Rare diseases

Results of the consultation regarding European action on rare diseases


We wish to thank all those who responded to the consultation, and will take all the responses to the consultation into account in future work. The Commission plans to bring forward specific proposals for addressing these issues later in 2008.

arrowPatients and their families
arrowNational patient organisations
arrowInternational patient organisations
arrowMember states (national authorities)
arrowInternational and European organisations
arrowCommercial organisations, companies and their associations
arrowUniversities and other experts
arrowReference centres
arrowResearchers
arrowOthers

Patients and their families


  Stakeholder Function Organisation Country Date
R-003 Dominique Joux     FR 29.11.2007
R-008  Fabrizio Gavazza     IT 03.12.2007
R-015        ES 18.12.2007
R-017  Marielle lacaut     FR 19.12.2007
R-021  Danielle et Jean Miron     FR 23.12.2007
R-022        ES 24.12.2007
R-024  M. PICAMAL René     FR 28.12.2007
R-025  Merja Vuori     FI 29.12.2007
R-026 Vania Dobreva     BG 01.01.2008
R-027  Claudine Goze-weber     FR 03.01.2008
R-029        IT 07.01.2008
R-031          13.01.2008
R-043  Francesco Tomasello     IT 18.01.2008
R-046  Sylvie Hulin     FR 19.01.2008
R-057  Anna Jakubowska     PL 25.01.2008
R-059  Zofia Smorga     PL 26.01.2008
R-060  Fargeas Nadia     FR 26.01.2008
R-068  M. et Mme Leroy     FR 29.01.2008
R-069  Christiane Lupo     FR 30.01.2008
R-071  José Henrique     PT 30.01.2008
R-088  Lucia Lamonarca     IT 04.02.2008
R-097  Mr et Mme Pichon de Bury     FR 05.02.2008
R-101  Anne et Christian Marguillier     FR 05.02.2008
R-129  Rea Bernardino     IT 08.02.2008
R-143  Jean Rodrigues     FR 10.02.2008
R-144  Sabine et Thierry Canepa
Yvette et Claude Fau
    FR 10.02.2008
R-146  Marie-Marguerite Haeffele     FR 11.02.2008
R-164  Roland Bigey     FR 11.02.2008
R-166  Sylwia W?grzynowska     PL 11.02.2008
R-176  Sophie Heilbrunn     FR 12.02.2008
R-182  Catherine Tarel-Berlemont     FR 12.02.2008
R-192  Jolanta Kuc     PL 12.02.2008
R-200  Leszek Musz     PL 12.02.2008
R-207  Renata Chrusciel     PL 12.02.2008
R-215  Josiane Berset     CH 15.02.2008
R-220  Mireille Santacreu     FR 15.02.2008
R-227 Mary Dorothy Clarke     UK 15.02.2008
R-229  Evelyne Sheffey     FR 15.02.2008
R-244  Céline Heintze   l'association HTAP France FR 13.02.2008
R-248  Monika D?mbska     PL 13.02.2008
R-265  Paolo Camagni     IY 13.02.2008
R-283  Mariolina Barbera     IT 13.02.2008
R-287  Isabelle Meurant     CH 13.02.2008
R-292  Liisa and Jari-Matti Vuorio     FI 13.02.2008
R-320  Marlène Rosset       14.02.2008
R-328  Alice Miron     FR 14.02.2008
R-338 Taina Hickey     FI 14.02.2008
R-340  Agnieszka i Edmund Fary?     PL 14.02.2008
R-387  Violette Devanthery     FR 14.02.2008
R-397  Nadine Truffy     FR 14.02.2008
R-399  Axel van der Mersch     LU 14.02.2008
R-410  Isabel Jiménez     ES 14.02.2008
R-414  Sarah Cornaz     FR 14.02.2008






