Research and Research Policy

7000 rare diseases, 5 300 research projects concentrating on 2 000 diseases.Research is one of the two main pillars in EU and national strategies. This session will discuss the necessarey synergies to optimise research and its outcomes.

Co-chairs:

• Mr Patrik Kolar, Head of Unit DG RTDF.4 “Genomics and systems biology”, European Commission

   

  
  Dr Birgit Wetterauer, Federal Ministry of Education and Research, Germany (invited)

Determinants for research on rare diseases

Prof Francesc Palau, Biomédica en Red, de Enfermedades Raras (CIBERER), Spain (invited)

Predictors of orphan drug approval in the European Union

Dhr. drs Harald E. Heesmtra, Division of Pharmacoepidemiology and Pharmacotherapy, Utrecht University

Funding opportunities and impact on orphan drug development

Dr Sophie Koutouzov, Programme Coordinator, E-Rare

The International Classification of Diseases Revision

This session will investigate the usefulness and progresses in the definition of rare diseases, moving from only 300 rare diseases coded in the International Classification of Diseases, to 7 000 in the next revision.

Co-chairs:

• Dr Ségolène Aymé, Director of Orphanet

• Prof Manfred Suhrmann -Spangenber, Co-ordinator Orphanet Germany

 

Speakers:

• Dr Peter Robinson, Humboldt University, Berlin
  
  Dr Ségolène Aymé and Ana Rath, Orphanet

PlayDecide Session

Interactive session where participants will be invited to vote on key policies for rare diseases.

Co-chairs:

• François Houÿez, Health Policy Director, Eurordis

“PlayDeciders”:

• Andrea Bandelli

• Michael Creek

• Marta Fikus-Krynska, Kopernicus Science Centre, Poland

• The audience

 

Cross-border activities of Centres of Expertise

This session will discuss the mobility of patients and the mutualisation of expertise to ensure optimum care. Is the Directive proposal an appropriate response to the needs of patients and health care professionals?

Co-chairs:

• John Dart, Debra, United Kingdom

• Yolande Wagener, Ministry of Health, Luxembourg (invited)

 

Speakers:

• Antoni Montserrat Moliner, Policy Officer for Rare and Neurodevelopmental Diseases, European Commission

• Dr Pohla Gubo The Epidermolysis Bullosa House in Salzbourg

• Dr Kate Bushby, TREAT NMD, Newcastle

 

Ultra Rare Diseases

This session will examine the subject of how best to organise centres of expertise at a European and international level and understanding the specific issues involved.

Co-chairs:

• Peter Saltonstall, NORD

• Yann Le Cam, CEO Eurordis

 

Speakers:

• Marjet Stamsnijder, Progeria Family Circle, The Netherlands

• Prof Hennekam, Marshall Smith group in the Netherlands

• Annet van Betuw: Q11 network, The Netherlands

 

Clinical Trials, Involvement of Patients in Clinical Trials

The results of a recent study conducted by Eurordis show that 45% of rare disease patient groups in Europe declare that they actively participate in clinical trials. Are patient organisations real partners to clinical trials? Are patient organisations ready to deliver?

Co-chairs:

• Dr Erik Tambuyzer, EBE/EuropaBio

• Alastair Kent, Genetic Interest Group, United Kingdom

 

Speakers:

• Mr Richard West, Behcet UK
  Mrs Greetje Goossens, European Myeloma Platform

  Mr Rob Camp, Eurordis
  Dr Eric Pelkmans - Tibotec

Databases and Registries

Governance, leadership, sustainability, legal aspects, costs: are databases and registries adapted tools to oster research?

Co-chairs:

• Torben Groennebaek, Rare Disorders Denmark

• Helmut Brand NLD Dg Sanco Public Health Genomic European Network (invited)

Speakers:

Introduction

Stuart Tanner, EuroWilson: Summary of EPPOSI, RDTF and ENCPP meetings

Three panellists

Prof. G.B.Landwehrmeyer, European Network for Huntington Disease

Dr Elizabeth Hernberg-Stahl, Shire

Cees Smit, European Haemophilia Consortium

 

This session will concentrate on describing the methodology of the implementation of national plans. A common set of measures and indicators to follow the progress of national plans will be discussed.

Co-chairs:

Dr Domenica Taruscio, Europlan leader, ISS, Italy

Dr Manuel Posada de la Paz, Instituto de Salud Carlos III, Spain (invited)

Speakers:

Evaluation of results

Dr Laura Fregonese, Europlan and Rare Disease Task Force working group

Recommendations for national plans

Dr Edmund Jessop, National Commissioning Group NCG NHS, UK

Point of view of patients

Albert van der Zeijden, International Association of Patient Organisations and Europlan