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

 StakeholderFunctionOrganisationCountryDate
R-003pdf(38 KB)Dominique Joux  FR29.11.2007
R-008 Choose translations of the previous link italiano (it) Fabrizio Gavazza  IT03.12.2007
R-015 Choose translations of the previous link español (es)    ES18.12.2007
R-017 Choose translations of the previous link français (fr) Marielle lacaut  FR19.12.2007
R-021 Choose translations of the previous link français (fr) Danielle et Jean Miron  FR23.12.2007
R-022 Choose translations of the previous link español (es)    ES24.12.2007
R-024 Choose translations of the previous link français (fr) M. PICAMAL René  FR28.12.2007
R-025pdf(39 KB) Choose translations of the previous link suomi (fi) Merja Vuori  FI29.12.2007
R-026pdf(38 KB)Vania Dobreva  BG01.01.2008
R-027 Choose translations of the previous link français (fr) Claudine Goze-weber  FR03.01.2008
R-029 Choose translations of the previous link italiano (it)    IT07.01.2008
R-031pdf(42 KB) Choose translations of the previous link Deutsch (de)     13.01.2008
R-043 Choose translations of the previous link italiano (it) Francesco Tomasello  IT18.01.2008
R-046 Choose translations of the previous link français (fr) Sylvie Hulin  FR19.01.2008
R-057pdf(48 KB) Choose translations of the previous link italiano (it) polski (pl) Anna Jakubowska  PL25.01.2008
R-059pdf(37 KB) Choose translations of the previous link polski (pl) Zofia Smorga  PL26.01.2008
R-060 Choose translations of the previous link français (fr) Fargeas Nadia  FR26.01.2008
R-068 Choose translations of the previous link français (fr) M. et Mme Leroy  FR29.01.2008
R-069 Choose translations of the previous link français (fr) Christiane Lupo  FR30.01.2008
R-071pdf(44 KB) Choose translations of the previous link português (pt) José Henrique  PT30.01.2008
R-088 Choose translations of the previous link italiano (it) Lucia Lamonarca  IT04.02.2008
R-097 Choose translations of the previous link français (fr) Mr et Mme Pichon de Bury  FR05.02.2008
R-101 Choose translations of the previous link français (fr) Anne et Christian Marguillier  FR05.02.2008
R-129 Choose translations of the previous link italiano (it) Rea Bernardino  IT08.02.2008
R-143 Choose translations of the previous link français (fr) Jean Rodrigues  FR10.02.2008
R-144 Choose translations of the previous link français (fr) Sabine et Thierry Canepa
Yvette et Claude Fau
  FR10.02.2008
R-146 Choose translations of the previous link français (fr) Marie-Marguerite Haeffele  FR11.02.2008
R-164 Choose translations of the previous link français (fr) Roland Bigey  FR11.02.2008
R-166 Choose translations of the previous link polski (pl) Sylwia W?grzynowska  PL11.02.2008
R-176 Choose translations of the previous link français (fr) Sophie Heilbrunn  FR12.02.2008
R-182 Choose translations of the previous link français (fr) Catherine Tarel-Berlemont  FR12.02.2008
R-192 Choose translations of the previous link polski (pl) Jolanta Kuc  PL12.02.2008
R-200 Choose translations of the previous link polski (pl) Leszek Musz  PL12.02.2008
R-207 Choose translations of the previous link polski (pl) Renata Chrusciel  PL12.02.2008
R-215 Choose translations of the previous link français (fr) Josiane Berset  CH15.02.2008
R-220 Choose translations of the previous link français (fr) Mireille Santacreu  FR15.02.2008
R-227pdf(336 KB)Mary Dorothy Clarke  UK15.02.2008
R-229 Choose translations of the previous link français (fr) Evelyne Sheffey  FR15.02.2008
R-244 Choose translations of the previous link français (fr) Céline Heintze l'association HTAP FranceFR13.02.2008
R-248 Choose translations of the previous link polski (pl) Monika D?mbska  PL13.02.2008
R-265 Choose translations of the previous link italiano (it) Paolo Camagni  IY13.02.2008
R-283 Choose translations of the previous link italiano (it) Mariolina Barbera  IT13.02.2008
R-287 Choose translations of the previous link français (fr) Isabelle Meurant  CH13.02.2008
R-292 Choose translations of the previous link suomi (fi) Liisa and Jari-Matti Vuorio  FI13.02.2008
R-320 Choose translations of the previous link français (fr) Marlène Rosset   14.02.2008
R-328 Choose translations of the previous link français (fr) Alice Miron  FR14.02.2008
R-338pdf(44 KB)Taina Hickey  FI14.02.2008
R-340 Choose translations of the previous link polski (pl) Agnieszka i Edmund Fary?  PL14.02.2008
R-387 Choose translations of the previous link français (fr) Violette Devanthery  FR14.02.2008
R-397 Choose translations of the previous link français (fr) Nadine Truffy  FR14.02.2008
R-399pdf(32 KB) Choose translations of the previous link français (fr) Axel van der Mersch  LU14.02.2008
R-410 Choose translations of the previous link español (es) Isabel Jiménez  ES14.02.2008
R-414 Choose translations of the previous link français (fr) Sarah Cornaz  FR14.02.2008




