Andel’s Hotel, Berlin, Germany List of Participants

7th European Conference onRare Diseases & Orphan Products

The Rare Disease Puzzle: Bringing the Picture to Life08-10 May 2014

Andel’s Hotel, Berlin, Germany

List of Participants

A conference organised Co-organised

20134309D03-00OTHGBIS_List of participants

2

Last Name First Name Company Country

Aarum Stiina European Medicines Agency United KingdomAdams Christoph Cydan Development, Inc. United States Adjibi Yolande Orphan dev France Agarwal Sonalee Biogen Idec United States Aijmer Rydsjö Celia Göteborgs Universitet Sweden Aksnes Stein Are Oslo University Hospital, Norwegian Resource Services on Rare Diseases Norway Alahouzou Zoe EURORDIS France Ala-Mello Sirpa Rinnekoti Foundation Norio Centre Finland Alastalo Tero-Pekka Blueprint Genetics FinlandAleksovska Stojmirova Vesna Life With Challenges Former Yugoslav Republic Of Macedonia Ali Farhana Rare Diseases UK United Kingdom Allcorn Richard Comradis United Kingdom Alonso Veronica Rare Disease Resarch Institute Spain Alsmeier Gerhard VHL Germany Germany Ambrosini Anna Fondazione Telethon Italy Ancochea Alba The Spanish Federation of Rare Diseases (FEDER) Spain Andric Adriana Croatian Agency for Medicinal Products and Medical Devices Croatia (Hrvatska) Andrusova Ekaterina National Association of organissations Russian Federation Angin Celine APHP BNDMR France Aras Luis Miguel Dravet Syndrome Foundation Spain Arellanesova Anna Czech Cystic Fibrosis Association Czech Republic Arnould Benoit Mapi FranceArreghini Lidia Novartis Region Europe Italy Ashton Sharon EURODIS France Astray Mochales Jenaro Area of Epidemiology, Health Department Spain of the Autonomous Government of Madrid Atalaia Antonio Eucerd Joint Action United Kingdom Ayme Segolene Orphanet-Inserm France Babac Ana Hannover University, Institut für Versicherungsbetriebslehre Germany Badenoch Charlotte EURORDIS France Baede Patricia Kinesis Pharma B.V. Netherlands Baggi Fulvio AIM Associazione Italiana Miastenia Grave ONLUS - Milano Italy Baleydier Claudie A.F.A.F France Barisic Ingeborg Children's University Hospital Zagreb Croatia (Hrvatska) Barman-Aksözen Jasmin Swiss Society for Porphyria (SGP) Switzerland Barrett Timothy Birmingham Children's Hospital United Kingdom Barske Julia Kindness for Kids Germany Bartholomew Victoria Dancing Eye Syndrome Support Trust United Kingdom Bathen Trine TRS national resource centre for rare disorders, Sunnaas rehabilitation Hospital Norway Bauer Peter University of Tuebingen Germany Beales Philip UCL Institute of Child Health United Kingdom Beaverson Katherine Pfizer, Inc. United States Bednarz Marcelina Polish National Alliance ORPHAN Poland Beekhuizen Niels ORION Clinical Services United Kingdom Bellagambi Simona UNIAMO Italy Bellandi Michele Shire International GmbH Switzerland Belyakov Denis RICOoDB “Union of patient and patient’s organization with rare diseases” Russian Federation Bera Lena CSL Behring Germany Berckmans Vinciane H.A.E. Belgium Belgium Berglöf Anna Karolinska Institutet Sweden Berglund Britta Rare Diseases Sweden Sweden Bergsaker David Frambu Resource Centre for Rare Disorders Norway Bertrand Thomas Association Francaise du Syndrome de Rett (AFSR) France Bevec Dorian Switzerland Bignami Fabrizia GlaxoSmithKline United Kingdom Billmeyer Brett LAL Solace United States Björkerud Stina Göteborgs Universitet Sweden Bladen Catherine TREAT-NMD United Kingdom Blandin Gaelle Aix-Marseille University Inserm UMR_S910 France Blichfeldt Susanne Danish Prader-Willi Association Denmark Bloechl-Daum Brigitte Medical University of Vienna / Department of Clinical Pharmacology Austria Bojtor Pogányné Zsuzsanna HUFERDIS / HWSA Hungary Bok Amanda European Haemophilia Belgium Bokolishvil Ana Georgian Foundation for genetic and rare diseases Georgia Bokta Signe National Healt Service Latvia Boncz Beata Hungarian Williams Syndrome Association Hungary Bonjean Jill EURORDIS France Borton Eliza inVentiv Health United Kingdom Borzacchiello Camillo Stabilimento Chimico Farmacutico Militare Italy Bosanska Lenka Charite Universitaetsmedizin Berlin,Centre of Excellence for Rare Metabolic Dis. Germany Bottarelli Valentina EURORDIS France Boudes Mathieu EURORDIS France Bovy Nathalie Radboud University Medical Center, Nijmegen Netherlands Boycott Kym Childrens Hospital of Eastern Ontario Research Institute Canada Boysen Henrik Balle HAEi Denmark Braun Serge AFM (Association Francaise contre Les Myopathies) France Brazier Joanne Canterbury Christ Church University United Kingdom

