Programa
JUNE - MONDAY 10th
17:00 - 19:30 Business Meeting & PAOS: Business Meeting Meeting with the patient representatives
RiboEurope EJPRD consortium & PAOs
Visit to Biomedical Innovation Unit labs and CliniStem Manufacturing facility (If someone is interested)
20:30 - 22:30 Dinner with the patient representatives and the invited speakers
(Hotel Índigo Madrid Princesa)
JUNE - TUESDAY 11th
08:30 - 08:45 REGISTRATION
08:45 - 08:55 Welcome and Introduction
Marije Bartels / Pierre-Emmanuel Gleizes / Susana Navarro
08:55 - 10:15 Basic & translational reseach I (Ribosome biology):
(Chairs: Denis Lafontaine & Marie-Françoise O’Donohue)
08:55 - 09:10 Introduction:
Probing the ribosomal RNA methylation repertoire in Diamond-Blackfan anemia
Denis Lafontaine
09:10 - 09:30 Ribosomes as drivers and targets in colorectal cancer
John Knight
09:30 - 09:45 Investigating the function of HEATR3 in ribosome biogenesis and the nucleolar surveillance pathway
Amee J. George
09:45 - 10:00 SURF2 is a new player in nucleolar stress response
Simon Lebaron
10:00 - 10:15 Detecting pre-rRNA processing defects by RNA capture and capillary electrophoresis
for DBA study and diagnosis
Pierre-Emmanuel Gleizes
10:15 - 12:00 Basic & translational reseach II (Hematopoiesis):
(Chairs: Lydie Da Costa, Emile van den Akker)
10:15 - 10:30 Deciphering disease mechanisms in DBA, one cell at a time
Deena Iskander
10:30 - 10:45 Diamond Blackfan Anemia: Impact of the arginine-polyamine-hypusine axis on
erythroidprogenitor metabolism and differentiation
Sandrina Kinet
10:45 - 11:00 Transfusion-ready red blood cell generation from induced pluripotent stem cells
Emile van den Akker
11:00 - 11:30 Morning Coffee break
11:30 - 11:45 Investigating Novel Erythropoietic Factors in Diamond-Blackfan Anemia Syndrome
via Erythroblast Differentiation Assays
Devon Germain
11:45 - 12:00 Response to anaemic stress in Diamond-Blackfan anaemia reveals metabolic
decompensation
Helen Brown
12:00 - 13:15 Mechanisms of treatment independence/hematopoietic evolution
(Chairs: Allan Warren, Denna Iskander)
12:00 - 12:15 Mechanisms of somatic genetic rescue in germline ribosomopathy
Alan Warren
12:15 - 12:30 Natural gene therapy in DBA syndrome explored using single cell genomics
Marcin Wlodarski
12:30 - 12:45 Treatment-independence due to self-reverting mutation in DBA patients
Paola Quarello
12:45 - 13:15 PANNEL DISCUSSION: somatic mosaicis and clonal slection in DBA
Alan Warren, Marcin Wlodarski, Paola Quarello
13:15 - 14:30 LUNCH and poster viewing
14:30 - 16:15 Novel & Advanced therapies
(Chairs: Charlotte Niemeyer, Paula Río )
14:30 - 15:00 “KEYNOTE LECTURE: Advances in Hematopoietic Stem Cell Gene Therapy”
Juan Bueren
15:00 - 15:15 Development of gene therapy for RPS19 deficient Diamond Blackfan anemia
Stepahn Karlsson
15:15 - 15:30 Development of a gene editing approach for the treatment of RPL5-deficient Diamond- Blackfan anemia patients
Manuel Palacios
15:30 - 15:45 Preclinical development of RPS19 lentiviral vector for gene therapy (ON LINE PRESENTATION)
Senthil Bhoopalan
15:45 - 16:00 Single-cell-multiomics of gene therapy treated ribosomal protein S19-deficient Diamond-Blackfan Anemia patient cells demonstrates molecular efficacy and uncover new pathogenic mechanisms
Johan Flygare
16:00 - 16:15 Exploring Tyrosine Kinase Inhibitors as Potential Therapeutics for Diamond-Blackfan
Anemia
Victoriano Mulero
16:15 - 16:45 Coffe break
16:45 - 17:15 PANNEL DISCUSSION & PATIENT PERSPECTIVE
Stefan Karlsson, Apriligen, Johan Flygare
Marcin Wlodarski, Senthil Bopahalan (on line)
Susana Navarro, Juan Bueren
Bas Reijnen
17:15 - 17:50 Posters session I
(Chairs: Susana Navarro & Marien Van der Stel)
SHORT TALKS: selected posters session
17:15 - 17:30 Elucidating the Role of RPL5/uL18 Mutations in the Pathogenesis of Diamond- Blackfan Anemia
Federica Marchesini
17:30 - 17:35 iPSC disease models to study and treat Diamond-Blackfan Anemia Syndrome (DBAS)
Chantal Clark
17:35 - 17:40 Towards an improved erythroid production from iPSCs
Marien Van der Stel
17:40 - 17:45 Elucidating glucocorticoid-responsiveness in Diamond-Blackfan anemia syndrome
using iPSC-derived erythroblasts
Teun Slijkerman
17:45 - 17:50 The biology of RPS19-R62W: Interacting proteins and their roles in red blood cell
differentiation
Stefan Weitzer
19:30 TOURISTIC TOUR & TAPAS DINNER "EL RINCÓN DE LA CAVA"
Meeting point Plaza España at 19:30
JUNE - WEDNESDAY 12th
09:00 - 10:30 Allogeneic Hematopoietic Stem Cell Transplantation
(Chairs: Cristina Beléndez, Marije Bartels)
09:00 - 09:30 KEYNOTE LECTURE: From Transfusion to Stem Cell Transplantation
Charlotte Niemeyer
09:30 - 09:45 An interesting/difficult HSCT case
Marije Bartels
09:45 - 10:00 EBMT overview in bone failures and DBA
Carlo Dufour
10:00 - 10:30 PANNEL DISCUSSION:
Elective HSCT in DBA patients: Is reduced conditioning an option?