National patient organisations

 StakeholderFunctionOrganisationCountryDate
R-001 Choose translations of the previous link français (fr) Arsène LossonVice-PrésidentAssociation HNPCC FranceFR26.11.2007
R-002 Choose translations of the previous link français (fr) Françoise PRAT AMADYSFR28.11.2007
R-005 Choose translations of the previous link français (fr) Nicole Baraton AMADYSFR30.11.2007
R-011 Choose translations of the previous link español (es) Jurado ChacónPresidentAsociación Andaluza de Pacientes con Síndrome de Tourette y Trastornos AsociadosES08.12.2007
R-016 Choose translations of the previous link français (fr) Michelle GonsalvesPresident of FLAMAssociation FLAM (France Lymphangio- léiomyomatose)FR19.12.2007
R-030pdf(41 KB)Helga Süli-Vargha DScChairmanHungarian VHL SocietyHU07.01.2008
R-031pdf(38 KB) Choose translations of the previous link Deutsch (de) Dr. Andreas BächliPresidentSchweizerischen Prader-Willi-Syndrom-VereinigungCH12.01.2008
R-033pdf(423 KB) Choose translations of the previous link español (es)   Federación de Ataxias de EspañaES14.01.2008
R-034 Choose translations of the previous link français (fr) Gilbert FuzillierPresidentl'AFPCA = Association Francophone contre la Polychondrite AtrophianteFR14.01.2008
R-036pdf(197 KB)Stephanie S., Weinreich, Ph. D., Marcel TimmenResearch advocacy officer General DirectorDutch Association for Neuromuscutar DiseasesNL07.01.2008
R-039pdf(42 KB) Choose translations of the previous link español (es) pdf(48 KB) Choose translations of the previous link español (es)   AMPASTTA (Asociación Madrileña de Pacientes con Síndrome de Gilles de la Tourette y Trastornos AsociadosES15.01.2008
R-041pdf(39 KB)Dan DoricaPresident RPWA/ ANBRaRoRomanian National Alliance for Rare Diseases - RONARDRO16.01.2008
R-042 Choose translations of the previous link français (fr) Nicole ChampavierPresidentAssociation de l'Ostéogenèse ImparfaiteFR16.01.2008
R-044 Choose translations of the previous link français (fr)   A . F . M . B . D Association Française de la Maladie de Blackfan DiamondFR18.01.2008
R-048 Choose translations of the previous link Deutsch (de) Ursula HufferCorporate directorA . F . M . B . D HAE e.V. DeutschlandDE21.01.2008
R-049pdf(57 KB) Choose translations of the previous link Nederlands (nl) Balthasar Schaap Autosomaal Dominante Cerebellaire Ataxie Vereniging NederlandNL21.01.2008
R-052 Choose translations of the previous link français (fr) M-A Voelckel (PhD-MPCG)Presidentl'AFCG - l'Association Française des Conseillers en Génétique (AFCG)/ Département de Génétique Médicale Hôpital d'Enfants de la TimoneFR23.01.2008
R-057pdf(47 KB) Choose translations of the previous link italiano (it) polski (pl) Donatella e Marco Sessa L’A.I.S.Ac. Associazione per l’Informazione e lo Studio sulla AcondroplasiaIT24.01.2008
R-058 Choose translations of the previous link français (fr) polski (pl) Le bureau de l'AFSED Association Française des Syndromes d’Ehlers-Danlos A.F.S.E.DFR25.01.2008
R-062 Choose translations of the previous link français (fr) Francoise Sarret Association pour la Prévention, le Traitement et l’Etude des Polyposes FamilialesFR27.01.2008
R-072pdf(86 KB) Choose translations of the previous link español (es)   Junta directiva de la Asociación Galega de AtaxiasES30.01.2008
R-073pdf(48 KB) Choose translations of the previous link italiano (it)   Associazione MIA Onlus Associazione Italiana Miastenia Onlus.IT30.01.2008
R-074pdf(55 KB) Choose translations of the previous link Nederlands (nl) David AbelnChairman Dutch PKU associationNederlandse Phenylketonurie VerenigingNL31.01.2008
R-075pdf(47 KB) Choose translations of the previous link français (fr) Sven FandrupChairmanImmunodeficiency Association, DenmarkDK31.01.2008
R-081 Choose translations of the previous link Deutsch (de) Eva Hütter & Gerald Fischer Selbsthilfegruppe LungenhochdruckDE01.02.2008
R-085 Choose translations of the previous link Deutsch (de) Adeltraud MüllerLeiterinSelbsthilfegruppe "Leben mit Behcet – Deutschland"DE03.02.2008
R-087pdf(45 KB)Bodil DavidsenSocial workerLandsforeningen for Marfan SyndromDK04.02.2008
R-089 Choose translations of the previous link français (fr) Inès de LeudevillePresidentAssociation GênirisFR04.02.2008
R-091pdf(55 KB)Dr Amy HunterSenior Policy and Research ManagerGenetic Interest GroupUK04.02.2008
R-092 Choose translations of the previous link français (fr) Luc et Rosie Matthysen HTAP Belgique Hypertension artérielle PulmonaireBE04.02.2008
R-093 Choose translations of the previous link français (fr) Christine Jurvillier AMADYS : Association des Malades Atteints de DYStonieFR04.02.2008
R-100pdf(101 KB)D.StoyanovChairmanAssociation of the Acromegaly Diseased in Bulgaria – "Hope for life"BG05.02.2008
R-103 Choose translations of the previous link français (fr) Thomas HeuyerDélégué généralMaladies Rares Info Services Chargé de la communication de la Plateforme Maladies RaresFR06.02.2008
R-105 Choose translations of the previous link español (es) FEDER Comunidad Valenciana Headquarters of the Spanish Federation of Rare Diseases in ValenciaES07.02.2008
R-109 Choose translations of the previous link français (fr) Lydia DebarPresidentAssociation Histiocytose FranceFR07.02.2008
R-113 Choose translations of the previous link español (es) Nuria Belén Aguilera ArenasPsicólogaAsociación Andaluza contra la Fibrosis Quística 07.02.2008
R-115pdf(64 KB)Alan SummersideDevelopment DirectorThe Thalidomide TrustUK08.02.2008
R-116 Choose translations of the previous link français (fr) polski (pl) Roman Michalik
Maciej Czy?
 Stowarzyszenie rodzin z chorob? fabry'egoPL08.02.2008
R-118 Choose translations of the previous link français (fr) Jean-Marc LallemandPresidentADCP – L'Association de patients ayant Dyskinesie Ciliaire PrimitiveFR05.02.2008
R-122 Choose translations of the previous link français (fr) Philippe BRUNPresidentASSYMCAL – Association des Malades Porteurs du Symdrome de McCune-Albright de Dysplasie Fibreuse des OsFR29.01.2008
R-123 Choose translations of the previous link français (fr) Claudine GRANCHER
Daniele JACQUES
President
Secretary
Association Francaise des FibromyalgiquesFR29.01.2008
R-124 Choose translations of the previous link français (fr) Valerie PROISYPresidentAssociation Syndrome de Wiliams Midi-Pyrenees & Languedoc RoussillonFR30.01.2008
R-125 Choose translations of the previous link français (fr) Jeannine FINET Association "SURRENALES"FR01.02.2008
R-130 Choose translations of the previous link français (fr) Mr Raymond SOUQUIVice-président de l'associationAssociation "SURRENALES"FR01.02.2008
R-132 Choose translations of the previous link italiano (it) Dr.ssa Anna Maria Nardi
Prof.Pierluigi Zoccolotti
President
Vice-President
L’Associazione "IL CIGNO" OnlusIT08.02.2008
R-133 Choose translations of the previous link français (fr) B. PiastraPresidentL'ASSOCIATION - Wegener Infos et VascularitesFR08.02.2008
R-134 Choose translations of the previous link français (fr) Jean-Marc PittoniPresidentAssociation des Malades d’Algies PudendalesFR08.02.2008
R-138 Choose translations of the previous link français (fr) Danielle Montfort Association AMADYS-LFCDFR09.02.2008
R-139 Choose translations of the previous link français (fr) Paulette MorinPresidentAssociation Française du Syndrome de MarfanFR09.02.2008
R-141 Choose translations of the previous link polski (pl) Leszek Michalik Stowarzyszenie Rodzin zChorob? Fabry'egoPL10.02.2008
R-142 Choose translations of the previous link polski (pl) Wioleta ?abno Stowarzyszenie Chorych na MPS i Choroby RzadkiePL10.02.2008
R-145 Choose translations of the previous link français (fr) Vinciane BerckmansPrésidenteH.A.E. Belgium (Hereditary AngioEdema)BE10.02.2008
R-150 Choose translations of the previous link français (fr) Juliette Dieusaert AFAFFR11.02.2008
R-152 Choose translations of the previous link français (fr) Sandrine LefebvreSecrétariatAFH Association Française des HémophilesFR11.02.2008
R-153 Choose translations of the previous link polski (pl) Krzysztof Bajer Stowarzyszenie Chorych na MPS i Choroby RzadkiePL10.02.2008
R-157 Choose translations of the previous link français (fr) Christiane KarakoglouVice-présidentel’AFPCA (association francophone contre la Polychondrite Chronique Atrophiante)FR11.02.2008
R-158 Choose translations of the previous link polski (pl) Malgorzata Kaflik Polish Society of MPS and Related DiseasesPL11.02.2008
R-162 Choose translations of the previous link français (fr) Melanie Gallant-DewavrinDirectorHTAPFranceFR11.02.2008
R-163 Choose translations of the previous link français (fr) Gérard BrebantMemberAssociation ASTBFR11.02.2008
R-165 Choose translations of the previous link français (fr) Chantal LecerfMemberAssociation de Malades Atteints de DYStonie (AMADYS-LFCD)FR11.02.2008
R-167 Choose translations of the previous link Deutsch (de) Judith HamannVorsitzendeElternhilfe für Kinder mit Rett-Syndrom in Deutschland e.VDE11.02.2008
R-168pdf(116 KB)Britt LeopoldExecutive directorThe Swedish Cystic Fibrosis AssociationSU11.02.2008
R-169 Choose translations of the previous link français (fr) Philippe Duvivier Association Française autour des Arthrogryposes (Alliance Arthrogrypose)FR11.02.2008
R-170 Choose translations of the previous link français (fr) Jonathan CottigniesPresidentA.A.D.CFR11.02.2008
R-172 Choose translations of the previous link Deutsch (de) Birgit DembskiManager for health policy and therapeutic supportGerman Cystic Fibrosis associationDE11.02.2008
R-174apdf(42 KB)
R-174bpdf(329 KB)
Torben GrønnebækChairmanThe Danish Wilson Patient AssociationDA12.02.2008
R-175 Choose translations of the previous link français (fr) Micheline DetourSecretaryASLFR12.02.2008
R-177 Choose translations of the previous link polski (pl) Aneta Trochimiuk Stowarzyszenie Chorych na Mukopolisacharydoz? i Choroby PokrewnePL12.02.2008
R-178 Choose translations of the previous link polski (pl) Maria Widalska Stowarzyszenie Chorych na Mukopolisacharydoz? i Choroby PokrewnePL12.02.2008
R-183pdf(49 KB)Johannes Flensted-Jensen
Charlotte Fuglsang
President
CEO
Danmarks LungeforeningDK12.02.2008
R-184 Choose translations of the previous link français (fr) Claude FiévetVice- Président
CEO
HTAP FRANCE - Hypertension Artérielle PulmonaireFR12.02.2008
R-185 Choose translations of the previous link français (fr) Catherine FaouPrésidente
CEO
AFGS - l'Association Française du Gougerot Sjögren et des syndromes secsFR12.02.2008
R-186 Choose translations of the previous link français (fr) Martine ColmantPrésidente
CEO
AFGS - l'Association Française du Gougerot Sjögren et des syndromes secsFR12.02.2008
R-188 Choose translations of the previous link français (fr) Dr. Philippe HanriatSecrétaire A.SLAssociation Strümpell-Lorrain (HSP-France)FR12.02.2008
R-189pdf(55 KB) Choose translations of the previous link français (fr) Christophe Duguet Association Française contre les Myopathies (French Muscular Dystrophy Association)FR12.02.2008
R-190 Choose translations of the previous link polski (pl) Pawe? WójtowiczPrezes Zarz?duFundacja Pomocy Rodzinom i Chorym na Mukowiscydoz? MATIOPL12.02.2008
R-193pdf(45 KB)Ron OvertonDirectorRett Syndrome Association UKUK12.02.2008
R-196 Choose translations of the previous link polski (pl) Maria Kopecka Stowarzyszenie Chorych na Mukopolisacharydoz? i Choroby PokrewnePL12.02.2008
R-197 Choose translations of the previous link français (fr) Françoise AntoniniDéléguée GénéraleAlliance Maladies Rares - Plateforme Maladies RaresFR12.02.2008
R-199 Choose translations of the previous link français (fr) Isabelle Marchetti-WaternauxPresidentAssociation de Porteurs d'Anomalies ChromosomiquesFR11.01.2008