National patient organisations


  Stakeholder Function Organisation Country Date
R-001  Arsène Losson Vice-Président Association HNPCC France FR 26.11.2007
R-002  Françoise PRAT   AMADYS FR 28.11.2007
R-005  Nicole Baraton   AMADYS FR 30.11.2007
R-011  Jurado Chacón President Asociación Andaluza de Pacientes con Síndrome de Tourette y Trastornos Asociados ES 08.12.2007
R-016  Michelle Gonsalves President of FLAM Association FLAM (France Lymphangio- léiomyomatose) FR 19.12.2007
R-030 Helga Süli-Vargha DSc Chairman Hungarian VHL Society HU 07.01.2008
R-031  Dr. Andreas Bächli President Schweizerischen Prader-Willi-Syndrom-Vereinigung CH 12.01.2008
R-033      Federación de Ataxias de España ES 14.01.2008
R-034  Gilbert Fuzillier President l'AFPCA = Association Francophone contre la Polychondrite Atrophiante FR 14.01.2008
R-036 Stephanie S., Weinreich, Ph. D., Marcel Timmen Research advocacy officer General Director Dutch Association for Neuromuscutar Diseases NL 07.01.2008
R-039       AMPASTTA (Asociación Madrileña de Pacientes con Síndrome de Gilles de la Tourette y Trastornos Asociados ES 15.01.2008
R-041 Dan Dorica President RPWA/ ANBRaRo Romanian National Alliance for Rare Diseases - RONARD RO 16.01.2008
R-042  Nicole Champavier President Association de l'Ostéogenèse Imparfaite FR 16.01.2008
R-044      A . F . M . B . D Association Française de la Maladie de Blackfan Diamond FR 18.01.2008
R-048  Ursula Huffer Corporate director A . F . M . B . D HAE e.V. Deutschland DE 21.01.2008
R-049  Balthasar Schaap   Autosomaal Dominante Cerebellaire Ataxie Vereniging Nederland NL 21.01.2008
R-052  M-A Voelckel (PhD-MPCG) President l'AFCG - l'Association Française des Conseillers en Génétique (AFCG)/ Département de Génétique Médicale Hôpital d'Enfants de la Timone FR 23.01.2008
R-057  Donatella e Marco Sessa   L’A.I.S.Ac. Associazione per l’Informazione e lo Studio sulla Acondroplasia IT 24.01.2008
R-058  Le bureau de l'AFSED   Association Française des Syndromes d’Ehlers-Danlos A.F.S.E.D FR 25.01.2008
R-062  Francoise Sarret   Association pour la Prévention, le Traitement et l’Etude des Polyposes Familiales FR 27.01.2008
R-072      Junta directiva de la Asociación Galega de Ataxias ES 30.01.2008
R-073      Associazione MIA Onlus Associazione Italiana Miastenia Onlus. IT 30.01.2008
R-074  David Abeln Chairman Dutch PKU association Nederlandse Phenylketonurie Vereniging NL 31.01.2008
R-075  Sven Fandrup Chairman Immunodeficiency Association, Denmark DK 31.01.2008
R-081  Eva Hütter & Gerald Fischer   Selbsthilfegruppe Lungenhochdruck DE 01.02.2008
R-085  Adeltraud Müller Leiterin Selbsthilfegruppe "Leben mit Behcet – Deutschland" DE 03.02.2008
R-087 Bodil Davidsen Social worker Landsforeningen for Marfan Syndrom DK 04.02.2008
R-089  Inès de Leudeville President Association Gêniris FR 04.02.2008
R-091 Dr Amy Hunter Senior Policy and Research Manager Genetic Interest Group UK 04.02.2008
R-092  Luc et Rosie Matthysen   HTAP Belgique Hypertension artérielle Pulmonaire BE 04.02.2008
R-093  Christine Jurvillier   AMADYS : Association des Malades Atteints de DYStonie FR 04.02.2008
R-100 D.Stoyanov Chairman Association of the Acromegaly Diseased in Bulgaria – "Hope for life" BG 05.02.2008
R-103  Thomas Heuyer Délégué général Maladies Rares Info Services Chargé de la communication de la Plateforme Maladies Rares FR 06.02.2008
R-105  FEDER Comunidad Valenciana   Headquarters of the Spanish Federation of Rare Diseases in Valencia ES 07.02.2008
R-109  Lydia Debar President Association Histiocytose France FR 07.02.2008
R-113  Nuria Belén Aguilera Arenas Psicóloga Asociación Andaluza contra la Fibrosis Quística   07.02.2008
R-115 Alan Summerside Development Director The Thalidomide Trust UK 08.02.2008
R-116  Roman Michalik
Maciej Czy?
  Stowarzyszenie rodzin z chorob? fabry'ego PL 08.02.2008
R-118  Jean-Marc Lallemand President ADCP – L'Association de patients ayant Dyskinesie Ciliaire Primitive FR 05.02.2008
R-122  Philippe BRUN President ASSYMCAL – Association des Malades Porteurs du Symdrome de McCune-Albright de Dysplasie Fibreuse des Os FR 29.01.2008
R-123  Claudine GRANCHER
Daniele JACQUES
President
Secretary
Association Francaise des Fibromyalgiques FR 29.01.2008
R-124  Valerie PROISY President Association Syndrome de Wiliams Midi-Pyrenees & Languedoc Roussillon FR 30.01.2008
R-125  Jeannine FINET   Association "SURRENALES" FR 01.02.2008
R-130  Mr Raymond SOUQUI Vice-président de l'association Association "SURRENALES" FR 01.02.2008
R-132  Dr.ssa Anna Maria Nardi
Prof.Pierluigi Zoccolotti
President
Vice-President
L’Associazione "IL CIGNO" Onlus IT 08.02.2008
R-133  B. Piastra President L'ASSOCIATION - Wegener Infos et Vascularites FR 08.02.2008
R-134  Jean-Marc Pittoni President Association des Malades d’Algies Pudendales FR 08.02.2008
R-138  Danielle Montfort   Association AMADYS-LFCD FR 09.02.2008
R-139  Paulette Morin President Association Française du Syndrome de Marfan FR 09.02.2008
R-141  Leszek Michalik   Stowarzyszenie Rodzin zChorob? Fabry'ego PL 10.02.2008
R-142  Wioleta ?abno   Stowarzyszenie Chorych na MPS i Choroby Rzadkie PL 10.02.2008
R-145  Vinciane Berckmans Présidente H.A.E. Belgium (Hereditary AngioEdema) BE 10.02.2008
R-150  Juliette Dieusaert   AFAF FR 11.02.2008
R-152  Sandrine Lefebvre Secrétariat AFH Association Française des Hémophiles FR 11.02.2008
R-153  Krzysztof Bajer   Stowarzyszenie Chorych na MPS i Choroby Rzadkie PL 10.02.2008
R-157  Christiane Karakoglou Vice-présidente l’AFPCA (association francophone contre la Polychondrite Chronique Atrophiante) FR 11.02.2008
R-158  Malgorzata Kaflik   Polish Society of MPS and Related Diseases PL 11.02.2008
R-162  Melanie Gallant-Dewavrin Director HTAPFrance FR 11.02.2008
R-163  Gérard Brebant Member Association ASTB FR 11.02.2008
R-165  Chantal Lecerf Member Association de Malades Atteints de DYStonie (AMADYS-LFCD) FR 11.02.2008
R-167  Judith Hamann Vorsitzende Elternhilfe für Kinder mit Rett-Syndrom in Deutschland e.V DE 11.02.2008
R-168 Britt Leopold Executive director The Swedish Cystic Fibrosis Association SU 11.02.2008
R-169  Philippe Duvivier   Association Française autour des Arthrogryposes (Alliance Arthrogrypose) FR 11.02.2008
R-170  Jonathan Cottignies President A.A.D.C FR 11.02.2008
R-172  Birgit Dembski Manager for health policy and therapeutic support German Cystic Fibrosis association DE 11.02.2008
R-174a
R-174b
Torben Grønnebæk Chairman The Danish Wilson Patient Association DA 12.02.2008
R-175  Micheline Detour Secretary ASL FR 12.02.2008
R-177  Aneta Trochimiuk   Stowarzyszenie Chorych na Mukopolisacharydoz? i Choroby Pokrewne PL 12.02.2008
R-178  Maria Widalska   Stowarzyszenie Chorych na Mukopolisacharydoz? i Choroby Pokrewne PL 12.02.2008
R-183 Johannes Flensted-Jensen
Charlotte Fuglsang
President
CEO
Danmarks Lungeforening DK 12.02.2008
R-184  Claude Fiévet Vice- Président
CEO
HTAP FRANCE - Hypertension Artérielle Pulmonaire FR 12.02.2008
R-185  Catherine Faou Présidente
CEO
AFGS - l'Association Française du Gougerot Sjögren et des syndromes secs FR 12.02.2008
R-186  Martine Colmant Présidente
CEO
AFGS - l'Association Française du Gougerot Sjögren et des syndromes secs FR 12.02.2008
R-188  Dr. Philippe Hanriat Secrétaire A.SL Association Strümpell-Lorrain (HSP-France) FR 12.02.2008
R-189  Christophe Duguet   Association Française contre les Myopathies (French Muscular Dystrophy Association) FR 12.02.2008
R-190  Pawe? Wójtowicz Prezes Zarz?du Fundacja Pomocy Rodzinom i Chorym na Mukowiscydoz? MATIO PL 12.02.2008
R-193 Ron Overton Director Rett Syndrome Association UK UK 12.02.2008
R-196  Maria Kopecka   Stowarzyszenie Chorych na Mukopolisacharydoz? i Choroby Pokrewne PL 12.02.2008
R-197  Françoise Antonini Déléguée Générale Alliance Maladies Rares - Plateforme Maladies Rares FR 12.02.2008
R-199  Isabelle Marchetti-Waternaux President Association de Porteurs d'Anomalies Chromosomiques FR 11.01.2008
R-204  Jean-Paul Gagnère Président Association suisse-romande pour le syndrome Gilles de la Tourette CH 12.02.2008
R-205  Rosa Sánchez de Vega President FEDER - Federación Española De Enfermedades Raras (Spanish Alliance for Rare Diseases) ES 12.02.2008
