08:45 - 10:15 Session 3: Specific Diseases - Telomere diseases and Fanconi Anemia
Chair: C Dufour (Italy)
- Telomere disease: Molecular pathogenesis & clinical phenotype
I Dokal (United Kingdom)
- Gene therapy in Fanconi anemia (FA)
J Bueren (Spain)
- Non classical Constitutional Marrow Failure Syndromes
M Miano (Italy)
- New Frontiers in Diagnosis and Treatment of Gaucher's Disease
M Machaczka (Sweden)
10:15 - 10:45 Coffee break
10:45 - 11:45 Session 4: Specific Diseases - Ribosomal disorders
Chairs: K de Keersmaecker (Belgium) & A Warren (United Kingdom)
- Shwachman-Diamond Syndrome and the quality control of Ribosome assembly
A Warren (United Kingdom)
- Zebrafish models and hematologic Ribosome diseases
B Payne (United Kingdom)
- Disruption of pre-rRNA maturation in DBA
PE Gleizes (France)
11:45 - 12:15 Session 5: Presentation and discussion of rare and unusual cases
Chairs: C Mecucci (Italy) & B Schlegelberger (Germany)
- Presentation and discussion of rare and unusual cases
C Mecucci (Italy), C Niemeyer (Germany), T Ripperger (Germany), B Schlegelberger (Germany) & selected abstracts.
12:15 - 13:15 Lunch
13:15 - 13:45 Oral Session 3
Chair: C Niemeyer (Germany)
- NEXT-GENERATION SEQUENCING REVEALS NOVEL GERMLINE ALTERATIONS OF DDX41 IN 3 PATIENTS DIAGNOSED WITH MYELOID NEOPLASMS
C Andrés Zayas (Spain0
- SAMD9 AND SAMD9L IN MYELOID MALIGNANCIES AND BONE MARROW FAILURE SYNDROME
J Cammenga (Sweden)
13:45 - 15:00 Session 6: Round table I - SCT when and how in:
Chair: T Leblanc (France)
- Severe Congenital Neutropenia (SCN)
J Donadieu (France)
- Telomere diseases
F Fioredda (Italy)
- Ribosome diseases
JH Dalle (France)
- Fanconi Anemia
C Dufour (Italy)
- Forum discussion
All speakers
15:00 - 15:30 Coffee Break
15:30 - 16:30 Oral Session 4
Chairs: K de Keersmaecker (Belgium) & F Fioredda (Italy)
- EX VIVO CULTURE OF NEUTROPHILS AS A TOOL TO EXAMINE NEUTROPHIL CELL BIOLOGY AND DISORDERS
TK Roberts (United Kingdom)
- RESULTS OF USE OF ARRAY CGH TO IDENTIFY GENETIC BACKGROUND OF FANCONI ANEMIA
A Repzynska (Poland)
- INVESTIGATION OF FANCA GENE MUTATIONS IN FANCONI ANEMIA PATIENTS IN TUNISIA
A Amouri (Tunisia)
16:30 - 17:30 Session 7: Round table II - Is precision medicine applicable to Granulocytes & constitutional MFS?
Chair: A Warren (United Kingdom)
- Precision medicine in cancers with somatic ribosome defects
K de Keersmaecker (Belgium)
- Severe Congenital Neutropenia (SCN)
I Touw (The Netherlands)
- Fanconi Anemia
T Leblanc (France)
- Forum discussion
All speakers