R-204 Choose translations of the previous link français (fr) Jean-Paul GagnèrePrésidentAssociation suisse-romande pour le syndrome Gilles de la TouretteCH12.02.2008
R-205pdf(70 KB) Choose translations of the previous link español (es) Rosa Sánchez de VegaPresidentFEDER - Federación Española De Enfermedades Raras (Spanish Alliance for Rare Diseases)ES12.02.2008
R-208pdf(38 KB)Vladimir Tomov National Alliance of People with Rare Diseases - Bulgaria 12.02.2008
R-209pdf(40 KB)Jane Stanton-RobertsSecretaryThe Dancing Eye Syndrome support trust in the UKUK12.02.2008
R-210 Choose translations of the previous link français (fr) Francois HafnerPresidentAssociation Nationale Spina Bifida Handicaps AssociésFR19.02.2008
R-211 Choose translations of the previous link français (fr) Christian FoucauxPresidentPrader-Willi FranceFR15.02.2008
R-213 Choose translations of the previous link français (fr) Denise Laporte A.F.S.A. Presidence – l'Assosiation Francophone du Syndrome d'AngelmanFR15.02.2008
R-217 Choose translations of the previous link français (fr) Lea Fallourd Ligue contre MyopathieFR15.02.2008
R-219 Choose translations of the previous link français (fr) Jean-Pierre BloisPresidentAssociation Strumpell-LorrainFR15.02.2008
R-222 Choose translations of the previous link français (fr) Pierrette GrangePresidentLes Feux FolletsFR15.02.2008
R-223pdf(2 MB)Prof. Michel RousseyPresidentAFDPHE – Association Francaise pour le Depistage et la Prevention de Handicaps de l'EnfantFR15.02.2008
R-226 Choose translations of the previous link français (fr) Claudine ColinePresidentAssociation SurrenalesFR15.02.2008
R-232 Choose translations of the previous link français (fr) Françoise TissotPresidentAssociation contre les Maladies MitochondrialesFR15.02.2008
R-233pdf(187 KB)Cor OosterwijkDirectorVSOP – Dutch genetic allianceNL15.02.2008
R-235 Choose translations of the previous link Deutsch (de) Jerome RiesRechtsanwaltBundesverband Kleinwunschige Menschen und ihre Familien e.V.DE15.02.2008
R-236pdf(43 KB)Torben Grønnebæk,
Lene Jensen
President
CEO
Rare Disorders DenmarkDE13.02.2008
R-237 Choose translations of the previous link français (fr) Les membres du bureau d’AVML Association Vivre Mieux le LymphœdèmeFR13.02.2008
R-241 Choose translations of the previous link français (fr) Delacombaz LéonPrésidentAPEP - Association de Parents d’Enfants PhénylcétonuriquesCH13.02.2008
R-242 Choose translations of the previous link français (fr) Etienne HameauPrésident de France LaforaAssociation France LAFORAFR13.02.2008
R-243pdf(42 KB)Lykke RehderChairmanThe Danish Ehlers-Danlos SocietyDK13.02.2008
R-245pdf(68 KB) Choose translations of the previous link svenska (sv) Elisabeth WalleniusPresidentSwedish Association of Rare DisordersSU13.02.2008
R-247pdf(49 KB)Dr. Rainald von Gizycki
Dr. Claus Gehrig
ChairmanPro Retina Deutschland e.V.DE13.02.2008
R-249pdf(79 KB)H.K. MeutgeertExecutive DirectorVKS - Dutch Umbrella organization for metabolic diseasesNL13.02.2008
R-250pdf(63 KB)William C Owen Niemann-Pick Disease GroupUK13.02.2008
R-255 Choose translations of the previous link Deutsch (de) Stella Peckary Österreichische Rett-Syndrom GesellschaftDE13.02.2008
R-258 Choose translations of the previous link suomi (fi) Merja MontoCoordinatorFinnish Association of People with Mobility Disabilities (FMD) Unit of Unknown and Rare Groups - Lahti Rehabilitation CentreFI13.02.2008
R-262pdf(43 KB)Marianna LambrouPresidentGreek Alliance for Rare Diseases and Tuberous Sclerosis Association of GreeceGR13.02.2008
R-267pdf(100 KB)Hartmut Fels ACHSE e.V. - Allianz Chronischer Seltener Erkrankungen - German Alliance for Rare Diseases – c/o DRK-Kliniken WestendDE13.02.2008
R-268 Choose translations of the previous link suomi (fi) Leila Raninen Finnish Marfan AssociationFI13.02.2008
R-269pdf(893 KB)Helena Ylikyla-LeivaChief Executive officerThe Finnish MS SocietyFI11.02.2008
R-270 Choose translations of the previous link dansk (da) Mette Spangsberg Danish Association of DystoniaDA13.02.2008
R-271pdf(44 KB)Dr Janet MaxwellPH ConsultantSW SCGUK13.02.2008
R-272pdf(73 KB)Annie Brønnum Hjerteforeningen - Danish Heart FoundationDA13.02.2008
R-275 Choose translations of the previous link français (fr) Martine GaudyAdministrateur à l’AFSRAssociation française du syndrome de RettFR13.02.2008
R-281 Choose translations of the previous link français (fr)   Association du syndrome de Williams et Beuren - Ile de FranceFR13.02.2008
R-285 Choose translations of the previous link français (fr) Gilles BoustanyDirecteur généralFédération des Maladies OrphelinesFR13.02.2008
R-286pdf(48 KB)Dr Susan Walker-DateVice ChairRett Syndrome Association UKUK13.02.2008
R-289 Choose translations of the previous link français (fr) Olivier de CompiègnePrésidentXtraordinaireFR13.02.2008
R-290 Choose translations of the previous link italiano (it) Bianca Piantanida PizzeraSegretario AIPAssociazione immunodeficienze primitive- onlusIT13.02.2008
R-293pdf(40 KB)Beate Rasp and Eva Kitir German Morbus Wilson patient organisationDE13.02.2008
R-294 Choose translations of the previous link magyar (hu) Gabor Pogany Ph.D.Executive vice presidentHUFERDIS Hungarian Federation of People with Rare and Congenital Diseases - Rare Diseases HungaryHU13.02.2008
R-295pdf(45 KB)Tiffany House, BA, MADirectorAMDA is a national Pompe disease patient organizationUSA13.02.2008
R-296 Choose translations of the previous link magyar (hu) Csató Zsuzsa Csupaszívek Társasága The Opinion of the Hungarian Society of People with Golden HeartHU13.02.2008
R-297 Choose translations of the previous link magyar (hu) Pné Bojtor Zsuzsannaelnök, MWSzTHungarian Williams Syndrome AssociationHU13.02.2008
R-298 Choose translations of the previous link polski (pl) Stanis?aw Ma?kowiakPrezesFederacja Pacjentów PolskichPL13.02.2008
R-299 Choose translations of the previous link español (es) Miguel Ángel
Rodrigo Jiménez
 Delegado en Catalunya de SIMAES13.02.2008
R-300 Choose translations of the previous link italiano (it) Giorgio PioliPresidenteAssociazione Intolleranza Fruttosio Onlus (AIF Onlus)IT13.02.2008
R-301 Choose translations of the previous link Deutsch (de) Ulrike Holzer Stellvertr.VorsitzendeSelbsthilfegruppe Ektodermale Dysplasie e.V.DE13.02.2008
R-302 Choose translations of the previous link français (fr)   Association Autour des WilliamsFR14.02.2008
R-312 Choose translations of the previous link français (fr) Christian BallouardPrésidentAssociation VASI (Vaincre l’Adénylo Succinase par l’Information)FR14.02.2008
R-313pdf(45 KB)  Myeloma UKUK14.02.2008
R-315pdf(62 KB)  Assessorato alla Sanità – Direzione Piani e Programmi Socio SanitariIT14.02.2008
R-317 Choose translations of the previous link italiano (it) Cinzia SacchettiPresidentNazionale A.Fa.D.O.C. onlus associazione famiglie di soggetti con deficit di ormone della crescita ed altre patologieIT14.02.2008
R-318 Choose translations of the previous link français (fr) Olivia NiclasPresidentAssociation Française des Dysplasies EctodermiquesFR14.02.2008
R-321 Choose translations of the previous link français (fr) François LefebvrePresidentAssociation Française du Syndrome de Gilles de La Tourette (AFSGT)FR14.02.2008
R-326pdf(49 KB)Kaarina Laine-HäikiöManaging DirectorThe Finnish Rheumatism AssociationFI14.02.2008
R-333pdf(135 KB)Mogens Brandt Clausen
Birthe Byskov Holm,
chair
vicechair
Danish Ostegenesis Imperfecta SocietyDA14.02.2008
R-344 Choose translations of the previous link Nederlands (nl)   Debra Belgium VZWBE14.02.2008
R-348 Choose translations of the previous link français (fr) Claudie DurandMemberAssociation Sclérose Tubéreuse de Bourneville (ASTB)FR14.02.2008
R-352 Choose translations of the previous link italiano (it) Dr. Lucia MonacoChief Scientific OfficerFondazione TelethonIT14.02.2008
R-358 Choose translations of the previous link français (fr) Jacques MonnetPresidentAssociation Incontinentia Pigmenti FranceFR14.02.2008
R-359 Choose translations of the previous link français (fr) Jean LafondPresidentVaincre la MucoviscidoseFR14.02.2008
R-369 Choose translations of the previous link italiano (it) Maria Elisabetta Villa Gruppo di Sostegno DBA Italia OnlusIT14.02.2008
R-371 Choose translations of the previous link italiano (it) Dott.ssa Annapia Verri IRCCS. Fondazione Istituto Neurologico C. MondinoIT14.02.2008
R-377 Choose translations of the previous link čeština (cs) Pavel Seeman - steering committee of CMT Czech Republic Patient organisation Charcot Marie Tooth AssociationCZ14.02.2008
R-380 Choose translations of the previous link ελληνικά (el) Kostas TheodosakisPresidentHellenic Cystic Fibrosis AssociationGR14.02.2008
R-382 Choose translations of the previous link suomi (fi) Sari TervonenToiminnanjohtajaEpilepsialiitto ryFI14.02.2008
R-386 Choose translations of the previous link français (fr) Laure CamborieuxPrésidenteAssociation MAIA
Soutien aux couples infertiles Association Nationale
FR14.02.2008
R-390 Choose translations of the previous link français (fr)  PrésidenteAssociation Marie-Thérèse MERNYFR14.02.2008
R-391 Choose translations of the previous link italiano (it) Dr. Paola ZottiPresidentDEBRA ItalyIT14.02.2008
R-392 Choose translations of the previous link français (fr) Marie-Françoise MéresseDéléguée RégionaleAlliance Maladies Rares pour la Champagne-Ardenne et de Prader-Willi France pour Champagne-Ardenne et Nord-PicardieFR14.02.2008
R-393 Choose translations of the previous link Deutsch (de) Gerd Ulrich HeuerMitgliedBundesselbst-hilfevereinigung 'Multiple kartilaginäre Exostosen (Osteochondrome)' e.VDE14.02.2008
R-395pdf(79 KB) Choose translations of the previous link Deutsch (de) Dr. rer. nat. Bernd QuadderPresidentDeutsche Sarkoidose-Vereinigung e.V. - German Sarcoidosis AssociationDE14.02.2008
R-398pdf(44 KB)  Rett Syndrome Association UKUK14.02.2008
R-400 Choose translations of the previous link français (fr) Françoise Tissot AMMi - Association contre les maladies mitochondriales françaiseFR14.02.2008
R-401 Choose translations of the previous link français (fr)   ANPSAFR14.02.2008
R-411pdf(52 KB)Corinne LagrafeuilPresidentAssociation Polykystose France - French Chapter of the PKD FoundationFR14.02.2008
R-412pdf(156 KB)M. Giuseppe PajardiPresidentAidwebIT14.02.2008
R-415pdf(52 KB)Natalija StošickiPresidentSlovenian PKU AssociationSL14.02.2008
R-417 Choose translations of the previous link français (fr) Christine Chirossel (parent et adhérent- délégué régional)
Christel Nourrissier
PresidentAssociation Prader Willi France
Eurordis/Prader Willi France
FR18.02.2008
R-425pdf(53 KB)Stamatina ManoliasMember of the board of directors of the associationAssociation of people with genetic disorders "To Mellon"GR19.02.2008
R-433 Choose translations of the previous link français (fr) Jose MartyPresidentA.M.A.R.M.Y.U.L. – Association Maladie Rare Myoclonique Unverricht LundborgFR15.02.2008
R-435pdf(386 KB)Teija SalokorpiMemberFinnish network of RD patients organisationsFI17.02.2008
R-436 Choose translations of the previous link italiano (it) Dott Fabrizio SeiditaPresidentAIG – Associazone Italiana Glicegonosi, Associazione di Volontariato ONLUS di DirittoIT17.02.2008
R-437 Choose translations of the previous link français (fr)   Comite de Liaison et d'Action des Parents d'Enfants et d'AdultesFR28.02.2008
R-441 Choose translations of the previous link français (fr) Nathalie TriclinPresidentAssociation Des Patients de la Maladie de FabryFR28.02.2008
R-442 Choose translations of the previous link français (fr) Christine Perrier AVML - Association Vivre Mieux le LymphoedemeFR28.02.2008
R-443 Choose translations of the previous link Deutsch (de) PD Dr. med. Martin Merkel
Prof. Dr. med. Stephan vom Dahl
Vorsitzender der ASIM
Prasident der ASIM 2009
   