20134309D03-00OTHGBIS_List of participants

3

Last Name First Name Company Country

Bruckner-Tudermann Leena University Medical Center Germany Brunsmann Frank Achse, E.V. Germany Brunstetter Frank Medeva Pharmaceuticals United States Buchberger Sophie Frankfurt University Hospital Germany Buisson Anne Association François Aupetit France Bundgaard Nanna Baumann NF Denmark Denmark Bushby Katharine Newcastle Upon Tyne Hospital United Kingdom Butzeck Barbara EFAPH Germany Cagniard Barbara IRDiRC France Campabadal Marta EURORDIS France Campion Giles Prosensa Netherlands Capkova Hana Shire Czech Republic Carganico Germano Pharma Quality Europe Italy Carl Patricia Bundesverband Kleinwuchsige Germany Carrion Tudela Juan FEDER Spain Carroll Geoffrey Welsh Health Specialised Services United Kingdom Castro Raquel EURORDIS France Cederroth Helene Wilhelm Foundation Sweden Cederroth Mikk Wilhelm Foundation Sweden Celano Antonella APMAR ONLUS Italy Chantelot Emmanuel Shire Belgium Chappell Lara EURORDIS France Chassang Gauthier INSERM France Chicano Gema FEDER Spain Chin Alex AstraZeneca United States Choquet Remy Necker Hospital for Children France Ciampa Serena Ospedale Pediatrico Bambino Italy Cichy Wojciech Polish Foundation Matio Poland Clarinval Caroline Federal Office of Public Health Switzerland Coccetti Amanda Arcoiris onlus Italy Colombo Daniele Zambon S.P.A Italy Cooper Suzy FEWS United Kingdom Corrochano Virginia Ciber Spain Cortelazzo Alessio Azienda Ospedaliera Universitaria Senese Italy Costantino Nadia BOKS Belgium Costello Denis EURORDIS France Courtois Francoise EFAPH European Federation of Associations of Patients with Haemochromatosis France Covic Nikolina Croatian Alliance for Rare Diseases Croatia (Hrvatska) Cox Timothy University of Cambridge United Kingdom Crocco Gerline Selbsthilfegruppe für PXE-Erkrankte Deutschlands e.V. Germany Crocione Claudia HHT Onlus Italy Csimma Cristina Wyeth Research United States Cuddy Brendan European Medicines Agency United Kingdom Cuk Karmen DEBRA Slovenia Slovenia Daby Sabine DEBRA Germany Germany Dallapiccola Bruno Ospedale Pediatrico Bambino Gesu Italy Daly Avril Fighting Blindness Ireland D'Amato Sizonenko Loredana Orphanet Switzerland Switzerland Dan Dorica Romanian Prader Willi Association Romania Darapolska Anzelika National Health Service Latvia Dart John DEBRA UK United Kingdom Daturi Alessia Telethon Fondazione Italy Davies Eleanor Biogen IDEC United Kingdom Dávila Vanegas Magdalena Deutsches Institut für Medizinische Dokumentation und Information (DIMDI) Germany De Baere Lut BOKS Belgium De Boeck Kris European CF Society, Clinical Trial Network Belgium De Cecco Mariolino University of Trento Italy de Chalendar Myriam Orphanet France de Kalbermatten Christine ProRaris Switzerland de Knecht-van Eekelen Annemarie VSOP Netherlands de Lary de Latour Thibault Alexion Services Europe SPRL Belgium De Lillo Anna Quintiles United States de Montleau Béatrice Association francaise contre les Myopathies France De Ridder Ri RIZIV-INAMI Belgium De Santis Marta Istituto Superiore di Sanità, National Center for rare Diseases (Rome) Italy Delli Zotti Marco Pro-Test Italia Germany Denzel Christiane Genzyme Corporation United States Derks Mareike Orphanet, Institute of Human Genetics Germany Di Giacinto Martina Orphanet Italy Di Pardo Alba IRCCS Neuromed Italy Dierking Anna Institute of Human Genetics, Hannover Medical School Germany Dignan Terry EURORDIS Ireland Dobosz Paula Instytut Genetyki Generacja Poland Dollfus Helene Hôpital de Hautepierre France Dooms Marc University Hospitals Leuven Belgium Du Plessis Kelly Rare DIsease Society of SA South Africa Duboka Davor National Organisation for Rare Diseases of Serbia Serbia Duguet Christophe AFM-TELETHON France

