Scientific Program

 

Scientific Program

Please click on the day to see the full scientific program of that day.

Thursday, February 2click to expand

14:00 - 14:15 Opening of conference

14:15 - 15:45 SCIENTIFIC SESSION

Update on erythropoiesis

Chair: C Camaschella (Italy)

  • Erythropoiesis control
    S Rivella (USA)
  • Congenital dyserythropoietic defects
    A Iolascon (Italy)
  • Erythropoietic transcription factor defects and consequences
    D Higgs (United Kingdom)

15:45 - 16:00 Coffee break

16:00 - 17:30 CLINICAL CASE SESSION

Case presentations by delegates

Moderators: A Iolascon (Italy), MD Cappellini (Italy)

  • Diagnosis of anemias by tomographic digital holography
    M Mugnano (Italy)
  • Atypical hereditary spherocytosis associated with mitochondrial cytopathy diagnosed by whole-exome sequencing
    L Couronne (France)
  • Mutating heme oxygenase-1 into a peroxidase causes a defect in bilirubin synthesis associated with microcytic anemia and severe hyperinflammation
    J Greil (Germany)
  • Adult onset isolated severe sideroblastic anemia attributed to an amino-acylation defect
    D Swinkels (The Netherlands)
  • Hemosiderosis, severe anemia and erythrocyte morphology aberrations explained by dna analysis
    A van Gammeren (The Netherlands)
  • Whole genome sequencing (WGS) for rare inherited anaemias- filling in the gaps
    N Roy (United Kingdom)
  • XPO1 regulates erythroid differentiation by exporting HSP70, and is a potential target for the treatment of B-thalassemia
    F Guillem (France)

17:30 - 18:30 SCIENTIFIC SESSION

Failure of Erythropoiesis

Chair: S Rivella (USA)

  • Blackfan Diamond anemia
    L Da Costa (France)
  • Acquired failures of erythropoiesis
    C Dufour (Italy)

18:30 - 19:00 POSTER PITCHES

Short case presentations by delegates

Moderator: A Iolascon (Italy)

  • Iron refractory iron deficiency anemia (IRIDA): A heterogeneous disease that is not always iron refractory
    A Donker (The Netherlands)
  • When something bad runs in the family: The power of modern molecular techniques in explaining  a very rare clinical syndrome
    A Ermens (The Netherlands)
  • Diagnosis and molecular characterization of a novel alpha(0)-thalassemia deletion found in a Greek child with unexplained microcytic hypochromic anemia
    A Makis (Greece)
  • Fyn plays a novel key role in erythropoiesis as oxidative sensor
    E Beneduce (Italy)
  • Pancytopenia in a fifteen years old girl previously diagnosed with immune thrombocytopenia
    V Campuzano (Spain)
  • Acute hepatic crisis in a 4-year-old girl with sickle cell anemia: Favourable outcome after exchange transfusion
    H Khalifeh (Lebanon)
Diagnosis of anemias by tomographic digital holography
P Ferraro
Atypical hereditary spherocytosis associated with mitochondrial cytopathy diagnosed by whole-exome sequencing
L Couronne
Mutating heme oxygenase-1 into a peroxidase causes a defect in bilirubin synthesis associated with microcytic anemia and severe hyperinflammation
J Greil
Adult onset isolated severe sideroblastic anemia attributed to an amino-acylation defect
D Swinkels
Hemosiderosis, severe anemia and erythrocyte morphology aberrations explained by dna analysis
A van Gammeren
Whole genome sequencing (WGS) for rare inherited anaemias- filling in the gaps
N Roy
XPO1 regulates erythroid differentiation by exporting HSP70, and is a potential target for the treatment of B-thalassemia
F Guillem

19:00 - 20:00 Welcome reception

Friday, February 3click to expand

09:00 - 10:30 SCIENTIFIC SESSION

Next generation sequencing

Chair: M Muckenthaler (Germany)

  • General approach to NGS
    V Benes (Germany)
  • Use of NGS in the diagnosis of anemia
    I Roberts (United Kingdom)
  • Clinical cases solved by NGS
    M Sanchez (Spain)