R-444 Choose translations of the previous link français (fr) Le bureau AVLM Association AVML - Association Vivre Mieux le LymphoedemeFR28.02.2008
R-445 Choose translations of the previous link français (fr) Bettina Vogel Groupe de Travail Maladies RarLU21.02.2008
R-447 Choose translations of the previous link polski (pl) Maciej Czy? Stowarzyszenie rodzin z chorob? fabry'egoPL08.02.2008
R-448 Choose translations of the previous link polski (pl) Ewa Rogozi?ska Stowarzyszenie rodzin z chorob? fabry'egoPL08.02.2008
R-449 Choose translations of the previous link polski (pl)
R-449b Choose translations of the previous link polski (pl)
R-449 Choose translations of the previous link polski (pl)
Anna Winska
Piotr Szulc
Agniszka Szulc
 Stowarzyszenie Chorych na Mukopolisacharydoz? i Choroby PokrewnePL14.02.2008
R-450 Choose translations of the previous link polski (pl) Pawel Oswiecinski Stowarzyszenie Rodzin z Choroba GaucheraPL14.02.2008
R-451 Choose translations of the previous link polski (pl) Pawel Chor??y Fundacja GajuszPL14.02.2008
R-452 Choose translations of the previous link polski (pl) Dorota Nawrot Rudnicka
Jan Kawalec
 Stowarzyszenie Marfan PolskaPL14.02.2008
R-459 Choose translations of the previous link polski (pl) 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"PL14.02.2008
R-460 Choose translations of the previous link polski (pl)
R-460b Choose translations of the previous link polski (pl)
R-460c Choose translations of the previous link polski (pl)
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 RzadkiePL14.02.2008