20134309D03-00OTHGBIS_List of participants

4

Last Name First Name Company Country

Dupont Alain Vrije Universiteit Brussel, Faculty of Medicine and Pharmacy Belgium Dziargama Justyna Polish National Alliance ORPHAN Poland Eatwell Emma Sobi Belgium Eckelmann Norbert SHG Glykogenose Germany Eisenberg-Geginat Monika European Dysmelia Reference Information Centre (ED Germany Elbers Rembert BfArM Germany Esposito Antonella Angeli Noonan Italy Evangelista Teresinha Eucerd Joint Action United Kingdom Evers Pauline Federation of Cancer Patient Organisations Netherlands Exner Alexander German Federal association of vascular birth deformities Germany Fall Doudou STABILITY OF REORIENTATION AND WELL BEIN Gambia Fandrup Sven Rare Disorders Denmark Denmark Fantacci Piero MENARINI RICERCHE S.p.A. Italy Faria Ines Alianca Portuguesa associacoes doencas raras Portugal Farndon Peter NHS National Genetics Education & Development Centre United Kingdom Favresse Roseline French Foundation for rare diseases France Feider-Rohen Shirley ALAN asbl Luxembourg Feldman-Cegiela Arleta Team Sanfilippo Poland Fenton Brian Shire Human Genetic Therapies United States Fernandez - Aldeguer Isabel D'Genes Spain Fernandez de Gamboa Marta Asociacion nacional Amigos de Arnold Chiari ANAC Spain Fernández González José María CNIO (Spanish National Cancer Research Centre) Spain Ferrara Fabio Teofarma SRL Italy Ferrari Pisana PHA Europe, European Pulmonary Hypertension Association Austria Ferrelli Rita Maria Italy Fladrowski Carla European Tuberous Sclerosis Complex Association (E-TSC) Italy Foltanova Tatiana Slovak RD Aliance Slovakia Fontaine Alain Alliance Maladies Rares France Forni Claudia Zambon S.P.A. Italy Franck Kristina Rinnekoti Foundation, Norio center Finland Francot Raymond Vertex Pharmaceuticals GmbH Germany Frazzica Rosa National Centre for Rare DiRespseases/National Institute of Health Italy Frisch Barbara Novartis Pharma AG Switzerland Frydman Moshe AT-association Israel Furlong Patricia Parent Project Muscular Dystrophy United States Gajewski Maciej Shire Belgium Gallupi Renza UNIAMO Italy Galvani Lisa Unione Italiana Ittiosi Italy Gannon Ben Vertex Pharmaceuticals Germany Germany Gardsäter Maria Rare diseases Sweden Sweden Gatermann Ruediger CSL Behring Germany Gecchele Elisabetta Acondroplasia Insleme per Crescere Italy Geissler Jan Leukämie-Online e.V Germany Gentile Amalia Egle Istituto Superiore di Sanità - National Centre for Rare Diseases Italy Gentile Patrizia XLPDR International Association ONLUS Italy Gerlach Barbara Federal Ministry of Health Germany Gertis Pol Federal Public Service Health Belgium Ghile Emanuela Asociatia Prader Willi Romania Romania Gill Kevin Open App Ireland Ginaldi Natalia ALCAP France Gliksohn Florian Genespoir Czech Republic Gluck Adam Biogen Idec Inc. United States Godfrey Josie National Institute for Health and Care Excellence (NICE) United Kingdom Goetz Diane PTC Therapeutics Inc United States Gomez Beatriz Ciber, Rare Disease Area Spain Gorry Philippe University of Bordeaux France Goulart Megan Vertex Pharmaceuticals Switzerland Gradinaru Sorin Associatia Copilul Meu-Inima Mea Romania Graessner Holm Centre for RD Germany Gray Dervela Health Services Executive Ireland Greene Lesley CLIMB United Kingdom Grein Michaela European Huntington's Disease Network Germany Grentoft Mette Rare Disorders Denmark Denmark Grodzicki Tomasz Polish of Foundation Matio Poland Grossmann Frank Foundation Orphanbiotec Switzerland Grueters-Kieslich Annette Charité Center for Women and Child Health and Human Genetics Germany Guida Claudio Carmine Interregional Reference Center for the prevention, surveillance, Italy diagnosis and treatment of porphyriaGunn Angus UCB Pharma SA Belgium Gunnarsson Rolf Karolinska Institute Sweden Gusseck Helma Pro-Retina Germany Gusseck Leonie Pro-Retina Germany Germany Gustavsson Birgitta Göteborgs Universitet Sweden Haffner Marlene Haffner Associates, LLC United States Halbach Alexandra Federal Ministry of Health Germany Hale Sarah Robert Bosch Stiftung Germany Hall Anthony FindaCure United Kingdom Halvorsen Kersti Norwegian Directorate of Helth Norway Hamilton Alison NHS Grampian United Kingdom

