Personalising healthcare: How rare diseases pave the way

Wednesday, 4 October 2017 | 9.00-11.00 | Room 1

Organised by DG RTD, European Commission

Current efforts in personalised medicine are aimed at bringing scientific insights into the clinic to effectively identify disease and predisposition for disease, prescribe the right therapy and determine the right dose for the right patient, and to better deliver timely and targeted prevention. This session brings together all relevant stakeholders to exchange knowledge and develop strategies, policies and guidance that pave the way to personalised medicine in Europe, using rare diseases as a model.

Advances in genomics and other "omics" technologies have significantly improved our understanding of the pathogenesis of rare diseases. This has opened avenues for piloting new, personalised diagnostic methods and therapies. The impact of "omics" is reinforced by the combination of these data with Real-World Data (RWD). Notably, it has been recognised that large data sets of detailed phenotypes integrated with genetic data help adjust dosage and select therapy. RWD is also vital for post-authorisation evidence generation.

The blurred boundary between clinical care and research in rare diseases makes them an excellent candidate for piloting integrated bench-to-bedside pipelines to ensure the rapid translation of research findings into clinical support for personalised medicine.

This workshop will follow an interactive format supplemented with talks on rare diseases research and care in Europe, the use of "omics" and RWD, health data infrastructures and health data policy.

W3 Programme PDF

Personalised medicine - case videos

The case of Stephen and Caroline
The case of Jeannette

Session recording

EHFG 2017 webcasts

All sessions

Speakers & panellists

Interventions from

OLAF RIESS, NeurOmics Project Coordinator, University of Tübingen

AIN AAVIKSOO, Secretary General for E-services & Innovation, Ministry of Social Affairs, Estonia /also: ICPerMed Vice-Chair

MAURIZIO SCARPA, MD PhD Coordinator European Reference Network for Hereditary Metabolic Diseases

PÁLL JÓNSSON, Associate Director for Research and Development, National Institute for Health and Care Excellence (NICE)

VINCIANE PIRARD, Senior Director Public Affairs Specialty Care - Europe, SANOFI Genzyme

TERJE PEETSO, Head of Sector eHealth & Ageing policy, DG CONNECT, European Commission


IRENE NORSTEDT, Head of Innovative and Personalised Medicine Unit, DG RTD, European Commission

Biographical information

NameAaviksoo, Ain
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NameJónsson, Páll
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NameNorstedt, Irene
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NamePeetso, Terje
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NamePirard, Vinciane
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NameRiess, Olaf
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NameScarpa, Maurizio
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