R-208 Vladimir Tomov   National Alliance of People with Rare Diseases - Bulgaria   12.02.2008
R-209 Jane Stanton-Roberts Secretary The Dancing Eye Syndrome support trust in the UK UK 12.02.2008
R-210  Francois Hafner President Association Nationale Spina Bifida Handicaps Associés FR 19.02.2008
R-211  Christian Foucaux President Prader-Willi France FR 15.02.2008
R-213  Denise Laporte   A.F.S.A. Presidence – l'Assosiation Francophone du Syndrome d'Angelman FR 15.02.2008
R-217  Lea Fallourd   Ligue contre Myopathie FR 15.02.2008
R-219  Jean-Pierre Blois President Association Strumpell-Lorrain FR 15.02.2008
R-222  Pierrette Grange President Les Feux Follets FR 15.02.2008
R-223 Prof. Michel Roussey President AFDPHE – Association Francaise pour le Depistage et la Prevention de Handicaps de l'Enfant FR 15.02.2008
R-226  Claudine Coline President Association Surrenales FR 15.02.2008
R-232  Françoise Tissot President Association contre les Maladies Mitochondriales FR 15.02.2008
R-233 Cor Oosterwijk Director VSOP – Dutch genetic alliance NL 15.02.2008
R-235  Jerome Ries Rechtsanwalt Bundesverband Kleinwunschige Menschen und ihre Familien e.V. DE 15.02.2008
R-236 Torben Grønnebæk,
Lene Jensen
President
CEO
Rare Disorders Denmark DE 13.02.2008
R-237  Les membres du bureau d’AVML   Association Vivre Mieux le Lymphœdème FR 13.02.2008
R-241  Delacombaz Léon Président APEP - Association de Parents d’Enfants Phénylcétonuriques CH 13.02.2008
R-242  Etienne Hameau Président de France Lafora Association France LAFORA FR 13.02.2008
R-243 Lykke Rehder Chairman The Danish Ehlers-Danlos Society DK 13.02.2008
R-245  Elisabeth Wallenius President Swedish Association of Rare Disorders SU 13.02.2008
R-247 Dr. Rainald von Gizycki
Dr. Claus Gehrig
Chairman Pro Retina Deutschland e.V. DE 13.02.2008
R-249 H.K. Meutgeert Executive Director VKS - Dutch Umbrella organization for metabolic diseases NL 13.02.2008
R-250 William C Owen   Niemann-Pick Disease Group UK 13.02.2008
R-255  Stella Peckary   Österreichische Rett-Syndrom Gesellschaft DE 13.02.2008
R-258  Merja Monto Coordinator Finnish Association of People with Mobility Disabilities (FMD) Unit of Unknown and Rare Groups - Lahti Rehabilitation Centre FI 13.02.2008
R-262 Marianna Lambrou President Greek Alliance for Rare Diseases and Tuberous Sclerosis Association of Greece GR 13.02.2008
R-267 Hartmut Fels   ACHSE e.V. - Allianz Chronischer Seltener Erkrankungen - German Alliance for Rare Diseases – c/o DRK-Kliniken Westend DE 13.02.2008
R-268  Leila Raninen   Finnish Marfan Association FI 13.02.2008
R-269 Helena Ylikyla-Leiva Chief Executive officer The Finnish MS Society FI 11.02.2008
R-270  Mette Spangsberg   Danish Association of Dystonia DA 13.02.2008
R-271 Dr Janet Maxwell PH Consultant SW SCG UK 13.02.2008
R-272 Annie Brønnum   Hjerteforeningen - Danish Heart Foundation DA 13.02.2008
R-275  Martine Gaudy Administrateur à l’AFSR Association française du syndrome de Rett FR 13.02.2008
R-281      Association du syndrome de Williams et Beuren - Ile de France FR 13.02.2008
R-285  Gilles Boustany Directeur général Fédération des Maladies Orphelines FR 13.02.2008
R-286 Dr Susan Walker-Date Vice Chair Rett Syndrome Association UK UK 13.02.2008
R-289  Olivier de Compiègne Président Xtraordinaire FR 13.02.2008
R-290  Bianca Piantanida Pizzera Segretario AIP Associazione immunodeficienze primitive- onlus IT 13.02.2008
R-293 Beate Rasp and Eva Kitir   German Morbus Wilson patient organisation DE 13.02.2008
R-294  Gabor Pogany Ph.D. Executive vice president HUFERDIS Hungarian Federation of People with Rare and Congenital Diseases - Rare Diseases Hungary HU 13.02.2008
R-295 Tiffany House, BA, MA Director AMDA is a national Pompe disease patient organization USA 13.02.2008
R-296  Csató Zsuzsa Csupaszívek Társasága   The Opinion of the Hungarian Society of People with Golden Heart HU 13.02.2008
R-297  Pné Bojtor Zsuzsanna elnök, MWSzT Hungarian Williams Syndrome Association HU 13.02.2008
R-298  Stanis?aw Ma?kowiak Prezes Federacja Pacjentów Polskich PL 13.02.2008
R-299  Miguel Ángel
Rodrigo Jiménez
  Delegado en Catalunya de SIMA ES 13.02.2008
R-300  Giorgio Pioli Presidente Associazione Intolleranza Fruttosio Onlus (AIF Onlus) IT 13.02.2008
R-301  Ulrike Holzer Stellvertr. Vorsitzende Selbsthilfegruppe Ektodermale Dysplasie e.V. DE 13.02.2008
R-302      Association Autour des Williams FR 14.02.2008
R-312  Christian Ballouard Président Association VASI (Vaincre l’Adénylo Succinase par l’Information) FR 14.02.2008
R-313     Myeloma UK UK 14.02.2008
R-315     Assessorato alla Sanità – Direzione Piani e Programmi Socio Sanitari IT 14.02.2008
R-317  Cinzia Sacchetti President Nazionale A.Fa.D.O.C. onlus associazione famiglie di soggetti con deficit di ormone della crescita ed altre patologie IT 14.02.2008
R-318  Olivia Niclas President Association Française des Dysplasies Ectodermiques FR 14.02.2008
R-321  François Lefebvre President Association Française du Syndrome de Gilles de La Tourette (AFSGT) FR 14.02.2008
R-326 Kaarina Laine-Häikiö Managing Director The Finnish Rheumatism Association FI 14.02.2008
R-333 Mogens Brandt Clausen
Birthe Byskov Holm,
chair
vicechair
Danish Ostegenesis Imperfecta Society DA 14.02.2008
R-344      Debra Belgium VZW BE 14.02.2008
R-348  Claudie Durand Member Association Sclérose Tubéreuse de Bourneville (ASTB) FR 14.02.2008
R-352  Dr. Lucia Monaco Chief Scientific Officer Fondazione Telethon IT 14.02.2008
R-358  Jacques Monnet President Association Incontinentia Pigmenti France FR 14.02.2008
R-359  Jean Lafond President Vaincre la Mucoviscidose FR 14.02.2008
R-369  Maria Elisabetta Villa   Gruppo di Sostegno DBA Italia Onlus IT 14.02.2008
R-371  Dott.ssa Annapia Verri   IRCCS. Fondazione Istituto Neurologico C. Mondino IT 14.02.2008
R-377  Pavel Seeman - steering committee of CMT Czech Republic   Patient organisation Charcot Marie Tooth Association CZ 14.02.2008
R-380  Kostas Theodosakis President Hellenic Cystic Fibrosis Association GR 14.02.2008
R-382  Sari Tervonen Toiminnanjohtaja Epilepsialiitto ry FI 14.02.2008
R-386  Laure Camborieux Présidente Association MAIA
Soutien aux couples infertiles Association Nationale
FR 14.02.2008
R-390    Présidente Association Marie-Thérèse MERNY FR 14.02.2008
R-391  Dr. Paola Zotti President DEBRA Italy IT 14.02.2008
R-392  Marie-Françoise Méresse Déléguée Régionale Alliance Maladies Rares pour la Champagne-Ardenne et de Prader-Willi France pour Champagne-Ardenne et Nord-Picardie FR 14.02.2008
R-393  Gerd Ulrich Heuer Mitglied Bundesselbst-hilfevereinigung 'Multiple kartilaginäre Exostosen (Osteochondrome)' e.V DE 14.02.2008
R-395  Dr. rer. nat. Bernd Quadder President Deutsche Sarkoidose-Vereinigung e.V. - German Sarcoidosis Association DE 14.02.2008
R-398     Rett Syndrome Association UK UK 14.02.2008
R-400  Françoise Tissot   AMMi - Association contre les maladies mitochondriales française FR 14.02.2008
R-401      ANPSA FR 14.02.2008
R-411 Corinne Lagrafeuil President Association Polykystose France - French Chapter of the PKD Foundation FR 14.02.2008
R-412 M. Giuseppe Pajardi President Aidweb IT 14.02.2008
R-415 Natalija Stošicki President Slovenian PKU Association SL 14.02.2008
R-417  Christine Chirossel (parent et adhérent- délégué régional)
Christel Nourrissier
President Association Prader Willi France
Eurordis/Prader Willi France
FR 18.02.2008
R-425 Stamatina Manolias Member of the board of directors of the association Association of people with genetic disorders "To Mellon" GR 19.02.2008
R-433  Jose Marty President A.M.A.R.M.Y.U.L. – Association Maladie Rare Myoclonique Unverricht Lundborg FR 15.02.2008
R-435 Teija Salokorpi Member Finnish network of RD patients organisations FI 17.02.2008
R-436  Dott Fabrizio Seidita President AIG – Associazone Italiana Glicegonosi, Associazione di Volontariato ONLUS di Diritto IT 17.02.2008
R-437      Comite de Liaison et d'Action des Parents d'Enfants et d'Adultes FR 28.02.2008
R-441  Nathalie Triclin President Association Des Patients de la Maladie de Fabry FR 28.02.2008
R-442  Christine Perrier   AVML - Association Vivre Mieux le Lymphoedeme FR 28.02.2008
R-443  PD Dr. med. Martin Merkel
Prof. Dr. med. Stephan vom Dahl
Vorsitzender der ASIM
Prasident der ASIM 2009
     