20134309D03-00OTHGBIS_List of participants

5

Last Name First Name Company Country

Handzova Lydia CMTC-OVM Netherlands Hanisch Marcel University of Witten Germany Harmon Mary NPS Pharmaceuticals, Inc. United States Harms Günter Shire Deutschland GmbH Germany Hartmann Andreas Greenovation Biotech GmbH Germany Hartz Tobias Universitätsmedizin Mainz Germany Heathfield Adam Pfizer United Kingdom Hedley Victoria Eucerd Ja, Institute of Genetich Medicine United Kingdom Heikkinen Risto Finnish Central Organisation for Skin Patients Finland Hein Barbara Germany Helbert Matthew ViroPharma Ltd United Kingdom Helm Anja EURORDIS France Hensen Juergen ICA-Deutschland e.V Germany Heon-Klin Veronique The Federal Ministry of Health Germany Heuing Katharina Namse Geschäftsstelle Germany Heynisch Thomas European Commission Belgium Hilgers Ralf-Dieter Departement of Medical Statistics, RWTH Aachen University Germany Hitziger Maria dragonPharm GmbH Switzerland Hivert Virginie Inserm VS14 / Orphanet France Hiwot Tarekegn University Hospital of Birmingham United Kingdom Hoedebeck-Stuntebeck Norbert Germany Hofmann Michael Centogene GermanyHoffmann Hans Jürgen Shire Deutschland GmbH Germany Hoffmann Stéphanie GH Partners Belgium Högvik Lisbeth Göterborgs Universitet Sweden Höhn Sophie IRDiRC France Hollak Carla Academic Medical Center Netherlands Holm Birthe Rare Disorders Denmark Denmark Holzer Ulrike Selbsthilfegruppe Austria Houyez Francois EURORDIS France Hove Hanne Dept. Clinical Genetics 4062, Copenhagen University Hospital At Rigshospitalet Denmark Hsu Tsu-An National Health Research Institutes Taiwan Hughes-Wilson Wills Swedish Orphan Biovitrum AB (sobi) Sweden Hugon Anne French Glycogen Storage Disease (AFG) France Hugon Anne Association AFG France Humphrey Paul Genzyme Therapeutics Ltd United Kingdom Hurter Patricia Vertex Pharmaceuticals United States Hutchings Adam Dolon Ltd United Kingdom Hyry Hanna University of Cambridge United Kingdom Idili Giuseppina AST Italy Incerti Carlo Genzyme Corporation Italy Inga Jenny ASOCIACION ESPANOLA SINDROME DE SJÖGREN Spain Innes A. Micheil Orphanet Canada Canada Irmler Marianne Carl von Ossietzky University Oldenburg Germany Irwin John Viropharma Europe United Kingdom Iskrov Georgi Institute of Rare Diseases Bulgaria (ICRDOD) Bulgaria Isla Julian Dravet Syndrome Foundation Europe Spain Itajar Debbarh InterMune Switzerland Jackman Dennis CSL Behring LLC United States Jaeger Gunilla Agrenska Sweden Jageneau Ingrid RADIORG Belgium Jalbert Raphaëlle Université de Montréal Canada Janzen Rudolf W.C. EU MGA Germany Jensen Lene Rare Disorders Denmark Denmark Jespersen Marianne Danish Health and Medicines Authority Denmark Jessop Edmund National Health Service United Kingdom Johannesson Sigurdur AHC Federation of Europe Iceland Johansen Heidi TRS Resurce Center for rare disorders, Sunnaas Rehabilitation Hospital Norway Johnson Matt Matrixpolicy United Kingdom Joker Nielsen Stephanie Rare Disorders Denmark Denmark Joldic Marija Nacionalna Organizacija Serbia Jones Wendy Cambridge University United Kingdom Jouanjan Gaelle Geniris France Jovanovic Jadranka Institute for children and youth health care of Vojvodina Serbia Joyce Hilary MaxAppeal United Kingdom Juillet Yves Industrie Sante France Julkowska Daria French Foundation for rare diseases France Kaariainen Helena National Institute for Health and Welfare Finland Kaatee Marleen VSOP Netherlands Kaczmarek Radoslaw European Haemophilia Consortium Poland Kaivos Sami The Finnish Heart Association Finland Kallweit Ulf Neurocenter Rhine-Lahn Germany Kameric Neira Confederation of Childhood Cancer Parent Organization Bosnia And Herzegovina Kanavin Øivind Frambu Resource Centre for Rare Disorders Norway Karg Saskia Kinderspital Zürich Switzerland Karimova Svetlana National Association of organization of Patients with Rare Diseases Russian Federation Karsenberg Kim VSOP Netherlands Kavecan Ivane Institute for children and youth health care of Vojvodina Serbia Kemppi Anssi Finnish Association of people with Physical Disabilities Finland

