Diamond-Blackfan Anemia: NOVEL MECHANISMS AND THEIR IMPLICATIONS FOR THERAPIES

Stand bei Drucklegung (September 2017)Herausgeber: © Universitätsklinikum Freiburg | 2017Redaktion: Zentrum für Kinder- und Jugendmedizin Gestaltung: Medienzentrum | Universitätsklinikum Freiburg

Date: 06-07th October 2017Venue: Auditorium Department of Obstetrics and Gynecology

Sunday 8th October 20178.00 - noon

BLACK FORREST EXCURSION

2nd Interdisciplinary Expert Meeting – EuroDBA: Building Global Bridges

FINAL PROGRAM

University Medical Center Freiburg

13.15 STEROIDS AND GROWTH HORMONES Chairs: Kasia Albrecht (Poland) and Ito Etsuro (Japan)How many steroid trials does it take? Marcin Wlodarski, Freiburg

Steroids and erythropoiesis Anupama Narla, Stanford, USA

Glucocorticoids improve erythroid progenitor maintenance Johann Flygare, Lund, Sweden

Hormonal imbalance in DBA and other inherited anemias Regine Grosse, Hamburg

14.15 COFFEE BREAK & POSTER VIEWING

14.30 GENE THERAPY: FEASIBLE IN DBA? Chairs: Lihong Shi (China) and Jeff Lipton (USA)Genome and epigenome editing to tackle immunodeficiency Claudio Mussolino, Freiburg

Development of gene therapy for DBA Stefan Karlsson, Lund, Sweden

Update in a Fanconi anemia gene therapy trial Juan Bueren, Madrid, Spain

16.00 COFFEE BREAK & POSTER VIEWING16.30 NOVEL THERAPEUTICS

Chairs: Charlotte Niemeyer (Germany) & Jeff Lipton (USA)Update on L-Leucine and Sotatercept in DBA Adrianna Vlachos, New York, USA

Discussion of interesting cases / novel approaches all

17.00 WRAP UP (EuroDBA consortium organizers & Steve Ellis, DBAF)

19.30 EVENING: CONFERENCE DINNER

Saturday 7th October 2017KNOWN, NOVEL AND FUTURE THERAPIESVenue: Lecture hall, Department of Gynecology, University Hospital Freiburg

08.15 HEMATOPOIETIC STEM CELL TRANSPLANTATION Chairs: Marc Bierings (The Netherlands) & Charlotte Niemeyer (Freiburg) French HSCT experience Jean-Hugues Dalle, Robert Debre Hopital, Paris, France

German HSCT experience Brigitte Strahm, Freiburg

Brazilian HSCT experience Luiz Guilherme Darrigo Jr, São Paulo, Brazil

US HSCT experience Adrianna Vlachos, New York, USA

HSCT in infants with DBA Leo Kager, Vienna, Austria

Q&A discussion All

09.15 COFFEE BREAK & POSTER VIEWING

09.45 IRON CHELATION Chairs: Josu de la Fuente (UK) & Ulf Tedgard (Sweden)Mechanisms of iron overload in DBA Ugo Ramenghi, Turin, Italy

Standard of care: when and how Antoni Kattamis, Athens, Greece

Ferriprox as an alternative chelation agent in DBA? Thierry LeBlanc, Paris, France

10.30 VISIT TO LOCAL FARMERS MARKET (MÜNSTERMARKT), LUNCH

We thank the DBA UK patient association and Fritz-Thyssen science foundation for their generous support!

“EuroDBA: Building Global Bridges” Dear participants, friends and guests,

“EuroDBA: Building Global Bridges” is an interdiscipli-nary symposium established under the umbrella of the EuroDBA consortium with the aim to facilitate sci-entific networking and advance clinical understand-ing of Diamond-Blackfan anemia (DBA). All research and networking is focused on the improvement of health of patients with DBA around the world.