R-444  Le bureau AVLM   Association AVML - Association Vivre Mieux le Lymphoedeme FR 28.02.2008
R-445  Bettina Vogel   Groupe de Travail Maladies Rar LU 21.02.2008
R-447  Maciej Czy?   Stowarzyszenie rodzin z chorob? fabry'ego PL 08.02.2008
R-448  Ewa Rogozi?ska   Stowarzyszenie rodzin z chorob? fabry'ego PL 08.02.2008
R-449 
R-449b 
R-449 
Anna Winska
Piotr Szulc
Agniszka Szulc
  Stowarzyszenie Chorych na Mukopolisacharydoz? i Choroby Pokrewne PL 14.02.2008
R-450  Pawel Oswiecinski   Stowarzyszenie Rodzin z Choroba Gauchera PL 14.02.2008
R-451  Pawel Chor??y   Fundacja Gajusz PL 14.02.2008
R-452  Dorota Nawrot Rudnicka
Jan Kawalec
  Stowarzyszenie Marfan Polska PL 14.02.2008
R-459  Iwona Ziobro-Boro?, Teresa Zajda, S?awomir Weihs, Krzysztof Wiktor, Wac?awa Werpachowska, Lidia Witos, Aleksandra Truskolawska, Ma?gorzata Tomaszczyk, Katarzyna Topuszek, Monika So?tysik, Marta Stefanek, Wies?awa Stankiewicz, Michal Rzepka, Renata Gwozdowska-Rutka, Renata Ruci?ska, Marta ?ukasik, Agnieszka Pietrucha, Adam Pawlikowski, Hanna Pinkowska, Iwona Ostrowska, Barbara Nowicka, Renata Michalik, Magdalena Maciejewska-Sordyl, Agnieszka Mokrzycka, Ma?gorzata Magowska, Mariola Milewska, Marek Libera, Anna Lamprycht, Krzysztofa Laska, Ma?gorzata Ku?, A. Kost, Jan Krzy?ko, J. Kulisiak-Ka?mierczak, A. Korajda, Ewa Juskowiak-Krystkowiak, M. Kulesza, D. Komejsza, J. Jab?o?ski, B. Julkowska, C. Jopek, A. Jarz?cka, M. J?drzejewski, V. Jagie??o, A. Garczowska, A. Grzenkowicz, B. Dombrzalski, A. Dropi?ski, K. Cicha, Z. Czerska, J. Binkiewicz, M. Bie?, A. Bargman, B. Baranowska, T. Szymczak-Idziak, U. Czarnota, E. Sikora, T. Ma?kowiak, M. Matczak, R. Maciejewski, H. Maciejewska   Stowarzyszenie na Rzecz Dzieci z Zaburzeniami Genetycznymi "GEN" PL 14.02.2008
R-460 
R-460b 
R-460c 
K. Kapturczak-Zakrzewska, E. Czekalska, D. Reczy?ska, A. Roma?ska, K. Mazurkiewicz, B. KAPTURCZAK, Teresa Matulka, Justyna Matulka, Anna Pruszy?ska, Krzysztof Santarek, Janusz Sztankiewicz, A. Santarek, K. SOSINSKI, W. SOSINSKA, B. SOSINSKA, P. SZTANKIEWICZ, N. Piechoci?ska, B. KAPTURCZAK, M. MUSIELAK, Ewa Molik, Jolanta Szcezesnik, A. Bozek   MPS I Choroby Rzadkie PL 14.02.2008