20134309D03-00OTHGBIS_List of participants

6

Last Name First Name Company Country

Kennan Avril DEBRA Ireland Ireland Kentikelenis Alexander University of Cambridge United Kingdom Kepli Krisztina Hungarian Haemophilia Society Hungary Khvostikova Elena Independent non-profit organization, Central of Patient Care (Genam) Russian Federation Kim Yvonne Raptor Pharmaceuticals United States Kivinen Mitro Finnish Association of People with Physical Disabilities Finland Kladar Anja Croation Society For Rare Diseases Croatia (Hrvatska) Kleefstra Tjitske Radboud University Nijmegen Medical Centre Netherlands Klucken Angelika Hoffnungsbaum e.V. Germany Knefel Magdalena Polish National Alliance ORPHAN Poland Koehl Susanne DEBRA Germany Germany Koenig Kirsten University Medical Center Freiburg Germany Koenig Monika Kinder Augenkrebs Stiftung Germany Kohler Tamara DIA Europe Switzerland Kolarova Teodora APOZ and Friends Association of Cancer Patients Bulgaria Kole Anna EURORDIS France Kolvik Lena University of Gothenburg Sweden Korenkov Oleksandr NGO Ukrainian Union of Patients Organizations (UUPO) Ukraine Kornak Uwe Charité-Universitätsmedizin Berlin Germany Korsunskaya Yulia Another Life Russian Federation Korycinska Dorota Polish National Alliance ORPHAN Poland Kosenko Alexander Union of Patients and Patients Organizations of Rare Diseases Russian FederationKoskenvuo Juha Blueprint Genetics Finland Krafft Thomas Charité University Medicine Berlin Germany Kristensen Jette Addison Foreningen Denmark Krohn Leena The Finnish Federation of the Hard of Hearing Finland Krol Sawicka Ewa Polish National Alliance ORPHAN Poland Krulko Inna NGO Ukrainian Union of Patients Organizations (UUPO) Ukraine Kvlividze Oleg Georgian Foundation for Genetic and Rare Diseases Georgia Labun Svetlana Regens Wagner Absberg Germany Ladurner Joy Gesundheit Österreich GmbH Austria Lambrou Marianna Greek Alliance For Rare Diseases Greece Lapadula Velia Associazione Sclerosi Tuberosa Italy Lapointe Anne-Sophie Vraincre Les Maladies Lysosomales France Lasko Paul International Rare Diseases Research Consortium Canada Laugel Thierry KLS Partners, Kurma bioFund France Lauridsen Anne-Grethe European Gaucher Alliance United Kingdom Lavery Christine MPS Society United Kingdom Lavin Carmen Myasthenia Gravis Association UK United Kingdom Lawlor Anne GRDO Ireland Le Cam Yann EURORDIS France Le Dez Lugdivine Celgene Management Switzerland Lecomte-Brisset Emmanuelle Shire Switzerland Lehmann Birka BfArM Germany Lehnert Lasse AstraZeneca Germany Lelievre France Medunik Canada Canada Lemli Annette SoMA (Patient Organisation for People with Anorectal Malformations) Germany Lewi Daniel The Cure & Action for Tay-Sachs (CATS) Foundation United Kingdom Lewis Debra FDA United States Lewis Janine Genetic and Rare Diseases Information Center United States Leyten Claire Prosensa Netherlands Lhoir Andre Ministry of Public Health Belgium Libura Maria Polish National Alliance ORPHAN Poland Lilja Charlotte Sällsynta Diagnoser Sweden Lind Lene NP-Denmark Denmark Linertová Renata Fundación Canaria de Investigación y Salud Spain Lipucci Michele AVLT/EURORDIS Italy Lis Danuta Polish National Alliance ORPHAN Poland Liverani Maria Elena A.B.C. Associazione Bambini Cri du Chat Italy Livesey Nigel Comradis United Kingdom Llinares Jordi European Medicines Agency, European Union United Kingdom Lochmuller Hans Newcastle University United Kingdom Long Shinong Biomarin Pharmaceutical Inc. United States Lopez Estrella Rare Diseases Research Institute Spain Lopez de Heredia Miguel Idibell Spain Lumgair Holly Idis United Kingdom Lykke Dorthe Foreningen For Ataksi/Hsp Denmark Lyngvig Jytte DIA Europe Switzerland Macchia Flaminia EURORDIS France Macek Milan University Hospital Motol and 2nd School of Medicine Czech Republic Mackowiak Malgorzata Polish National Alliance ORPHAN Poland Mackowiak Stanislaw Polish National Alliance Orphan Poland MacLennan Peter ORION Clinical Services United Kingdom Maeser Stefan Centogene Germany Maiella Sylvie Orphanet/INSERM France Maier William Mapi FranceMaillard Adelaide Association Alliance Syndrome de Dravel France Germany Maillard Sidoine Association Alliance Syndrome de Dravel France Germany Makaeva Albina National Association of Organisations Russian Federation