International patient organisations

 StakeholderFunctionOrganisationCountryDate
R-004pdf(38 KB)Vitaliy MatyushenkoPresident of FoundationChildren with SMAUA29.11.2007
R-014pdf(127 KB)Denis Strangman, Kathy OliverIBTA Chair
IBTA Secretary
International Brain Tumor AlianceUK16.12.2007
R-032pdf(41 KB)Professor Jean-Jacques CassimanThe coordinatorEuroGentest - Center Human GeneticsBE14.12.2007
R-038pdf(46 KB)Dr WW de Herder, MD PhDthe Chairman of ENETSENETS, European Neuroendocrine Tumor Society 15.01.2008
R-051pdf(45 KB)Bruno KoppPresidentPHA Europe – Pulmonary Hypertension Association EuropeDE22.01.2008
R-055pdf(329 KB)Stuart TannerEmeritus Professor of PaediatricsEuroWilson ConsortiumUK24.01.2008
R-059pdf(90 KB) Choose translations of the previous link polski (pl) Jean RiallandEFAPH PresidentEFAPH (European Federation of Association of Patients with Haemochromatosis) 26.01.2008
R-061pdf(39 KB)Paul PyckFEWS secretaryEuropean Federation of all national associations of Williams Syndrome 27.01.2008
R-077pdf(63 KB)Lia van Ginneken-NoordmanSecretaryEuropean Myeloma Platform (EMP)BE31.01.2008
R-080pdf(68 KB)Laurence WarrenPresidentAlfa Europe Federation e.V - European Federation for Alpha1 Antitrypsin DeficiencyIE01.02.2008
R-083 Choose translations of the previous link italiano (it) Elsa Aimone A.R.A.I.T - un’ associazione internazionaleIT01.02.2008
R-094pdf(96 KB)Robert Schäfer Myeloma Euronet Secretariat 04.02.2008
R-098pdf(38 KB)Anna KoleResearch AssistantRDTF Secretariat Orphanet 05.02.2008
R-107pdf(61 KB)Dr. Androulla EleftheriouExecutive DirectorThalassaemia International Federation 07.02.2008
R-108 Choose translations of the previous link français (fr) Karen AIACHPresident / ChairmanAlliance SANFILIPPO 07.02.2008
R-111pdf(61 KB)Mitchell Messer / Ulrica SterkyPresidentCystic Fibrosis Worldwide 07.02.2008
R-114pdf(49 KB)David WattersExecutive DirectorIPOPI - International Patient Organisation for Primary Immunodeficiencies 08.02.2008
R-116 Choose translations of the previous link français (fr) polski (pl) Marie-Claude BoiteuxPresidentCUTIS LAXA Internationale 30.01.2008
R-119 Choose translations of the previous link français (fr) Marie-France ZanettiPresidentAssociation SCI (Syndrome de Cohen International) 05.02.2008
R-135 Choose translations of the previous link français (fr) Anne Henrion Association Neurofibromatoses et RecklinghausenFR09.02.2008
R-137pdf(57 KB)Harald NiemannVice ChairmanGBS Initiative e.V.DE09.02.2008
R-148pdf(220 KB)Paul A.N. KokPresidentEPOS - European Association of Patiënts Organisations of Sarcoïdosis and other Granulatumous DisordersNL11.02.2008
R-149 Choose translations of the previous link français (fr) Caroline van HeesewijkVice PresidentEuropean Chromosome 11 NetworkNL11.02.2008
R-151 Choose translations of the previous link français (fr) Claude AndrieuxPrésidenteInflam'oeilFR11.02.2008
R-161pdf(52 KB)Christina Fasser
Dr. Rainald von Gizycki
PresidentRetina International 11.02.2008
R-173pdf(87 KB)  Cystic Fibrosis Europe e.V. 12.02.2008
R-228 Choose translations of the previous link français (fr) Claudine Goze-Weber European Tarlov Cyst AllianceFR15.02.2008
R-238pdf(190 KB)J.G.LoeberPresidentISNS - The International Society for Neonatal Screening 13.02.2008
R-251 Choose translations of the previous link français (fr) Yvonne JoustenPrésidente
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
BE13.02.2008
R-276pdf(64 KB)Tsveta Schyns, PhDSecretary GeneralENRAH - European Network for Research on Alternating Hemiplegia 13.02.2008
R-308pdf(105 KB)Stuart ElbornPresidentEuropean Cystic Fibrosis Society 14.02.2008
R-319pdf(2 MB) Choose translations of the previous link Deutsch (de)   DEBRA Europe 14.02.2008
R-327pdf(132 KB)Séverine Trouillet European Haemophilia Consortium EU representation office 14.02.2008
R-329pdf(57 KB)Helen SeguraENERCA Project ManagerHospital Clinic i Provincial de Barcelona 14.02.2008
R-335pdf(69 KB)Peter StrengBoard member and representative on research and drug developmentEAMDA European Alliance of neuro-Muscular Disorders AssociationsMT14.02.2008
R-351pdf(62 KB)Dr Philippe SwennenProject ManagerAssociation Internationale de la MutualitéBE14.02.2008
R-355pdf(83 KB)Yannis VardakastanisPresident of EDFThe European Disability Forum 14.02.2008
R-367pdf(46 KB)Peter Bakkerbehalf of the board, as delegated administrator of FESCAEuropean federation of scleroderma associations, named FESCA 14.02.2008
R-388pdf(245 KB)Flaminia Macchia BangsgaardDirector for European Public AffairsEURORDIS - European Organisation for Rare DiseasesFR14.02.2008
R-430pdf(119 KB)Lieven BauwensIF co-ordinatorInternational Federation For Spina Bifida & HydrocephalusBE26.02.2008
R-439pdf(2 MB)  European Tarlov Cyst AllianceBE17.02.2008




Member states (national authorities)

 StakeholderFunctionOrganisationCountryDate
R-082pdf(53 KB)Stephen MifsudHealth and Consumer Affairs AttachéPermanent Representation of Malta to the European UnionMT01.02.2008
R-218pdf(60 KB) Choose translations of the previous link norsk (no) Lisbeth MyhreDirector, Rehabilitation and Rare Disorders DepartmentNorwegian Directorate for Health and Social AffairsNO15.02.2008
R-234pdf(70 KB) Choose translations of the previous link Nederlands (nl) Drs. H.R. HurtsDirectorMinisterie van Volksgesondheid, Welzijn en SportNL16.02.2008
R-246 Choose translations of the previous link français (fr) Marie-Aline BlochDirecteur scientifiqueCaisse nationale de solidarité pour l’autonomieFR13.02.2008
R-279pdf(83 KB)S. van Weely, Ph.D.Scientific officerDutch Steering Committee on Orphan DrugsNL13.02.2008
R-316pdf(87 KB)Jenny-Lee SpencerSenior European Policy ManagerNHS European Office - UK National Health ServiceUK14.02.2008
R-325 Choose translations of the previous link Deutsch (de) Malte EnderleinReferent Europäische GesundheitspolitikDeutsche Sozialversicherung EuropavertretungDE14.02.2008
R-354pdf(59 KB)Dr. Sándor János PhD (response from the workshop) Hungarian Ministry of HealthHU14.02.2008
R-356pdf(298 KB)Zvezdana Veber-HartmanHead, EU Affairs and International Cooperation ServiceMinistrstvo za zdravje/Ministry of Health - SloveniaSL14.02.2008
R-373pdf(69 KB) Choose translations of the previous link français (fr)
+ Annex Choose translations of the previous link français (fr)
Dr Michel RosenheimConseiller techniquePôle politiques de santé et prévention Cabinet de la Ministre de la Santé, de la Jeunesse & des SportsFR14.02.2008
R-419 Choose translations of the previous link Deutsch (de) Prof. Dr. med. Ch. Fuchs
i. A. Dr. med. F. Bäsler
 Bundesärztekammer Dezernat VI - Wissenschaft und ForschungDE14.02.2008
R-421pdf(60 KB) Choose translations of the previous link español (es) Isabel de la MataHealth CounsellorSpanish Permanent Representation to the EUES19.02.2008
R-431pdf(24 KB) Choose translations of the previous link Deutsch (de) Frank Niggemeier, Ph. D.Head of Division "General Affairs of the EU, EU Coordination"Federal Ministry for Health of GermanyDE27.02.2008
R-432pdf(58 KB)John RowanFirst Secretary (Health and Pharmaceuticals)United Kingdom Permanent Representation to the European UnionUK27.02.2008
R-440pdf(46 KB) Choose translations of the previous link dansk (da) Jakob Axel Nielsen
John Erik Pedersen
 Ministry Health PreventionDK28.02.2008
R-461pdf(87 KB) Choose translations of the previous link svenska (sv) Helène Dahl Fransson Social department- Swedish Ministry of Health and Social AffairsSE10.03.2008