International patient organisations


  Stakeholder Function Organisation Country Date
R-004 Vitaliy Matyushenko President of Foundation Children with SMA UA 29.11.2007
R-014 Denis Strangman, Kathy Oliver IBTA Chair
IBTA Secretary
International Brain Tumor Aliance UK 16.12.2007
R-032 Professor Jean-Jacques Cassiman The coordinator EuroGentest - Center Human Genetics BE 14.12.2007
R-038 Dr WW de Herder, MD PhD the Chairman of ENETS ENETS, European Neuroendocrine Tumor Society   15.01.2008
R-051 Bruno Kopp President PHA Europe – Pulmonary Hypertension Association Europe DE 22.01.2008
R-055 Stuart Tanner Emeritus Professor of Paediatrics EuroWilson Consortium UK 24.01.2008
R-059  Jean Rialland EFAPH President EFAPH (European Federation of Association of Patients with Haemochromatosis)   26.01.2008
R-061 Paul Pyck FEWS secretary European Federation of all national associations of Williams Syndrome   27.01.2008
R-077 Lia van Ginneken-Noordman Secretary European Myeloma Platform (EMP) BE 31.01.2008
R-080 Laurence Warren President Alfa Europe Federation e.V - European Federation for Alpha1 Antitrypsin Deficiency IE 01.02.2008
R-083  Elsa Aimone   A.R.A.I.T - un’ associazione internazionale IT 01.02.2008
R-094 Robert Schäfer   Myeloma Euronet Secretariat   04.02.2008
R-098 Anna Kole Research Assistant RDTF Secretariat Orphanet   05.02.2008
R-107 Dr. Androulla Eleftheriou Executive Director Thalassaemia International Federation   07.02.2008
R-108  Karen AIACH President / Chairman Alliance SANFILIPPO   07.02.2008
R-111 Mitchell Messer / Ulrica Sterky President Cystic Fibrosis Worldwide   07.02.2008
R-114 David Watters Executive Director IPOPI - International Patient Organisation for Primary Immunodeficiencies   08.02.2008
R-116  Marie-Claude Boiteux President CUTIS LAXA Internationale   30.01.2008
R-119  Marie-France Zanetti President Association SCI (Syndrome de Cohen International)   05.02.2008
R-135  Anne Henrion   Association Neurofibromatoses et Recklinghausen FR 09.02.2008
R-137 Harald Niemann Vice Chairman GBS Initiative e.V. DE 09.02.2008
R-148 Paul A.N. Kok President EPOS - European Association of Patiënts Organisations of Sarcoïdosis and other Granulatumous Disorders NL 11.02.2008
R-149  Caroline van Heesewijk Vice President European Chromosome 11 Network NL 11.02.2008
R-151  Claude Andrieux Présidente Inflam'oeil FR 11.02.2008
R-161 Christina Fasser
Dr. Rainald von Gizycki
President Retina International   11.02.2008
R-173     Cystic Fibrosis Europe e.V.   12.02.2008
R-228  Claudine Goze-Weber   European Tarlov Cyst Alliance FR 15.02.2008
R-238 J.G.Loeber President ISNS - The International Society for Neonatal Screening   13.02.2008
R-251  Yvonne Jousten Présidente
Co-Fondatrice
Co-Fondatrice

Vice-Présidente
Association Belge du Syndrome de Marfan
European Marfan Support Network
International Federation of Marfan Syndrome Organisations RaDiOrg.Be
Rare Disorders Organisation Belgium
BE 13.02.2008
R-276 Tsveta Schyns, PhD Secretary General ENRAH - European Network for Research on Alternating Hemiplegia   13.02.2008
R-308 Stuart Elborn President European Cystic Fibrosis Society   14.02.2008
R-319      DEBRA Europe   14.02.2008
R-327 Séverine Trouillet   European Haemophilia Consortium EU representation office   14.02.2008
R-329 Helen Segura ENERCA Project Manager Hospital Clinic i Provincial de Barcelona   14.02.2008
R-335 Peter Streng Board member and representative on research and drug development EAMDA European Alliance of neuro-Muscular Disorders Associations MT 14.02.2008
R-351 Dr Philippe Swennen Project Manager Association Internationale de la Mutualité BE 14.02.2008
R-355 Yannis Vardakastanis President of EDF The European Disability Forum   14.02.2008
R-367 Peter Bakker behalf of the board, as delegated administrator of FESCA European federation of scleroderma associations, named FESCA   14.02.2008
R-388 Flaminia Macchia Bangsgaard Director for European Public Affairs EURORDIS - European Organisation for Rare Diseases FR 14.02.2008
R-430 Lieven Bauwens IF co-ordinator International Federation For Spina Bifida & Hydrocephalus BE 26.02.2008
R-439     European Tarlov Cyst Alliance BE 17.02.2008






Member states (national authorities)


  Stakeholder Function Organisation Country Date
R-082 Stephen Mifsud Health and Consumer Affairs Attaché Permanent Representation of Malta to the European Union MT 01.02.2008
R-218  Lisbeth Myhre Director, Rehabilitation and Rare Disorders Department Norwegian Directorate for Health and Social Affairs NO 15.02.2008
R-234  Drs. H.R. Hurts Director Ministerie van Volksgesondheid, Welzijn en Sport NL 16.02.2008
R-246  Marie-Aline Bloch Directeur scientifique Caisse nationale de solidarité pour l’autonomie FR 13.02.2008
R-279 S. van Weely, Ph.D. Scientific officer Dutch Steering Committee on Orphan Drugs NL 13.02.2008
R-316 Jenny-Lee Spencer Senior European Policy Manager NHS European Office - UK National Health Service UK 14.02.2008
R-325  Malte Enderlein Referent Europäische Gesundheitspolitik Deutsche Sozialversicherung Europavertretung DE 14.02.2008
R-354 Dr. Sándor János PhD (response from the workshop)   Hungarian Ministry of Health HU 14.02.2008
R-356 Zvezdana Veber-Hartman Head, EU Affairs and International Cooperation Service Ministrstvo za zdravje/Ministry of Health - Slovenia SL 14.02.2008
R-373 
+ Annex 
Dr Michel Rosenheim Conseiller technique Pôle politiques de santé et prévention Cabinet de la Ministre de la Santé, de la Jeunesse & des Sports FR 14.02.2008
R-419  Prof. Dr. med. Ch. Fuchs
i. A. Dr. med. F. Bäsler
  Bundesärztekammer Dezernat VI - Wissenschaft und Forschung DE 14.02.2008
R-421  Isabel de la Mata Health Counsellor Spanish Permanent Representation to the EU ES 19.02.2008
R-431  Frank Niggemeier, Ph. D. Head of Division "General Affairs of the EU, EU Coordination" Federal Ministry for Health of Germany DE 27.02.2008
R-432 John Rowan First Secretary (Health and Pharmaceuticals) United Kingdom Permanent Representation to the European Union UK 27.02.2008
R-440  Jakob Axel Nielsen
John Erik Pedersen
  Ministry Health Prevention DK 28.02.2008
R-461  Helène Dahl Fransson   Social department- Swedish Ministry of Health and Social Affairs SE 10.03.2008






