Governance
Executive Committee
prof. dr. Alberto Pereira
WP1, WP6, leader, EB and coordinator
(co)Chair of ERN-RWG, Endo-ERN coordinator, EJP RD
WP17 task lead, participation in WP12, 14,15, and 20,
coordinator of CEF actions linked to Endo-ERN.
prof. dr. Franz Schäfer
WP2, leader, EB
(co)Chair of ERN-RWG, ERKNet coordinator
EJP RD Pillar 2 co-lead, WP13 co-lead, WP17 task lead,
contributor to WPs 1-5, 11,12,16,20), coordinator ERKReg,
European Rare Kidney Disease Registry, IT4ERKNet (CEF
action) coordinator, IMI-2 connect4children participant
dr. Eduardo López Granados
WP2, leader, EB
(co)Chair of ERN-RWG, and chair of the ERN-RWG registry
Task Force, ERN-TransplantChild coordinator, EJP RD
participant in WP10, 16 and 20, CEF actions linked to
TransplantChild, coordinator of the Paediatric European
Transplantation Registry (PETER).
Mar Mañú Pereira PhD, MSc
WP3, leader, EB
Involved at coordination level of ERN-EuroBloodNet by
agreement with its coordinator AP-HP, coordinator ENROL, the
European Rare Blood Disorders Platform for registries
dr. Ana Rath
WP3, leader, EB
Coordinator of the OrphanetWork Direct Grant [831390] and of
the RD-CODE project [826607]. Participation in EJP RD
(WP1,2,5,10,11,13,14, 16 and P2 coordinator); SOLVE-RD and
RARE 2030
dr. Luca Sangiorgi
WP4, leader, EB
(co)Chair of ERN-RWG, ERN BOND coordinator, coordinator
CEF actions linked to ERN BOND, participation in EJP RD
(WP 14 and 20). ERN liaison officer at EMA. Participation in
the constitution of RD-section of BBMRI and co-lead of the
national RD-working group. Coordinator of the Telethon
Network of Genetic Biobanks (Network of Italian RD-biobanks.
prof. dr. Ralf-Dieter Hilgers
WP4, leader, EB
Strong connection to ERN RARE-Liver and Endo-ERN. EJP
RD co-lead of WP20 and former coordinator of the FP7 funded
IDeAl project.
prof. dr. Ruth Ladenstein
WP5, leader, EB
ERN-PaedCan coordinator, EJP RD participation in WP11,
WP14, WP16, WP18, CEF action linked to ERN PaedCan and
in the PARTNER (777336) project, developing a dedicated
registry for very rare paediatric tumours
Anton Ussi MSc
WP5, leader, EB
EJP RD participation in WP3, 8, 19 & 20, participation in all
WPs in IMI2 project EU-PEARL, developing Master Protocols platform trials including rare diseases; coordinator of ADVANCE, an Erasmus Plus project providing educational
activities for advanced therapy development; is a partner in EOSC-LIFE, developing cloud solutions for academic research;
Coordinator of EATRIS-PLUS, an infrastructure project
developing tools and services for high quality multi-omics
research.
prof. dr. Maurizio Scarpa
WP6, leader, EB
MetabERN coordinator, Chair of the ERNCG Knowledge
Generation WG, EJP RD participation in WP 19 and 20, the
Rare2030 program on rare disease policy making, the C4C
program on Paediatric clinical trial and the U-IMD, the unified
registry for metabolic diseases.
Advisory Board
assoc. prof. Birute Tumiene MD, PhD
ALL, Advisory Board: Strategic
Representing: BoMS, ERN Board of Member States
prof. Eileen Treacy MD
ALL, Advisory Board: Strategic
Representing: BoMS, Ireland
prof. Katarzyna Kotulska-Jozwiak MD
ALL, Advisory Board: Strategic
Representing: BoMS, Poland
Simona Martin MD, PhD
ALL, Advisory Board: Strategic
Representing: JRC, Joint Research Centre
dr. David Pearce
ALL, Advisory Board: Strategic
Representing: IRDiRC, International Rare Disease Research Consortium
Daria Julkowska PhD
ALL, Advisory Board: Strategic
Representing: EJP RD, European Joint Programme on Rare Diseases
Rima Nabbout MD, PhD
ALL, Advisory Board: Strategic
Representing: EJP RD, European Joint Programme on Rare Diseases
Dimitrios Athanasiou BA, MBA
ALL, Advisory Board: Strategic
Representing: EPF, European Patient's Forum
Kristina Larsson MSc
WP4, Advisory Board: Regulatory
Representing: EMA, European Medicines Agency
prof. Mark Turner MD, PhD
WP4, Advisory Board: Strategic
Representing: c4c, the Collaborative Network for European Clinical Trials For Children (conect4children, c4c)
Tiina Urv PhD
ALL, Advisory Board: Strategic
Representing: the Rare Diseases Clinical Research Network (RDCRN), Division of Rare Diseases Research Innovation (DRDRI)NIH, USA
Bruno Sepodes PharmD, MSc, PhD, MPH
WP4, Advisory Board: Regulatory
Representing: NCA-CHMP, National Competent Authorities-Committee for Medicinal Products for Human Use
Victor Maertens
WP5, Advisory Board: Innovation
Representing: EUCOPE, the European Confederation of Pharmaceutical Entrepreneurs
dr. Claire Skentelbery
WP5, Advisory Board: Innovation
Representing: EuropaBio, The European Association for Bioindustries
Giedre Kvedaraviciene PhD
WP5, Advisory Board: Innovation
Representing: COCIR, COCIR, he European Trade Association representing the medical imaging, radiotherapy, health ICT and electromedical industries.
Jesús Rueda Rodríguez MSc
WP5, Advisory Board: Innovation
Representing: MedTech Europe, the European trade association for the medical technology industry including diagnostics, medical devices and digital health.
Matteo Scarabelli
WP5, Advisory Board: Innovation
Representing: EFPIA, European Federation of Pharmaceutical Industries and Associations