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European research



At the European level, working groups or virtual networks have been set up to facilitate the exchange of knowledge and experience and accelerate research. The mission of the European Reference Networks (ERNs) is to connect the various players involved in the management of patients with rare diseases with highly specialised centres. Thus, these groups make it possible to improve the diagnosis and treatment of patients, as well as the training of healthcare staff, regardless of the European country. Patient representatives are also involved in ERNs.

There are 24 ERN, each specialised in a disease or a small group of diseases.

Neurofibromatosis type 1 (NF1) belongs to the ERN group called ERN GENTURIS network specialised in the management of patients at risk of developing cancer, which can affect several organs. The management and follow-up of these patients differs from that of cancer patients without a genetic predisposition.

ERN GENTURIS has the following missions:

  • Improve the identification of patients at risk of developing a tumour.
  • Reduce the variability of clinical practice and follow-up criteria between the different centres.
  • Develop evidence-based recommendations.
  • Develop and use patient registries, biobanks, and research studies.
  • Define care pathways to facilitate access to specialised and internationally recognised clinical knowledge for patients and their families across the European Union.

The Neurofibromatosis referral centre also collaborates with the ERN-Skin specialized in rare skin diseases within the framework of NF1.

European Neurofibromatosis Group (ENFG)

European Neurofibromatosis Group (ENFG)
European NF group is a network in the European NF scene with an own identity, independent from other entities/institutions. It is a legal entity governed by Dutch public law having its official seat in Rotterdam, the Netherlands, and registered at the Dutch Chamber of Commerce under registration number 63770164. ENFG aims to:
  • Share knowledge of NF.
  • Initiate research of NF and outreach to other research consortia relevant for NF.
  • Support young clinicians and scientists.
  • Connect with lay groups.
Specific tasks are to:
  • Support the scientific content of the European NF meeting.
  • to make structured plan for collaborations (bigger cohorts, collective fund raising...).
  • Clinical and scientific board (for interaction with industry, case rounds...).
ENFG organization Steeringcommittee (rotating position for 4 years):
  • Chair.
  • Secretary.
  • Liaison with lay group.
  • Liaison with European meeting.
  • Scientific liaison.
  • Liaison with other stakeholders (e.g. ERN GENTURIS, CCAB CTF Europe, research consortia).
  • Steering committee.
  • One representative of a lay group.
  • One representative of each country.
Members Health care professionals and researchers within the Neurofibromatosis scene, from European institutions (There are no limitations of borders, or membership to other entities). We consider two type of members:
  • Expert members: researchers or clinicians that are long term involved in NF patient care and/or research with scientific output, are involved in promoting NF health care and are ambassadors for NF to other stakeholders.
  • General members: those who are due to their current position temporary involved in NF care or those who are collaborators in studies without the main focus on NF for an indefinite period.
  • Board meetings twice a year (virtual).
  • Steering committee meets additionally twice a year (added to board meetings) (virtual).
  • General meeting (open for all members) once in 2 years (during European meeting), and optional during an international NF meeting (annually).

ENFG Steering committee members

Rianne Oostenbrink, Pediatrician Erasmus MC Rotterdam, NL.

Laura Fertitta, Dermatologist, Academic Henri Mondor Hospital, INSERM, Créteil, FR.

Lay group liaison

Enrico Opocher, University of Padova, IT.

 Scientific liaison

Ignacio Blanco (clinical science), Hospital Universitari Germans Trias I Pujol, Barcelona, SP.
Hilde Brems (basic science), KU Leuven, BE. 

Liaison CTF Europe

Amedeo Azizi, Medical University of Vienna, AU. 


Rianne Oostenbrink/Ignacio Blanco.

Webmaster ENFG


Lay group representatives

Claas Rohl, NF Patient United, NF Kinder AU.

Country representatives

Vassallo Grace, Manchester University NHS FT, UK.
Pierre Wolkenstein, INSERM, Paris, FR.
Eric Legius, UZ Leuven, BE.
Juha Peltonen, University of Turku, FI.
Björn Sigurdsson, University of Lund, SW .
Cecile Rustad, NO.
Hector Salvador Hernandez Hospital Sant Joan de Deu, Barcelona, SP.
Amedeo Azizi, University Vienna, AU.
Walter Taal, Erasmus MC Rotterdam, NL.
Cecilie Ejerskov, Aarhus University Hospital, DK.
Eva Trevisson, University of Padova, IT.
Said Chosro Farschtschi, University Medical Center Hamburg, DE.
Marek Karwacki, Medical University of Warsaw University Clinical Center, PO.
Menelaos Pipis, Cyprus.
Ali Varan, Hacettepe University, Ankara, TU.