International and European organisations


  Stakeholder Function Organisation Country Date
R-112 Prof. K.Westermark
Mrs B Holm
Dr S Aymé
(COMP Chairman) (COMP Vice-Chairman) (RDTF Chair) EMEA / Committee for Orphan Medicinal Products (COMP) FR 07.02.2008
R-154     Standing Committee of European Doctors (CPME)   11.02.2008
R-195     EuropaBio and EBE’s joint Taskforce on Orphan Medicinal Products   12.02.2008
R-225 Frank Boeye Chairman "Study group Brain Tumours Belgium" BE 15.02.2008
R-252 Ivana Silva Pharmaceutical & Professional Affairs Pharmaceutical Group of the European Union (PGEU) Representing European Community Pharmacists   13.02.2008
R-259 Francois Decaillet Senior adviser WHO-Regional Office for Europe   13.02.2008
R-366 Chris Dawson Liaison Officer ESIP European Social Insurance Platform and the Medicine Evaluation Committee (MEDEV) of the European Social Health Insurance Forum    
R-367 Pascal Garel Chief Executive HOPE European Hospital and Healthcare Federation   14.02.2008
R-375 Tobias S. Hagedorn Secretary of E.S.PKU E.S.PKU (European Society for Phenylketonuria and Allied Disorders treated as Phenylketonuria) DE 14.02.2008
R-394 Kathy Pritchard-Jones President, SIOP Europe Société Internationale d’Oncologie Pédiatrique en Europe   14.02.2008
R-396 Ute Wallentin OIFE President Osteogenesis Imperfecta Federation Europe (OIFE)   14.02.2008
R-404 Nanca Cebron Lipovec EPSA Public Health Working Committee Director European Pharmaceutical Students' Association (EPSA)   14.02.2008
R-406  Jan-Inge Henter   International Conference of Rare Diseases and Orphan Drugs SE 14.02.2008
R-408 Martina Cornel Chair Public and Professional Policy Committee of the European Society for Human Genetics NL 14.02.2008
R-423 Hildrun Sundseth Head of EU Policy European Cancer Patient Coalition BE 14.02.2008
R-426 Maria Brandao Consultant to EASL European Association for the Study of the Liver (EASL) CH 19.02.2008
R-429 Elisabeth Kasilingam Assistant Policy Officer European Patients' Forum BE 25.02.2008






Commercial organisations, companies and their associations


  Stakeholder Function Organisation Country Date
R-040 P. Dupuy, MD President Orfagen FR 15.01.2008
R-179 Eva Malong Sekretariat Forschung, Entwicklung & Innovation/Biotechnologie Verband forschender arzneimittelhersteller E.V. DE 12.02.2008
R-180 Leonardo Vingiani Managing Director Assobiotec - the Italian Association for Bioindustries IT 12.02.2008
R-191 Kevin Loth Director, Professional Relations Pharmion Ltd UK 12.02.2008
R-194 Dr. Karin Heidenreich Senior Public Affairs Manager Novartis European Public Affairs >BE 12.02.2008
R-201 Sebastian Johnson-Cadwell
Wills Hughes-Wilson
Katia Finck
Associate Director
Director
Director, Public Affairs & Market Access
BioMarin, Genzyme and Shire Human Genetic Therapies > 12.02.2008
R-202 Wills Hughes-Wilson Director, Health Policy Europe Genzyme   12.02.2008
R-212     Bundesverband Medizintechnologie e.V. - BVMed DE 15.02.2008
R-214  Dr. Kevin Loth Director, Professional relation Pharmion Ltd.   15.02.2008
R-257 Anna Ludwinek Public Affairs Executive Eucomed BE 13.02.2008
R-263 Vanessa Alfaro Ribeiro Project coordinator APBio - Associação Portuguesa de Bioindústrias PT 13.02.2008
R-277 Joseph Wildy EU Public Affairs Manager EuropaBio, the BIA European Biopharmaceutical Enterprises (EBE)   13.02.2008
R-280 Johan Prévot Assistant Director, Public Affairs PPTA Europe (Plasma Protein Therapeutics Association)   13.02.2008
R-311 Dr Richard Tiner Medical Director Association of the British Pharmaceutical Industry (ABPI) UK 13.02.2008
R-330 Jeanette Nenniger   F. Hoffmann-La Roche Ltd CH 14.02.2008
R-332 Ashish Agarwal Founder Director ONCO Life Sciences (India) IN 14.02.2008
R-350 Françoise Rossi Regulatory Strategy and Development Director LFB Biotechnologies FR 14.02.2008
R-360 Toon Digneffe Government Affairs & Public Policy Director, European Affairs Baxter BE 14.02.2008
R-362 Clare Hellowell Senior Administrative Assistant Government Affairs Gilead Sciences UK 14.02.2008
R-374 Raquel Álvarez Fernández Responsable de Soporte a Socios Secretaría General ASEBIO - Spanish Associated of Bioenterprises ES 14.02.2008
R-420 Katia Finck Director Public Affairs & Market Access Europe Shire Human Genetic Therapies (SHGT) ES 18.02.2008