International and European organisations

 StakeholderFunctionOrganisationCountryDate
R-112pdf(261 KB)Prof. K.Westermark
Mrs B Holm
Dr S Aymé
(COMP Chairman) (COMP Vice-Chairman) (RDTF Chair)EMEA / Committee for Orphan Medicinal Products (COMP)FR07.02.2008
R-154pdf(78 KB)  Standing Committee of European Doctors (CPME) 11.02.2008
R-195pdf(110 KB)  EuropaBio and EBE’s joint Taskforce on Orphan Medicinal Products 12.02.2008
R-225pdf(669 KB)Frank BoeyeChairman"Study group Brain Tumours Belgium"BE15.02.2008
R-252pdf(301 KB)Ivana SilvaPharmaceutical & Professional AffairsPharmaceutical Group of the European Union (PGEU) Representing European Community Pharmacists 13.02.2008
R-259pdf(196 KB)Francois DecailletSenior adviserWHO-Regional Office for Europe 13.02.2008
R-366pdf(139 KB)Chris DawsonLiaison Officer ESIPEuropean Social Insurance Platform and the Medicine Evaluation Committee (MEDEV) of the European Social Health Insurance Forum  
R-367pdf(46 KB)Pascal GarelChief ExecutiveHOPE European Hospital and Healthcare Federation 14.02.2008
R-375pdf(71 KB)Tobias S. HagedornSecretary of E.S.PKUE.S.PKU (European Society for Phenylketonuria and Allied Disorders treated as Phenylketonuria)DE14.02.2008
R-394pdf(61 KB)Kathy Pritchard-JonesPresident, SIOP EuropeSociété Internationale d’Oncologie Pédiatrique en Europe 14.02.2008
R-396pdf(79 KB)Ute WallentinOIFE PresidentOsteogenesis Imperfecta Federation Europe (OIFE) 14.02.2008
R-404pdf(917 KB)Nanca Cebron LipovecEPSA Public Health Working Committee DirectorEuropean Pharmaceutical Students' Association (EPSA) 14.02.2008
R-406 Choose translations of the previous link svenska (sv) Jan-Inge Henter International Conference of Rare Diseases and Orphan DrugsSE14.02.2008
R-408pdf(52 KB)Martina CornelChairPublic and Professional Policy Committee of the European Society for Human GeneticsNL14.02.2008
R-423pdf(140 KB)Hildrun SundsethHead of EU PolicyEuropean Cancer Patient CoalitionBE14.02.2008
R-426pdf(224 KB)Maria BrandaoConsultant to EASLEuropean Association for the Study of the Liver (EASL)CH19.02.2008
R-429pdf(231 KB)Elisabeth KasilingamAssistant Policy OfficerEuropean Patients' ForumBE25.02.2008




Commercial organisations, companies and their associations

 StakeholderFunctionOrganisationCountryDate
R-040pdf(39 KB)P. Dupuy, MDPresidentOrfagenFR15.01.2008
R-179pdf(146 KB)Eva MalongSekretariat Forschung, Entwicklung & Innovation/BiotechnologieVerband forschender arzneimittelhersteller E.V.DE12.02.2008
R-180pdf(121 KB)Leonardo VingianiManaging DirectorAssobiotec - the Italian Association for BioindustriesIT12.02.2008
R-191pdf(52 KB)Kevin LothDirector, Professional RelationsPharmion LtdUK12.02.2008
R-194pdf(78 KB)Dr. Karin HeidenreichSenior Public Affairs ManagerNovartis European Public Affairs>BE12.02.2008
R-201pdf(93 KB)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-202pdf(82 KB)Wills Hughes-WilsonDirector, Health Policy EuropeGenzyme 12.02.2008
R-212pdf(149 KB)  Bundesverband Medizintechnologie e.V. - BVMedDE15.02.2008
R-214 Choose translations of the previous link français (fr) Dr. Kevin LothDirector, Professional relationPharmion Ltd. 15.02.2008
R-257pdf(68 KB)Anna LudwinekPublic Affairs ExecutiveEucomedBE13.02.2008
R-263pdf(221 KB)Vanessa Alfaro RibeiroProject coordinatorAPBio - Associação Portuguesa de BioindústriasPT13.02.2008
R-277pdf(121 KB)Joseph WildyEU Public Affairs ManagerEuropaBio, the BIA European Biopharmaceutical Enterprises (EBE) 13.02.2008
R-280pdf(208 KB)Johan PrévotAssistant Director, Public AffairsPPTA Europe (Plasma Protein Therapeutics Association) 13.02.2008
R-311pdf(62 KB)Dr Richard TinerMedical DirectorAssociation of the British Pharmaceutical Industry (ABPI)UK13.02.2008
R-330pdf(62 KB)Jeanette Nenniger F. Hoffmann-La Roche LtdCH14.02.2008
R-332pdf(40 KB)Ashish AgarwalFounder DirectorONCO Life Sciences (India)IN14.02.2008
R-350pdf(47 KB)Françoise RossiRegulatory Strategy and Development DirectorLFB BiotechnologiesFR14.02.2008
R-360pdf(356 KB)Toon DigneffeGovernment Affairs & Public Policy Director, European AffairsBaxterBE14.02.2008
R-362pdf(2 MB)Clare HellowellSenior Administrative Assistant Government AffairsGilead SciencesUK14.02.2008
R-374pdf(92 KB)Raquel Álvarez FernándezResponsable de Soporte a Socios Secretaría GeneralASEBIO - Spanish Associated of BioenterprisesES14.02.2008
R-420pdf(172 KB)Katia FinckDirector Public Affairs & Market Access EuropeShire Human Genetic Therapies (SHGT)ES18.02.2008