20134309D03-00OTHGBIS_List of participants

7

Last Name First Name Company Country

Makow Evanina DEBRA Espana Spain Malarowska Elzbieta Polish National Forum for Rare Diseases therapy Orphan Poland Manea Silvia Veneto Region Coordinating Central Italy Manfrin Giulia ARCOIRIS ONLUS Italy Manto Mons. Andrea Center for Health Pastoral Care, Diocesis of Rome Italy Manu Pereira Maria del Mar Enerca - Hospital Clinic Spain Manuel Jeremy Gauchers Association United Kingdom Margreiter Fionnuala European Huntington's Disease Network Austria Mariani Giulia AST Italy Marincas Ligia National Alliance for Rare Diseases Romania Romania Mariz Segundo European Medicines Agency United Kingdom Marques Raquel Team Sanfilippo Portugal Masefield Sarah European Lung Foundation (ELF) United Kingdom Matthijs Gert Laboratory for Molecular Diagnosis, Center for Human Genetics Belgium Mavris Maria EURORDIS France Mayer-Nicolai Christine Merck KgaA Germany Mazzucato Monica Rare Diseases Coordinating Centre Italy Italy McCormack Pauline Newcastle University United Kingdom McGahan Maureen DIA Europe Switzerland McLauchlan Alistair Chromosome 18 Registry & Research Soc Europe United Kingdom Medgyaszai Melinda Hungarian Haemophilla Society Hungary Meehan Maria Fighting Blindness Ireland Melin Susanne Robert Bosch Stiftung GmbH Germany Mellor-Heineke Sabine Hannover Medical School Germany Mende Sabrina Centre for Rare Diseases Germany Menzel Olivier BLACKSWAN Foundation Switzerland Mertz Eric Quintiles United States Meutgeert Hanka Vereniging voor Kinderen met Stofwisselingsziekten VKS Netherlands Meyer Francois HAS Haute Autorite De Sante France Miasnikova Irina NGO Russian patients union Russian Federation Miath Viginie Conectus France Michalik Joanna Polish National Alliance ORPHAN Poland Michalik Roman Polish National Alliance ORPHAN Poland Mikami Koichi University of Edinburgh United Kingdom Miletic Lajko Dragana Serbian Morquio Association Serbia Minelli Flavio Unone Italiana Ittiosi Italy Mingarelli Rita Orphanet Italy Mingorance Ana Dravet Syndrome Foundation Spain Mitina Snezhanna RICOoDB “Union of patient and patient’s organization with rare diseases” Russian Federation Mizushima Hiroshi National Institute of Public Health Japan Mohr Lisen Frambu Resource Centre for Rare Disorders Norway Moldestad Olve Oslo University Hospital Norway Moldrup Ane Rare Disorders Denmark Denmark Monaco Lucia Telethon Italia Italy Montserrat Antoni European Commission Luxembourg Morcillo Makow Evanina DEBRA Spain Spain Morel Thomas KU Leuven Belgium Morin Isabelle Shire Human Genetic Therapies, Inc. Switzerland Morina Shaqiri Naime AKPM- Kosova Medicines Agency Kosovo Mork Ann-Christin UCB Pharma SA Belgium Muendner-Hensen Barbara ICA Germany Muenster Tino Anästhesiologische Klinik - Universitätsklinikum Erlangen Germany Muir Allan Association for Glycogen Storage Disease (UK) United Kingdom Müller-Grosse Antoinette Interessengemeinschaft Epidermolysis Bullosa Germany Mummery Christine Leiden University Medical Center Netherlands Murphy Anne Hôpitaux Universitaires de Genève Switzerland Musch Greet Federal Public Health Services (FAMHP) Belgium Muscolo Luisa Anna Adele Italian Medicines Agency (AIFA) Italy Muscolo Maria Luisa Italian Medicines Agency (AIFA) Italy Mustonen Pasi-Pekka Ministry of Social Affairs and Heatlh Finland Muthyala Ramaiah Indian Organization for Rare Diseases United States Nachtigaeller Christoph German Alliance for Chronic Rare Diseases (ACHSE) Germany Nagel-Heinen Alie IJzersterk Netherlands Naseer Sheikh Haji Babar Bin Adam Foundation Pakistan Naumann-Winter Frauke Bundesinstitut für Arzneimittel und Medizinprodukte Germany Naydenov Lyubomir Bulgarian Society of Patients with Pulmonary Hypertension Bulgaria Neiditsch Esther ProRaris, Allianz Seltener Krankheiten - Schweiz Switzerland Nelson R GSK United Kingdom Nicholl Ciaran European Commission Belgium Nicod Elena London School of Economics (LSE) United Kingdom Niemi Eila The Finnish MS Society Finland Nijnuis Marianne VSOP Netherlands Nishimura Yukiko JPA / Koinobori / PRIP Japan Nolan Wright Lisa Coté Orphan Consulting United States Nordstrøm Marianne Frambu Resource Centre for Rare Disorders Norway Norstedt Irene European Commission Belgium Nourissier Christel Prader Willi France France Novak Ursula pro rare austria Austria Nunes Virginia Idibell Spain