Universities and other experts


  Stakeholder Function Organisation Country Date
R-012 Assoc. Prof. Ludovit Kádasi, D.Sc. President of SSMG Dept. Molecular Biology, Comenius University SK 13.12.2007
R-037  dott. Pietro Cavalli, MD   Servizio di Genetica Azienda Istituti Ospitalieri IT 15.01.2007
R-045 Prof. Milan Macek and Prof. Petr Goetz   Czech Society for Medical Genetics /University Hospital Motol and 2nd School of Medicine Charles University Prague CZ 18.01.2008
R-053 Sabine Krause, MD, PhD   Labor für Molekulare Myologie Friedrich-Baur-Institut Neurologische Klinik und Poliklinik Ludwig-Maximilians-Universität DE 23.01.2008
R-065  Mikael Rolfs   Socialdepartementet Sveriges regering Stockholm SE 07.01.2008
R-066  Pr. F. Gottrand   Clinique de Pédiatrie, CHRU de Lille, Faculté de Médecine, Université de Lille2 FR 29.01.2008
R-070  Prof. Bruno Dallapiccola Coordinatore del progetto Orphanet-Italia Genetista Medico - Istituto Mendel IT 30.01.2008
R-075  Pr Alain Verloes   Dept de Génétique, Hôpital R Debre FR 31.01.2008
R-090     Flemish Hospital Pharmacists BE 14.12.2007
R-099  Pr Arnaud Basdevant   Pôle d’Endocrinologie-Diabétologie-Nutrition- Métabiolisme Hôpital de la pitié salpêtrière Paris FR 05.02.2008
R-136 Luisa María Botella Staff Researcher of CSIC Spanish HHT unit ES 09.02.2008
R-106 Pr. Dian Donnai
Dr. Emma Gillaspy,
Dr Helen Middleton-Price,
Director, Nowgen, and Professor of Medical Genetics
Orphanet UK & Ireland, Nowgen
Director, Nowgen
University of Manchester UK 07.02.2008
R-110 Prof.dr. Cornelis Jakobs Head Metabolic Unit Dept Clinical Chemistry, PK 1X 014 VU University Medical Center Amsterdam NL 08.02.2008
R-120 Prof. dr. P.J.J. Sauer Head pf Department University Medical Center Groningen – Department of Pediatrics   05.02.2008
R-128 Dr. Stephen Lynn TREAT-NMD Project Manager Institute of Human Genetics Newcastle University EN 08.02.2008
R-140 Martina Cornel Dutch Orphanet project leader Orphanet NL 09.02.2008
R-155  Annie OLRY   Orphanet INSERM SC11 FR 11.02.2008
R-159 Prof. Dr. med. Joerg Schmidtke Direktor Institut fuer Humangenetik Medizinische Hochschule Hannover DE 11.02.2008
R-205  Jolanta Sykut-Cegielska, MD, PhD, Ass. Prof. Head of the Department of Metabolic Diseases, Endocrinology and Diabetology Children’s Memorial Health Institute PL 12.02.2008
R-221 Prof. Dr. Cornelis Jakobs Chairman of the SSIM The society for the study of inborn errors of Metabolism – VU University Medical Center Amsterdam NL 15.02.2008
R-230 M.D. Darin Niklas PhD Assistant Professor The Qeen Silvia Children's hospital, Neurology, Psychiatry SE 15.02.2008
R-231 Prof Dr Jos van Roosmalen Chairman of the national maternal mortality committee Leiden University Medical Centre, department of Obstretics NL 15.02.2008
R-254 Prof Philip D Mayne MD, FRCPI, FRCPath Director National Newborn Screening Laboratory - Childrens University Hospital, Limited Liability Company (Limited by Shares), Dublin. IE 13.02.2008
R-256 Priv.-Doz. Dr. Maggie Walter MD-NET Coordination and Information German Muscular Dystrophy Network
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik
DE 13.02.2008
R-260 Dr Jennifer J Kurinczuk
Dr Marian Knight
Deputy Director NPEU,
Clinical Director UKOSS (UK Obstetric Surveillance System)
Submitted on behalf of the EurOSS initiative by: National Perinatal Epidemiology Unit, University of Oxford, UK 13.02.2008
R-261 G. Pfliegler MD   Division Rare Diseases 2nd Dept. Med. University of Debrecen HU 13.02.2008
R-273  Riitta Salonen, MD, PhD Head of the Department Department of Medical Genetics Väestöliitto, Family Federation of Finland FI 13.02.2008
R-274 Prof Babill Stray-Pedersen Professor I University of Oslo, Faculty of Medicine Department of Obstetrics and Gynaecology, Rikshospitalet-Radiumhospitalet NO 12.03.2008
R-282 Prof. Dr. Paola Facchin MD PhD   Veneto Region Registry for Rare Diseases Epidemiology and Community Medicine Unit Paediatrics Department Padua University IT 13.02.2008
R-303  Prof. Wanda Kawalec   Department of Cardiology Children's Memorial Health Institute PL 14.02.2008
R-304 Sophie Duport, PhD Research Governance Manager The Royal Hospital for Neuro-disability UK 14.02.2008
R-305  Docteur Hubert JOURNEL   Généticien, pour le Groupe Folate France FR 14.02.2008
R-307 Prof. Dr. P.P. De Deyn
Prof. Dr. F. Eyskens
Dr. R. Brouns
Dr. K. De Boeck
Prof. Dr. G. De Keulenaar
  ZNA Middelheim Queen Paola Child Hospital BE 14.02.2008
R-334 John R. Ostergaard, M.D., DMSci.
Allan Lund, M.D., DMSci
  Centre for Rare Diseases -, Department of Paediatrics Aarhus University Hospital, Skejby,
Unit for Rare Diseases, Department of Clinical Genetics, University Hospital of Copenhagen
DK 14.02.2008
R-336 Bengt Frode Kase
Liv Tønnesen
Head of Centre for Rare Disorders
Senior Counsellor
Rikshospitalet University Hospital NO 14.02.2008
R-337 Louise Taylor Editor, OrphaNews Europe The EC Rare Diseases Task Force Newsletter
ORPHANET Hôpital Broussais INSERM SC11
FR 14.02.2008
R-339 Helen Dolk Professor of Epidemiology and Health Services Research EUROCAT Project Leader University of Ulster UK 14.02.2008
R-341  Dr François LETERRIER   AFM, Institut de Myologie Hôpital Pitié-Salpêtrière FR 14.02.2008
R-343 Group of Experts   Rarecare project IT 14.02.2008
R-345  Pr Claude Griscelli   Fondation Imagine Institut des maladies génétiques FR 14.02.2008
R-346 Prof. Johann Bauer, MD   Division of Molecular Dermatology and eb house austria Department of Dermatology Paracelsus Private Medical University Salzburg DE 14.02.2008
R-347 Mr Simon Land Consultations & Committee Services Manager Professional Affairs Department Royal College of Physicians UK 14.02.2008
R-361 Dr. Florence Roufosse   Department of Internal Medicine, Erasme Hospital, Brussels, Belgium Institute for Medical Immunology, Gosselies, Belgium BE 14.02.2008
R-363 Pascale Blaes Director ESMO Brussels Office, Political Affairs, Director ESMO Foundation European Society for Medical Oncology (ESMO) BE 14.02.2008
R-365  Dr. Giulio Panizza   Servizio Economia e Programmazione sanitaria IT 14.02.2008
R-370   Communications and Public Affairs Team Rehab Group IE 14.02.2008
R-384 Jorge Sequeiros President Medical Genetics College, at the Portuguese Medical Association (Ordem dos Médicos) PT 14.02.2008
R-389 Ruth M. Lang
Philip A. Routledge
Liaison Manager
Chairman, AWMSG, Professor of Clinical Pharmacology
All Wales Medicines Strategy Group
Welsh Medicines Partnership Cardiff University
Department of Pharmacology, Therapeutics & Toxicology
Wales College of Medicine
   
R-403 Prof. B. Fowler, Ph.D. Head of Labs Metabolic Unit
University Children's Hospital Basel (UKBB)
CH 14.02.2008
R-405 Prof. Ivo Kremensky, MD, PhD Head National Genetic Laboratory
University Hospital of Obstetrics, Coordinator, Molecular Medicine Center, Medical University of Sofia
BG 14.02.2008
R-407 Günter Fasching, M.D. Prof. of Paediatric Surgery   Dept. of Paediatric Surgery, General Hospital Klagenfurt AT 14.02.2008
R-416 Mojca Zerjav Tansek, MD   University Children's Hospital
Department of Endocrinology, Diabetes and Metabolic Diseases
SL 17.02.2008
R-422      Arbeitsgemeinschaft für angeborene Stoffwechselstörungen in der Inneren Medizin DE 19.02.2008
R-428 Professor Philip G. Murphy, M.Sc., M.D., F.R.C.Path., F.R.C.P.I. Consultant in Medical Microbiology, Director of the CFAI Microbiology Reference Laboratory, Adelaide Meath & National Children's Hospital IE 19.02.2008