Universities and other experts

 StakeholderFunctionOrganisationCountryDate
R-012pdf(40 KB)Assoc. Prof. Ludovit Kádasi, D.Sc.President of SSMGDept. Molecular Biology, Comenius UniversitySK13.12.2007
R-037pdf(41 KB) Choose translations of the previous link italiano (it) dott. Pietro Cavalli, MD Servizio di Genetica Azienda Istituti OspitalieriIT15.01.2007
R-045pdf(40 KB)Prof. Milan Macek and Prof. Petr Goetz Czech Society for Medical Genetics /University Hospital Motol and 2nd School of Medicine Charles University PragueCZ18.01.2008
R-053pdf(38 KB)Sabine Krause, MD, PhD Labor für Molekulare Myologie Friedrich-Baur-Institut Neurologische Klinik und Poliklinik Ludwig-Maximilians-UniversitätDE23.01.2008
R-065pdf(43 KB) Choose translations of the previous link svenska (sv) Mikael Rolfs Socialdepartementet Sveriges regering StockholmSE07.01.2008
R-066 Choose translations of the previous link français (fr) Pr. F. Gottrand Clinique de Pédiatrie, CHRU de Lille, Faculté de Médecine, Université de Lille2FR29.01.2008
R-070pdf(39 KB) Choose translations of the previous link italiano (it) Prof. Bruno DallapiccolaCoordinatore del progetto Orphanet-ItaliaGenetista Medico - Istituto MendelIT30.01.2008
R-075pdf(37 KB) Choose translations of the previous link français (fr) Pr Alain Verloes Dept de Génétique, Hôpital R DebreFR31.01.2008
R-090pdf(42 KB)  Flemish Hospital PharmacistsBE14.12.2007
R-099 Choose translations of the previous link français (fr) Pr Arnaud Basdevant Pôle d’Endocrinologie-Diabétologie-Nutrition- Métabiolisme Hôpital de la pitié salpêtrière ParisFR05.02.2008
R-136pdf(77 KB)Luisa María BotellaStaff Researcher of CSICSpanish HHT unitES09.02.2008
R-106pdf(51 KB)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 ManchesterUK07.02.2008
R-110pdf(54 KB)Prof.dr. Cornelis JakobsHead Metabolic UnitDept Clinical Chemistry, PK 1X 014 VU University Medical Center AmsterdamNL08.02.2008
R-120pdf(252 KB)Prof. dr. P.J.J. SauerHead pf DepartmentUniversity Medical Center Groningen – Department of Pediatrics 05.02.2008
R-128pdf(234 KB)Dr. Stephen LynnTREAT-NMD Project ManagerInstitute of Human Genetics Newcastle UniversityEN08.02.2008
R-140pdf(46 KB)Martina CornelDutch Orphanet project leaderOrphanetNL09.02.2008
R-155 Choose translations of the previous link français (fr) Annie OLRY Orphanet INSERM SC11FR11.02.2008
R-159pdf(50 KB)Prof. Dr. med. Joerg SchmidtkeDirektorInstitut fuer Humangenetik Medizinische Hochschule HannoverDE11.02.2008
R-205pdf(39 KB) Choose translations of the previous link español (es) Jolanta Sykut-Cegielska, MD, PhD, Ass. Prof.Head of the Department of Metabolic Diseases, Endocrinology and DiabetologyChildren’s Memorial Health InstitutePL12.02.2008
R-221pdf(411 KB)Prof. Dr. Cornelis JakobsChairman of the SSIMThe society for the study of inborn errors of Metabolism – VU University Medical Center AmsterdamNL15.02.2008
R-230pdf(100 KB)M.D. Darin Niklas PhDAssistant ProfessorThe Qeen Silvia Children's hospital, Neurology, PsychiatrySE15.02.2008
R-231pdf(125 KB)Prof Dr Jos van RoosmalenChairman of the national maternal mortality committeeLeiden University Medical Centre, department of ObstreticsNL15.02.2008
R-254pdf(46 KB)Prof Philip D Mayne MD, FRCPI, FRCPathDirectorNational Newborn Screening Laboratory - Childrens University Hospital, Limited Liability Company (Limited by Shares), Dublin.IE13.02.2008
R-256pdf(188 KB)Priv.-Doz. Dr. Maggie WalterMD-NET Coordination and InformationGerman Muscular Dystrophy Network
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik
DE13.02.2008
R-260pdf(48 KB)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,UK13.02.2008
R-261pdf(42 KB)G. Pfliegler MD Division Rare Diseases 2nd Dept. Med. University of DebrecenHU13.02.2008
R-273 Choose translations of the previous link suomi (fi) Riitta Salonen, MD, PhDHead of the DepartmentDepartment of Medical Genetics Väestöliitto, Family Federation of FinlandFI13.02.2008
R-274pdf(63 KB)Prof Babill Stray-PedersenProfessor IUniversity of Oslo, Faculty of Medicine Department of Obstetrics and Gynaecology, Rikshospitalet-RadiumhospitaletNO12.03.2008
R-282pdf(92 KB)Prof. Dr. Paola Facchin MD PhD Veneto Region Registry for Rare Diseases Epidemiology and Community Medicine Unit Paediatrics Department Padua UniversityIT13.02.2008
R-303 Choose translations of the previous link polski (pl) Prof. Wanda Kawalec Department of Cardiology Children's Memorial Health InstitutePL14.02.2008
R-304pdf(61 KB)Sophie Duport, PhDResearch Governance ManagerThe Royal Hospital for Neuro-disabilityUK14.02.2008
R-305 Choose translations of the previous link français (fr) Docteur Hubert JOURNEL Généticien, pour le Groupe Folate FranceFR14.02.2008
R-307pdf(62 KB)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 HospitalBE14.02.2008
R-334pdf(41 KB)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
DK14.02.2008
R-336pdf(59 KB)Bengt Frode Kase
Liv Tønnesen
Head of Centre for Rare Disorders
Senior Counsellor
Rikshospitalet University HospitalNO14.02.2008
R-337pdf(39 KB)Louise TaylorEditor, OrphaNews EuropeThe EC Rare Diseases Task Force Newsletter
ORPHANET Hôpital Broussais INSERM SC11
FR14.02.2008
R-339pdf(49 KB)Helen DolkProfessor of Epidemiology and Health Services Research EUROCAT Project LeaderUniversity of UlsterUK14.02.2008
R-341 Choose translations of the previous link français (fr) Dr François LETERRIER AFM, Institut de Myologie Hôpital Pitié-SalpêtrièreFR14.02.2008
R-343pdf(103 KB)Group of Experts Rarecare projectIT14.02.2008
R-345 Choose translations of the previous link français (fr) Pr Claude Griscelli Fondation Imagine Institut des maladies génétiquesFR14.02.2008
R-346pdf(101 KB)Prof. Johann Bauer, MD Division of Molecular Dermatology and eb house austria Department of Dermatology Paracelsus Private Medical University SalzburgDE14.02.2008
R-347pdf(88 KB)Mr Simon LandConsultations & Committee Services ManagerProfessional Affairs Department Royal College of PhysiciansUK14.02.2008
R-361pdf(62 KB)Dr. Florence Roufosse Department of Internal Medicine, Erasme Hospital, Brussels, Belgium Institute for Medical Immunology, Gosselies, BelgiumBE14.02.2008
R-363pdf(81 KB)Pascale BlaesDirector ESMO Brussels Office, Political Affairs, Director ESMO FoundationEuropean Society for Medical Oncology (ESMO)BE14.02.2008
R-365 Choose translations of the previous link italiano (it) Dr. Giulio Panizza Servizio Economia e Programmazione sanitariaIT14.02.2008
R-370pdf(80 KB) Communications and Public Affairs TeamRehab GroupIE14.02.2008
R-384pdf(97 KB)Jorge SequeirosPresidentMedical Genetics College, at the Portuguese Medical Association (Ordem dos Médicos)PT14.02.2008
R-389pdf(51 KB)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-403pdf(78 KB)Prof. B. Fowler, Ph.D.Head of LabsMetabolic Unit
University Children's Hospital Basel (UKBB)
CH14.02.2008
R-405pdf(41 KB)Prof. Ivo Kremensky, MD, PhDHeadNational Genetic Laboratory
University Hospital of Obstetrics, Coordinator, Molecular Medicine Center, Medical University of Sofia
BG14.02.2008
R-407pdf(41 KB)Günter Fasching, M.D. Prof. of Paediatric Surgery Dept. of Paediatric Surgery, General Hospital KlagenfurtAT14.02.2008
R-416pdf(105 KB)Mojca Zerjav Tansek, MD University Children's Hospital
Department of Endocrinology, Diabetes and Metabolic Diseases
SL17.02.2008
R-422 Choose translations of the previous link Deutsch (de)   Arbeitsgemeinschaft für angeborene Stoffwechselstörungen in der Inneren MedizinDE19.02.2008
R-428pdf(39 KB)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 HospitalIE19.02.2008


