
N. Sanchez-Puig (MX) (Abs. 18)
10:30 a.m. Deficiency of Elongation factor like GTPase 1 (Efl1) mimics aspects of Shwachman-Diamond Syndrome in the mouse
A. Hoslin (UK) (Abs. 39)
10:45 a.m.- 11:15 a.m.
Coffee Break
11:15 a.m. - 12:45 p.m.
Basic Science and Disease Models 2
moderator: A. Warren (UK)
11:15 a.m. Responses of Different Organs to Loss of SBDS as Revealed by Mouse Models
J. Rommens (CA)
11:45 a.m. A mammalian model of neutropenia in SDS
H.G.P. Raaijmakers
12:15 p.m. A Replication Stress-Induced Checkpoint Arrests Development in a Drosophila Model Of SDS
S. Tan (UK) (Abs. 11)
12:30 p.m. SBDS Knockout in Zebrafish Results in Neutropenia, Pancreas and Liver Atrophy, Diminished Growth and Reduced Viability
U. Oyarbide (US) (Abs. 12)
12:45 p.m. - 2:00 p.m.
2:00 p.m. - 3:00 p.m.
Poster view
3:00 p.m. - 4:15 p.m.
moderator: B.M. Assael (IT)
3:00 p.m. Hematopoietic stem cell transplantation in Shwachman-Diamond Disease: an update
S. Cesaro (IT)
3:15 p.m. SDS hematopoietic system and its relevance to bone marrow failure and leukemia
Y. Dror (CA)
3:30 p.m. SBDS and Basic Defect Therapy
M. Cipolli (IT)
3:45 p.m. Outcome of Hematopoietic Stem Cell Transplantation in Patients with SDS with or without Secondary MDS/AML: an Analysis of the German Shwachman Diamond Cohort by the SCNIR-Europe Mellor
S. Mellor-Heineke (DE) (Abs. 09)
4:00 p.m. Multidisciplinary Care and Stem Cell Transplantation for SDNS: the Ste-Justine experience
Y. Pastore (CA) (Abs. 10)
4:15 p.m. - 4:45 p.m.
Coffee Break
4:45 p.m. - 5:30 p.m.
Selected abstracts
moderator: S. Cesaro (IT)
4:45 p.m. Premature Senescence in Hematopoietic Stem and Progenitor Cells in Ribosomopathy-Associated Bone Marrow Failure Syndromes
J.M. Liu (US) (Abs. 15)
5:00 p.m. SDS Murine Model Organs Exhibit Reduction of 80S Ribosomes and Heavy Polysomes with Altered Transcript Binding
J. Rommens (CA) (Abs. 14)
5:15 p.m. Expression Studies in Bone Marrow of Patients with SDS Carrying a Cromosome 20 long Arms Interstitial Deletion
R. Valli (IT) (Abs. 13)

Wednesday, April 20th

8:30 a.m. -11:00 a.m.
moderator: C. Danesino (IT)
8:30 a.m. Cytogenetic Monitoring of SDS
F. Pasquali (IT)
9:00 a.m. Ribosomopathies and the paradox of cellular hypo- to hyperproliferation
K. De Keersmaecker (BE)
9:30 a.m. Preliminary results of exome sequencing in SDS
C. Danesino (IT)
10:00 a.m. Genetic Analysis of the SBDS Gene a.m.ong Non-Italian Patients
E. Nicolis (IT) (Abs. 20)
10:15 a.m. Genetic Variation in the SDS Gene, SBDS
J. Rommens (CA) (Abs. 01)
10:30 a.m. Small-Angle-X Ray-Scattering Studies of the Low-Resolution Structure of the Ribosomal GTPase EFL1, the SBDS Protein and Their Complex
D. Siliqi (IT) (Abs. 21)
10:45 a.m. Radiosensitivity and DNA Danage Repair in Lymphoblastoid Cell Lines Derived from SDS patients
J. Morini (IT) (Abs. 24)
11:00 a.m. - 11:30 a.m.
Coffee Break
11:30 a.m. - 12:30 p.m.
Closing Remarks:
  1. Families point-of-view
  2. Summary and perspectives
  3. Next meeting announcement

The initiative is under the Patronage of

Organizing secretariat
Città Affari sas – Mrs Flavia Pizzini
Lungadige G. Matteotti, 2
37126 Verona
Tel. +39 045 917806 Mob. +39 348 3341695
Web: www.cittaffari.eu

Email: sdsveronacongress@cittaffari.eu

SDS Site: http://sdsveronacongress.cittaffari.eu

Azienda Ospedaliera Universitaria Integrata
P.le Stefani 1
37126 Verona
tel +39 045 812 2293 fax +39 045 812 2042

Email: marco.cipolli@ospedaleuniverona.it

Site: www.cfcverona.it