Reference Centres


  Stakeholder Function Organisation Country Date
R-010  Pr Isabelle Touitou, MD, PhD   Unité médicale des maladies auto-inflammatoires (Centre de référence)
Laboratoire de génétique, Pôle de biologie-pathologie, Hôpital Arnaud de Villeneuve
FR 06.02.2007
R-096  Professeur Jean-François CORDIER   Service de Pneumologie – Centre de référence des maladies orphelines pulmonaires FR 05.02.2007
R-156  Professeur Eric HACHULLA Coordonnateur Centre de Référence des Maladies Auto-immunes et Maladies Systémiques Rares "Sclérodermie Systémique" FR 11.02.2007
R-160  Dr Isabelle Thuret
Dr Catherine Badens
Coordonnatrice Centre Maladies Rares Thalassémie FR 11.02.2007
R-171 Mrs. Marieta Igarenska, MPsych Project Coordinator Information Centre for Rare Diseases and Orphan Drugs Bulgarian Association for Promotion of Education and Science BG 11.02.2007
R-187  Miros?aw Zieli?ski Przewodnicz?cy Krajowe
Forum na rzecz terapii chorób rzadkich ORPHAN
PL 12.02.2007
R-324  Annette Sänger Cand.Comm Center for Rare Diseases and Disabilities DK 14.02.2007
R-353 Elaine Lammas Research and Policy Advisor Irish Platform for Patients' Organisations, Science and Industry IE 14.02.2007
R-379  Sylvie Odent Coordonnateur du centre de référence "maladies rares" anomalies du développement et syndromes malformatifs" de l'Ouest Génétique Médicale Hôpital SUD FR 14.02.2007
R-381  Pr S. Sarnacki, Pr P.A. Lehur, coordonnateurs
Dr Célia Crétolle, PH
  Centre de référence Malformations ano-rectales et pelviennes rares Chirurgie viscérale infantile et INSERM U781 Hôpital Necker-Enfants Malades FR 14.02.2007
R-383 Paola Vizziello, Paola Ajmone, Francesca Dall'Ara, Claudia Rigamonti   Children complex disabilities and rare diseases Centre Child and adolescent neuropsychiatric Unit Fondazione Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena IT 14.02.2007
R-402 Dr. F. Eyskens   Department of Metabolic Diseases, CEMA-Antwerp BE 14.02.2007
R-424  Pr. Henri Plauchu et Dr. Sophie Dupuis-Girod   Centre de Référence "Maladie de Rendu-Osler" FR 19.02.2007
R-427 Dott.ssa Daniela Settesoldi   Agenzia Italiana del Farmaco – AIFA Italian Medicines Agency IT 19.02.2007
R-434  Pr. Christian HAMEL, M. Jerez Laurent Le coordonnateur Administatif CHU – Centre Hospitalier Universitaire FR 17.02.2007



Researchers


  Stakeholder Function Organisation Country Date
R-023 Rosario Perona Associate Professor Instituto de Investigaciones Biomédicas CSIC/UAM Translational Oncology Unit CSIC/H. La Paz ES 27.12.2007
R-264 Dr. Pauline Evers Project Manager Treat-NMD European Neuromuscular Centre   13.02.2008
R-278 Silvio Garattini   The Clinical Research Center for Rare Diseases (CRCRD) Aldo e Cele Daccò IT 13.02.2008
R-291 Prof. Martina Cornel Chair Public and Professional Policy Committee of the European Society for Human Genetics NL 13.02.2008
R-310 Dr T.Kyriakides MB, ChB,Bsc(Hons) Senior Consultant Neurologist Director Neuropathology Lab
Cyprus Institute of Neurology and Genetic
CY 14.02.2008
R-364  Dr. Anne-Marie Masquelier Chief Executive Officer Genethon FR 14.02.2008



Others


  Stakeholder Function Organisation Country Date
R-006  Gianni Capezzuoli     IT 01.12.2007
R-007  Giovanna Danieli     IT 03.12.2007
R-009  Carmen Navas     ES 13.12.2007
R-013  Mihaela Andonesei     RO 13.12.2007
R-018  Mélodie Chevalier     FR 19.12.2007
R-019 Robert Veres       23.12.2007
R-020 Lupas Delia       23.12.2007
R-028  Florence Giroud       03.01.2008
R-035      International Labour office - Genève CH 07.01.2008
R-047  Jean-Raphaël Miron     FR 19.01.2008
R-050  D. Malon     FR 22.01.2008
R-054  Docteur Dany Galliano   Génétique Médicale FR 23.01.2008
R-056  Dr. J. Fabre     FR 24.01.2008
R-058  Bernard Gubarewicz     PL 26.01.2008
R-063  Marek Kramarski     PL 28.01.2008
R-064  Nuchanard Chiannilkulchai PH. D.     FR 28.01.2008
R-067  Serge Trevidic     FR 29.01.2008
R-076  Christiane et Jean Mallet     FR 31.01.2008
R-078  France Caelen     FR 31.01.2008
R-079  Anne et Eric Martin     FR 31.01.2008
R-084  Jean Claude     FR 02.02.2008
R-086  Brigitte Seuser     CH 04.02.2008
R-095  Brigitte Schustermann     FR 05.02.2008
R-102  Natalia Strzyzewska     PL 06.02.2008
R-104  Dr Pascale Sarni-Manchado   CR1 INRA FR 06.02.2008
R-117  Gilles Archambault     FR 05.02.2008
R-121  Jeanne Herrscher     FR 28.01.2008
R-126        FR 01.02.2008
R-131  Paulette Morin     FR 08.02.2008
R-181  Win Bayano     FR 12.02.2008
R-198  Edyta Krolik     PL 12.02.2008
R-203  Nathalie Heral     FR 12.02.2008
R-216  Marie-Helene Weinachter     FR 15.02.2008
R-224        FR 15.02.2008
R-239  Colette Girardot       12.02.2008
R-253        PL 13.02.2008
R-266        PL 13.02.2008
R-284  Inês Leal de Faria     PT 13.02.2008
R-288  Genoveva Lopez Garcia       13.02.2008
R-306  Doris Filippin-Monnet     CH 14.02.2008
R-309  Sabine Viand     CH 14.02.2008
R-331  Sylvie Fay     FR 14.02.2008
R-349      Dorota i Robert ?abczak PL 14.02.2008
R-368  Freddy Pepelnjak     FR 14.02.2008
R-372  Docteur Philippe Henry   La Prothèse Générale FR 14.02.2008
R-376 Vesa Nopanen       14.02.2008
R-378  Pavel Dessy     BG 14.02.2008
R-385  Arja Nurmela ja Virpi Tanskanen       14.02.2008
R-409  Catherine Mollard     FR 14.02.2008
R-438        FR 14.02.2008
R-453  Maria Irena Sterna     PL 14.02.2008
R-454  Kazimierz Owczarek     PL 14.02.2008
R-455  Jadwiga Socha     PL 14.02.2008
R-456  Tomasz Bobrowski     PL 14.02.2008
R-457  Andrzej Strzy?ewski     PL 14.02.2008
R-458  Beata Ko?li?ska     PL 14.02.2008