20134309D03-00OTHGBIS_List of participants

8

Last Name First Name Company Country

Nyongui Elisabeth Institute of Human Genetics, Hanover Medical School (MHH) Germany O'Connor Daniel Medicines and Healthcare products Regulatory Agency United Kingdom O'Higgins Shannon DNA Genotek Canada Okx Yvonne SAS Foudation Primaire Immuundeficienttie Netherlands Olauson Anders European Patients Forum Belgium Olaya Costa Laura Enerca - Hospital Clinic Barcelona Spain Olie Robert Janssen-Cilag AG Switzerland Oliveira Pedro University of Lisbon Portugal Olofsson Gwyneth Göteborgs Univeritet Sweden Olsen Christina Ceratium United Kingdom Oom Marlies European Waldenström's Macroglobulinemia Netherlands Oosterwijk Cor VSOP Netherlands Ørbeck Kjetil Frambu Resource Centre for Rare Disorders Norway O'Reilly Ken Biogen Idec Inc. Switzerland Orfalian Zaven Rome University Italy Osipenko Leeza National Institute for Health and Care Excellence (NICE) United Kingdom Oswiecinski Wojciech Polish National Alliance ORPHAN Poland Ouellette Gail RQMO Canada Oziel David EURODIS France Pailloux Frederic Voisin Consulting Life Sciences Switzerland Palau Francesc CIBERER Spain Palm Willy European Observatory on Health Systems and Policies Belgium Pani Luca Italian Medicines Agency (AIFA) Italy Paoli Flavio Stabilimento Chimico Farmacutico Militare Italy Pape Ulrich-Frank Charité University Medicine Berlin Germany Parker Samantha Orphan Europe France Parkinson Kay Alstrom Syndrome UK United Kingdom Parowicz Marek Polish Society for people affected by AHC Poland Paschall Justin European BioInformatics Institute United Kingdom Paul Felix Janssen-Cliag GmbH Germany Pavlovic Sandra DEBRA Serbia Serbia Pawel Wojtowicz CF Polish Foundation Matio Poland Pearce Fiona National Institute for Health and Care Excellence United Kingdom Peceny Markus Vertex Pharmaceuticals (Germany) GmbH Germany Pedersen Kaare Foreningen for Ataksi Denmark Peixoto Sandra Inserm US14 Orphanet France Penttilä Karri Finnish Medicines Agency, Fimea Finland Perez de Tudela Naca AELIP Spain Perrone Teresa APMAR onlus Italy Pestoff Rebecka Sällsynta diagnoser/NMD Sweden Petrie Dianne ASSOC OF GENETIC SUPPORT OF AUSTRALASIA Australia Petroni Angelo Angeli Noonan Onlus - Italian Non Prof. Org. For the Noonan Syndrome Italy Petrovsky Karl Baxter Healthcare GmbH Austria Pfalz Annette Frankfurt University Hospital Germany Picavet Eline KU Leuven LRD Belgium Pirard Vinciane Genzyme Belgium Plate Ananda Belgium Pleticha Rob EURORDIS France Plume Ieva Rare disease society "caladrius" Latvia Plumeier Almuth Alan Luxembourg Podushkina Ekaterina Russian Federation Pogany Gabor Rare Diseases Hungary Hungary Pogany Krisztina Rare Diseases Hungary Hungary Pohla-Gubo Gabriele Debra International / EB House Austria, SALK Austria Politano Luisa Selona University of Napoles Italy Poortman Ysbrand VSOP (Dutch Patient Alliance) Netherlands Posada Manuel Institute of Rare Diseases Research Spain Prawer Jill United Kingdom Preiss Gaëlle Alexion Pharma International Sàrl Switzerland Pruneda-Gonzalez Laura FICYT Spain Prütz Christin Janssen Pharmaceutica Sweden Ptasinski Maciej Polish National Alliance ORPHAN Poland Quadder Bernd Deutsche Sarkoidose-Vereinigung gemeinnutziger e.V Germany Rademacher Sabine bundesverband Kleinwuchsige Germany Radier Elodie Amgen Limited United Kingdom Radoslav Herda Slovak RD Alliance Slovakia Rae Daniela NHS Grampian United Kingdom Ramljakova Beata DebRA SR Slovakia Randazzo Salvatore XLPDR International Association ONLUS Italy Rath Ana Orphanet-Inserm, Rare Diseases Platform France Razeto Stefania Italian National Institute of Health (ISS) Italy Rebe Thomas MHH Germany Recher Alecs University of Lucerne Switzerland Renault Daniel AIRG-France France Rens Jacqui European Cystic Fibrosis Society Patient Registry Belgium Reviers Evy ALS Liga Belgie Belgium Reynolds George Open App Ireland Richens Caitlin Birmingham Children's Hospital United Kingdom Riess Olaf Horst Uniklinik Tuebingen Germany