Reference Centres

 StakeholderFunctionOrganisationCountryDate
R-010 Choose translations of the previous link français (fr) 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
FR06.02.2007
R-096 Choose translations of the previous link français (fr) Professeur Jean-François CORDIER Service de Pneumologie – Centre de référence des maladies orphelines pulmonairesFR05.02.2007
R-156 Choose translations of the previous link français (fr) Professeur Eric HACHULLACoordonnateurCentre de Référence des Maladies Auto-immunes et Maladies Systémiques Rares "Sclérodermie Systémique"FR11.02.2007
R-160 Choose translations of the previous link français (fr) Dr Isabelle Thuret
Dr Catherine Badens
CoordonnatriceCentre Maladies Rares ThalassémieFR11.02.2007
R-171pdf(161 KB)Mrs. Marieta Igarenska, MPsychProject Coordinator InformationCentre for Rare Diseases and Orphan Drugs Bulgarian Association for Promotion of Education and ScienceBG11.02.2007
R-187 Choose translations of the previous link polski (pl) Miros?aw Zieli?skiPrzewodnicz?cyKrajowe
Forum na rzecz terapii chorób rzadkich ORPHAN
PL12.02.2007
R-324 Choose translations of the previous link dansk (da) Annette SängerCand.CommCenter for Rare Diseases and DisabilitiesDK14.02.2007
R-353pdf(82 KB)Elaine LammasResearch and Policy AdvisorIrish Platform for Patients' Organisations, Science and IndustryIE14.02.2007
R-379 Choose translations of the previous link français (fr) Sylvie OdentCoordonnateur du centre de référence "maladies rares" anomalies du développement et syndromes malformatifs" de l'OuestGénétique Médicale Hôpital SUDFR14.02.2007
R-381 Choose translations of the previous link français (fr) 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 MaladesFR14.02.2007
R-383pdf(41 KB)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 ElenaIT14.02.2007
R-402pdf(61 KB)Dr. F. Eyskens Department of Metabolic Diseases, CEMA-AntwerpBE14.02.2007
R-424 Choose translations of the previous link français (fr) Pr. Henri Plauchu et Dr. Sophie Dupuis-Girod Centre de Référence "Maladie de Rendu-Osler"FR19.02.2007
R-427pdf(93 KB)Dott.ssa Daniela Settesoldi Agenzia Italiana del Farmaco – AIFA Italian Medicines AgencyIT19.02.2007
R-434 Choose translations of the previous link français (fr) Pr. Christian HAMEL, M. Jerez LaurentLe coordonnateur AdministatifCHU – Centre Hospitalier UniversitaireFR17.02.2007


Researchers

 StakeholderFunctionOrganisationCountryDate
R-023pdf(38 KB)Rosario PeronaAssociate ProfessorInstituto de Investigaciones Biomédicas CSIC/UAM Translational Oncology Unit CSIC/H. La PazES27.12.2007
R-264pdf(2 MB)Dr. Pauline EversProject Manager Treat-NMDEuropean Neuromuscular Centre 13.02.2008
R-278pdf(48 KB)Silvio Garattini The Clinical Research Center for Rare Diseases (CRCRD) Aldo e Cele DaccòIT13.02.2008
R-291pdf(52 KB)Prof. Martina CornelChairPublic and Professional Policy Committee of the European Society for Human GeneticsNL13.02.2008
R-310pdf(42 KB)Dr T.Kyriakides MB, ChB,Bsc(Hons)Senior Consultant Neurologist DirectorNeuropathology Lab
Cyprus Institute of Neurology and Genetic
CY14.02.2008
R-364 Choose translations of the previous link français (fr) Dr. Anne-Marie MasquelierChief Executive OfficerGenethonFR14.02.2008


Others

 StakeholderFunctionOrganisationCountryDate
R-006 Choose translations of the previous link italiano (it) Gianni Capezzuoli  IT01.12.2007
R-007 Choose translations of the previous link italiano (it) Giovanna Danieli  IT03.12.2007
R-009 Choose translations of the previous link español (es) Carmen Navas  ES13.12.2007
R-013 Choose translations of the previous link română (ro) Mihaela Andonesei  RO13.12.2007
R-018 Choose translations of the previous link français (fr) Mélodie Chevalier  FR19.12.2007
R-019pdf(41 KB)Robert Veres   23.12.2007
R-020pdf(40 KB)Lupas Delia   23.12.2007
R-028 Choose translations of the previous link français (fr) Florence Giroud   03.01.2008
R-035 Choose translations of the previous link français (fr)   International Labour office - GenèveCH07.01.2008
R-047 Choose translations of the previous link français (fr) Jean-Raphaël Miron  FR19.01.2008
R-050 Choose translations of the previous link français (fr) D. Malon  FR22.01.2008
R-054 Choose translations of the previous link français (fr) Docteur Dany Galliano Génétique MédicaleFR23.01.2008
R-056 Choose translations of the previous link français (fr) Dr. J. Fabre  FR24.01.2008
R-058 Choose translations of the previous link français (fr) polski (pl) Bernard Gubarewicz  PL26.01.2008
R-063pdf(108 KB) Choose translations of the previous link polski (pl) Marek Kramarski  PL28.01.2008
R-064 Choose translations of the previous link français (fr) Nuchanard Chiannilkulchai PH. D.  FR28.01.2008
R-067 Choose translations of the previous link français (fr) Serge Trevidic  FR29.01.2008
R-076 Choose translations of the previous link français (fr) Christiane et Jean Mallet  FR31.01.2008
R-078 Choose translations of the previous link français (fr) France Caelen  FR31.01.2008
R-079 Choose translations of the previous link français (fr) Anne et Eric Martin  FR31.01.2008
R-084 Choose translations of the previous link français (fr) Jean Claude  FR02.02.2008
R-086 Choose translations of the previous link Deutsch (de) Brigitte Seuser  CH04.02.2008
R-095 Choose translations of the previous link français (fr) Brigitte Schustermann  FR05.02.2008
R-102 Choose translations of the previous link polski (pl) Natalia Strzyzewska  PL06.02.2008
R-104 Choose translations of the previous link français (fr) Dr Pascale Sarni-Manchado CR1 INRAFR06.02.2008
R-117 Choose translations of the previous link français (fr) Gilles Archambault  FR05.02.2008
R-121 Choose translations of the previous link français (fr) Jeanne Herrscher  FR28.01.2008
R-126 Choose translations of the previous link français (fr)    FR01.02.2008
R-131 Choose translations of the previous link français (fr) Paulette Morin  FR08.02.2008
R-181 Choose translations of the previous link français (fr) Win Bayano  FR12.02.2008
R-198 Choose translations of the previous link polski (pl) Edyta Krolik  PL12.02.2008
R-203 Choose translations of the previous link français (fr) Nathalie Heral  FR12.02.2008
R-216 Choose translations of the previous link français (fr) Marie-Helene Weinachter  FR15.02.2008
R-224 Choose translations of the previous link français (fr)    FR15.02.2008
R-239 Choose translations of the previous link français (fr) Colette Girardot   12.02.2008
R-253 Choose translations of the previous link polski (pl)    PL13.02.2008
R-266 Choose translations of the previous link polski (pl)    PL13.02.2008
R-284 Choose translations of the previous link português (pt) Inês Leal de Faria  PT13.02.2008
R-288 Choose translations of the previous link español (es) Genoveva Lopez Garcia   13.02.2008
R-306 Choose translations of the previous link français (fr) Doris Filippin-Monnet  CH14.02.2008
R-309 Choose translations of the previous link français (fr) Sabine Viand  CH14.02.2008
R-331 Choose translations of the previous link français (fr) Sylvie Fay  FR14.02.2008
R-349 Choose translations of the previous link polski (pl)   Dorota i Robert ?abczakPL14.02.2008
R-368 Choose translations of the previous link français (fr) Freddy Pepelnjak  FR14.02.2008
R-372 Choose translations of the previous link français (fr) Docteur Philippe Henry La Prothèse GénéraleFR14.02.2008
R-376pdf(38 KB)Vesa Nopanen   14.02.2008
R-378 Choose translations of the previous link български (bg) Pavel Dessy  BG14.02.2008
R-385 Choose translations of the previous link suomi (fi) Arja Nurmela ja Virpi Tanskanen   14.02.2008
R-409 Choose translations of the previous link français (fr) Catherine Mollard  FR14.02.2008
R-438 Choose translations of the previous link español (es)    FR14.02.2008
R-453 Choose translations of the previous link polski (pl) Maria Irena Sterna  PL14.02.2008
R-454 Choose translations of the previous link polski (pl) Kazimierz Owczarek  PL14.02.2008
R-455 Choose translations of the previous link polski (pl) Jadwiga Socha  PL14.02.2008
R-456 Choose translations of the previous link polski (pl) Tomasz Bobrowski  PL14.02.2008
R-457 Choose translations of the previous link polski (pl) Andrzej Strzy?ewski  PL14.02.2008
R-458 Choose translations of the previous link polski (pl) Beata Ko?li?ska  PL14.02.2008