10:30 - 11:00 Coffee break

11:00 - 12:00 SCIENTIFIC SESSION

Proteomics of anemias

Chair: L De Franceschi (Italy)

  • General approach to Proteomics of erythropoiesis
    G Bosman (the Netherlands)
  • Proteomics of red cells and applications
    AM Toye (United Kingdom)

12:00 - 13:00 ROUND TABLE SESSION

Round table: Rare anemias and European Network for rare disease from patient’s perspective

Chair: JL Vives-Corrons (Spain)

  • Point of view of ERN
    JL Vives-Corrons (Spain)
  • Point of view of patients association
    To be announced
  • Point of view of a HCP
    MD Cappellini (Italy)

13:00 - 14:00 Lunch

14:00 - 15:30 INTERACTIVE SESSION

Interactive case presentations by faculty (I)

Moderators: A Iolascon (Italy), MD Cappellini (Italy)

  • Interactive clinical cases of red cell membrane defects
    P Aguilar-Martinez (France)
  • Interactive clinical cases of immuno-hemolytic anemia
    W Barcellini (Italy)
  • Interactive clinical cases of stomatocytoses
    I Andolfo (Italy)

15:30 - 16:00 Coffee break

16:00 - 17:30 INTERACTIVE SESSION

Interactive case presentations by faculty (II)

Moderators: P Aguilar-Martinez (France), JL Vives-Corrons (Spain)

  • Clinical cases of enzymatic defects
    R van Wijk (the Netherlands)
  • Clinical cases of Thal interacting with other defects
    A Taher (Lebanon)
  • Clinical Cases of CDA-s
    R Russo (Italy)
17:30-18:00 POSTER PITCHES
Moderator: A Iolascon (Italy)
Infantile CMV-associated severe warm autoimmune hemolytic anemia
H Khalifeh (Lebanon)
DNA study support in the diagnosis of hemoglobinopathies with altered oxygen affi nity
L Lacalle (Spain)
Sickle cell variant in a third trimester- pregnant patient : risks and treatment options
A Youssef (Egypt)
New diagnosis approach for membranopathies based on characterization of red blood cell deformability by osmotic
gradient ektacytometry
M Mañu Pereira (Spain)
Nrf2 plays a key role in erythroid maturation and sensitivity to exogenous stress
C Mbiandjeu Toya (Italy)
17:30 - 18:00 POSTER PITCHES

Case presentations by delegates

Moderator: A Iolascon (Italy)
  • Infantile CMV-associated severe warm autoimmune hemolytic anemia
    H Khalifeh (Lebanon)
  • DNA study support in the diagnosis of hemoglobinopathies with altered oxygen affi nity
    L Lacalle (Spain)
  • Sickle cell variant in a third trimester- pregnant patient : risks and treatment options
    A Youssef (Egypt)
  • New diagnosis approach for membranopathies based on characterization of red blood cell deformability by osmotic gradient ektacytometry
    M Mañu Pereira (Spain)
  • Nrf2 plays a key role in erythroid maturation and sensitivity to exogenous stress
    C Mbiandjeu Toya (Italy)

Saturday, February 4click to expand

09:00 - 10:30 SCIENTIFIC SESSION

Iron and Erythropoiesis

Chair: P Aguilar-Martinez (France)

  • General concept on Iron and Erythropoiesis
    M Muckenthaler (Germany)
  • Iron overload in Thalassemias and rare anemias
    A Taher (Lebanon)
  • Iron restricted erythropoiesis
    C Camaschella (Italy)

10:30 - 11:00 Coffee break

11:00 - 13:00 SCIENTIFIC SESSION

New therapies for iron overload and deficiency

Chair: S Rivella (USA)

  • New drugs in Thalassemias and rare anemias
    MD Cappellini (Italy)
  • New drugs for iron deficiency
    D Girelli (Italy)
  • New drugs for enzymatic defects
    M Layton (United Kingdom)
  • Modulation of DNA expression
    L De Franceschi (Italy)

13:00 - 13:15 Concluding remarks

13:15 - 14:45 Lunch