Following our first successful meeting in 2014 we are delighted to welcome you for this second symposium. We are tremendously grateful to all participating scientists and clinicians for sharing their latest scien-tific results. We wish that this meeting will provide a friendly and safe environment to exchange research ideas and pool resources. Furthermore, we are very proud to host patient group representatives from various countries. Finally, we thank our sponsors and supporters, Fritz Thyssen Foundation, Diamond Black-fan Anaemia Charity (DBA UK), Eva Uth Foundation, and the University Medical Center of Freiburg for their generosity.

See you in Germany′s sunniest city and the gateway to the Black forest!

On behalf of EuroDBA,

Thursday 05th October 2017

16.00

EuroDBA business meeting and patient groups in Europe (closed sessions)Venue: University Children´s Hospital, seminar rooms Belchen / Feldberg

Friday 06th October 2017BASIC MECHANISMS OF DISEASEVenue: Lecture hall, Department of Gynecology, University Hospital Freiburg

7.45 REGISTRATION and presentation check-in8.30 WELCOME

(Marcin Wlodarski, Freiburg and Martin Winter, DBA UK)8.40 RIBOSOME BIOGENESIS

Chairs: Dagmar Pospisilova, Czech Republic & Hannah Tamary, IsraelMolecular, Cellular & Pathophysiological Aspects of Ribosome Biogenesis Denis Lafontaine, Brussels, Belgium Mechanisms of ribosome assembly Alan Warren, Cambridge, UK

Disruption of pre-rRNA maturation in DBA Pierre-Emmanuel Gleizes, Toulouse, France

Exploring ribosomal activity in ribosomal diseases Lorenzo Montanaro

10.00 COFFEE BREAK & POSTER VIEWING (presenters attending)

10.30 DISEASE PATHOPHYSIOLOGY Chairs: Brigitte Lausen (Denmark) & Nataliya Smetanina (Russia)What´s new in erythropoiesis Marieke von Lindern, Amsterdam, The Netherlands

Depletion of ribosomal protein S19 causes a reduction of rRNA synthesisFabrizio Loreni, Rome, Italy

Erythroid tropism in DBA Lydie DaCosta, Paris, France

Zebrafish model of S19 Beth Payne, UK

Functional studies on LCL from patients Anna Aspesi, Italy

12.00 LUNCH BREAK13.00 NOVEL CAUSES & BASIC MECHANISMS

Chairs: Ina Hainmann (Germany) & Roula Farah (Lebanon)Engineering Gene Expression: what can we learn for DBA? Tamir Tuller, Tel Aviv, Israel

ADA2 deficiency linked to pure red cell aplasia Amina Szvetnik, Freiburg, Germany

Detection of novel gene aberrations in Turkish DBA registry Sule Unal, Ankara, Turkey

A widening spectrum of phenotypes linked to RPmutationsAlyson MacInnes, Amsterdam, The Netherlands

Comparative Analysis of Hematopoietic Proge-nitor and Stem Cells in DBA and Fanconi Anemia Susana Navarro, Madrid, Spain

14.30 COFFEE BREAK & POSTER VIEWING15.00 EXPERIMENTAL TREATMENTS & DRUG DISCOVERY

Chairs: Christina Belendez (Spain) & Steve Ellis (USA)Preclinical Model of DBA: Rpl11 knockout mouse Colin Sieff, Harvard University, USA

Identification of novel compounds in DBA Johan Flygare, Lund, Sweden

Drug discovery for DBA using patient iPS cells Sergey Doulatov, University of Washington, Seattle, USA

Screening for novel drug compounds Ross Hannan, Canberra, Australia

16.30 DEPARTURE FOR EVENING EVENT Wine tasting and appetizers at a local vineyard EVENING DISCUSSION: RESEARCH IDEAS – POOLING RESOURCES – SURVEILLANCECharlotte Niemeyer, MDMarcin Wlodarski, MD