Brigitte Strahm / Carlo Dufour / Jeffrey Lipton / Cristina Belendez / Marco Zecca
10:30 - 11:00 Coffee break
11:00 - 12:30 The adult patient with DBA syndrome
(Chairs: Brigitte Strahm & Hannah Tamary)
11:00 - 11:30 KEYNOTE LECTURE: Hematological and systemic features of DBA in adults in Germany
Alexander Puzik
11:30 - 11:45 Pregnancy and genetic counseling
Lydie Da Costa
11:45 - 12:00 Women’s Health in Diamond Blackfan Anemia Syndrome: Data from the Diamond
Blackfan Anemia Registry
Adriana Vlachos
12:00 - 12:15 How do I transition DBA patients?
Cristina Belendez
12:15 - 12:30 The Global Diamond Blackfan Anemia Cancer Consortium
Jeffrey Lipton
12:30 - 14:00 LUNCH + poster viewing
14:00 - 14:50 The patient perspective
(Chairs: Bas Reijnen & Colin Noel )
14:00 - 14:20 Beate Buchholz & Boris Marte
14:20 - 14:50 PANNEL DISCUSSION: What needs to be done to improve the health status of adults with DBA?
(Chair: Alex Puzik)
Beate Buchholz / Boris Marte / Carlos Carrión / Alexander Puzik / Adriana Vlachos / Dagmar Pospisilova
14:50 - 15:05 Late breaking presentation session
(Chairs:Irma Diazani & Eva-Maria Kornemann)
Clonal hematopoiesis in long-term survivors of pediatric hematopoietic stem cell transplantation
Mirjam Belderbos
15:05 - 15:30 Poster Session II and Award
(Chairs:Irma Diazani & Eva-Maria Kornemann)
15:05 - 15:10 De novo heterozygous RPL8 missense variant in a patient from Yakutia with Diamond-
Blackfan anemia
Anna V Pavlova
15:10 - 15:15 Learning through registries, a desired and demanded need by patient associations,
clinicians and investigators. Preliminary data from the Spanish Registry of Blackfan Diamond Anemia Syndrome (DBA).
Alba González-Guerrero
15:15 - 15:20 Implementing Human Phenotype Ontology into the German DBA registry what’s the benefit?
Eva-Maria Kornemann
15:20 - 15:30 Poster award
(Chairs: Marije Bartels, Susana Navarro, Pierre-Emmanuel Gleizes)
15:30 - 16:00 Coffee break
16:00 - 17:00 How can we implement DBA Guidelines efficiently?
(Chairs: Paola Quarello & Marcel Hibert)
16:00 - 16:20 1. Stepwise approach from diagnosis to treatment: Overcoming practical challenges
Thierry Leblanc
16:20 - 16:40 2. Online implementation and future updates
Marcin Wlodarski
16:40 - 17:00 PANNEL DISCUSSION
Thierry Leblanc & Marcin Wlodarski
• Are there different laboratory reference ranges available between a healthy and a DBA
patient (e.g. for vitamin d)?
• Recommendations for food supplements or diets (e.g. vitamin d, leucine,..)
• Any new evidence for the influence of epo on hb in dba patients available?
• Dba patients who are not transfusion-dependent: influence of exjade on hematopoiesis (is
hb (temporarily) lower than without exjade?), ferritin and organ iron overload in comparison
to transfusion-dependent patients
• Describing the phenotype(s) of dba patients: is it possible to classify/describe different
phenotypes and to adapt treatment recommendations for each phenotype?
• Covid: is evidence about the course/duration of a covid disease in dba patients available?
Vaccination recommendation?
17:00 - 17:15 Closing remarks
Marije Bartels / Pierre-Emmanuel Gleizes / Susana Navarro
CIEMAT Building 1: Main Ballroom