 |
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 Lymphangioléiomyomatose) |
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 Czyż
|
|
Stowarzyszenie rodzin z chorobą 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 zChorobą Fabry'ego
|
PL |
10.02.2008 |
| R-142
|
Wioleta Łabno
|
|
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 Mukopolisacharydozę i Choroby Pokrewne
|
PL |
12.02.2008 |
| R-178
|
Maria Widalska
|
|
Stowarzyszenie Chorych na Mukopolisacharydozę 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
|
Paweł Wójtowicz
|
Prezes Zarządu
|
Fundacja Pomocy Rodzinom i Chorym na Mukowiscydozę 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 Mukopolisacharydozę 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
|
Stanisław Maćkowiak
|
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 Czyż
|
|
Stowarzyszenie rodzin z chorobą fabry'ego
|
PL |
08.02.2008 |
| R-448
|
Ewa Rogozińska
|
|
Stowarzyszenie rodzin z chorobą fabry'ego
|
PL |
08.02.2008 |
R-449
R-449b
R-449
|
Anna Winska
Piotr Szulc
Agniszka Szulc
|
|
Stowarzyszenie Chorych na Mukopolisacharydozę i Choroby Pokrewne
|
PL |
14.02.2008 |
| R-450
|
Pawel Oswiecinski
|
|
Stowarzyszenie Rodzin z Choroba Gauchera
|
PL |
14.02.2008 |
| R-451
|
Pawel Chorąży
|
|
Fundacja Gajusz
|
PL |
14.02.2008 |
| R-452
|
Dorota Nawrot Rudnicka
Jan Kawalec
|
|
Stowarzyszenie Marfan Polska
|
PL |
14.02.2008 |
| R-459
|
Iwona Ziobro-Boroń,
Teresa Zajda, Sławomir Weihs, Krzysztof Wiktor, Wacława Werpachowska, Lidia Witos, Aleksandra Truskolawska, Małgorzata Tomaszczyk, Katarzyna Topuszek, Monika Sołtysik, Marta Stefanek, Wiesława Stankiewicz, Michal Rzepka, Renata Gwozdowska-Rutka, Renata Rucińska, Marta Łukasik, Agnieszka Pietrucha, Adam Pawlikowski, Hanna Pinkowska, Iwona Ostrowska, Barbara Nowicka,
Renata Michalik,
Magdalena Maciejewska-Sordyl, Agnieszka Mokrzycka, Małgorzata Magowska, Mariola Milewska, Marek Libera, Anna Lamprycht, Krzysztofa Laska, Małgorzata Kuś, A. Kost, Jan Krzyśko, J. Kulisiak-Kaźmierczak, A. Korajda, Ewa Juskowiak-Krystkowiak, M. Kulesza, D. Komejsza, J. Jabłoński, B. Julkowska, C. Jopek, A. Jarzęcka, M. Jędrzejewski, V. Jagiełło, A. Garczowska, A. Grzenkowicz, B. Dombrzalski, A. Dropiński, K. Cicha, Z. Czerska, J. Binkiewicz, M. Bień, A. Bargman, B. Baranowska, T. Szymczak-Idziak, U. Czarnota, E. Sikora, T. Maćkowiak, 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. Reczyńska, A. Romańska, K. Mazurkiewicz, B. KAPTURCZAK, Teresa Matulka, Justyna Matulka, Anna Pruszyńska, Krzysztof Santarek, Janusz Sztankiewicz, A. Santarek, K. SOSINSKI, W. SOSINSKA, B. SOSINSKA, P. SZTANKIEWICZ, N. Piechocińska, B. KAPTURCZAK, M. MUSIELAK, Ewa Molik, Jolanta Szcezesnik, A. Bozek
|
|
MPS I Choroby Rzadkie
|
PL |
14.02.2008 |
|
|
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 |
|
|
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 |