20134309D03-00OTHGBIS_List of participants

9

Last Name First Name Company Country

Rigal Loic Institut droit et santé de l'Université Paris Descartes France Rigourd Samuel Novartis Pharma Switzerland Rinaldi Claudia Petrone Italy Risch Tessa FOP Stichting Nederland Netherlands Rissmann Anke Fehlbildungsmonitoring Sachsen-Anhalt Germany Roberts Patricia Save Babies Through Screening Foundation UK United Kingdom Robinson Gregory Shire United States Robinson Peter Professor of Medical Genomics, Charité, Universitätsmedizin Berlin Germany Rodger Sunil Newcastle University United Kingdom Rodwell Charlotte INSERM France Roelofs Sandra Elisabeth Alliance for Rare Diseases of SOCO Charity foundation Georgia Roerig Birgit Coté Orphan Consulting United States Röhl Claas Nothing is Forever - Verein zur Förderung der Neurofibromatoseforschung Austria Röjvik AnnCatrin Agrenska Sweden Roloff Holger Deutsche Narkolepsie-Gesellschaft e.V. - German na Germany Romano Isabella Photographer Italy Rooney Emma National Gaucher Foundation of Canada Canada Rootwelt Terje Oslo University Hospital Norway Rosenberg Daniel Actelion Switzerland Rosendahl Ostergaard John Centre of Rare Diseases, Department of Paediatrics Aarhus University Hospital Denmark Rosow Kyra Pfizer United States Rothera Mark PTC Therapeutics United States Rothman Margaret Janssen United States Rouault Francoise AFM ATelethon France Roy Anna WIV-ISP Belgium Royo Fernando Genzyme Spain Rozzi Elisa regione emilia romagna Italy Ruano Diaz Belen Asociacion Espanola del Sindrome de joubert Spain Ruotolo Roberta Orphanet Italy Russell Anne-Marie Imperial College London United Kingdom Rusu Cristina University of Medicine and Pharmacy Romania Rutherford Alaster NHS Bath & NESomerset United Kingdom Rutherford Peter BaxterHealthcare Switzerland Ryan John European Commission Luxembourg Ryan Peter Fighting Blindness Ireland Ryan Robert Scioderm, Inc. United States Rydlewska Danuta Biogen Idec Inc. Belgium Saari Kati The Finnish Network for Rare Diseases Finland Sahelijo Leonardo Alexion Pharmaceuticals, Inc. United States Salonen-Kajander Riitta Rinnekoti-Säätiö, Norio-centre Netherlands Saltonstall Peter National Organization For Rare Disorders (NORD) United States Salzman Rachel The Stop ALD Foundation United States Sandor Janos University of Debrecen - Department of Public Health Hungary Santoni Bruno PPTA Belgium Santoro Michele National Council of Research Italy Sarda Pierre Départment de Génétique, Hôpital Arnaud de Villeneuve France Sarnacki Sabine Hopital Necker Enfants Malades, APHP and Paris Descartes University France Savini Laura European Haemophilia Consortium Belgium Sax-Lichtblau Theresa Germany Scalise Roberta aisnaf Italy Schaub Michael Reguliance LLC / ASPHALION SL Germany Scheffer Hans Radboud University Netherlands Schenk Erica Fabry Support / Information Group Netherlands Netherlands Schenk Joern Shire Deutschland GmbH Germany Schey Carina Switzerland Schijndel Maayke IJzersterk Netherlands Schlangen Miriam Namse Geschäftsstelle Germany Schmidt Martina Expert Group for Rare Diseases Austria Austria Schmidt Stephan Alpha1 Netzwerk e.V. Austria Schmidt-Kraft Rainald GKV-Spitzenverband Germany Schneider Holm University Hospital Erlangen Germany Schnieders Birgit Federal ministry of Health Germany Scholz Caroline Rare Diseases Centre Germany Schraver Jolien Shire Switzerland Schreck Stefan European Commission Belgium Schulz Lajla Centre for Rare Disorders Norway Schumacher Roxann DIA Europe Switzerland Schuster Ralp DLR Project Management Agency Germany Schuurman Ad National Health Care Institute Netherlands Schwarzer Nicole SOMA e.V. Germany Schyns Tsveta ENRAH Belgium Seigneuret Nathalie Innovative Medicines Initiative (IMI) Belgium Sen Mithu Self Italy Senecat Juliette EURORDIS France Sepodes Bruno European Medicines Agency United Kingdom Settesoldi Daniela Italian Medicines Agency Italy Shamanovskaya Julia Charitable Foundation "Ostrova" Russian Federation Shcheglova Oxana Alexion Pharma LLC Russian Federation Siderius Liesbeth SSSSH Netherlands

20134309D03-00OTHGBIS_List of participants

10

Last Name First Name Company Country

Siklova Anita Rare disease society "Caladrius" Latvia Sireau Nicolas AKU Society United Kingdom Siviero Paolo Italian Medicines Agency (AIFA) Italy Skarberg Rebecca Norwegian Resource Services on Rare Disorders Norway Skoczylas Michal Pomeranian Medical University Poland Smedley Damian Wellcome Trust Sanger Institute United Kingdom Snijder Irene FOP Stichting Nederland Netherlands Sobieszczuk Przemyslaw Debra Polska Kruchy Dotyk Poland Sødal Susan Centre for rare disorders, Rikshospitalet, Oslo University Hospital Norway Sofia Francesca aisnaf Italy Sokolov Alexey SPBMAPS Russian Federation Solis Leire International Patient Organisation for Primary Immunodefciencies (IPOPI) United Kingdom Somanadhan Suja Temple Street Children's University Ireland Soyer Hubert Regens Wagner Absberg Germany Spunton Marianna A.B.C. Associazione Bambini Cri du Chat Italy Stampfer Miriam Universität Heidelberg--Institute For Human Genetics Germany Steen-Bongers Claudia Gesellschaft für Mucopolysaccharidose e.V. Germany Steffes Gerhard European Commission Luxembourg Steinhauslin Florence Vertex Pharmaceuticals Switzerland Steinmueller Christiane PT-DLR Health Research Germany Stiba Konstanze Centogene Germany Stokke Bodil Norwegian Directorate of Health Norway Storf Holger Institute of Medical Biostatistics, Epidemiology and Informatics, Unimed. Germany Stott Caroline Barretstown Ireland Strom Alessandra Centre Hospitalier Universitaire Vaudois Switzerland Sulicka-Grodzicka Joanna Jagiellonian Iniversity Poland Svaton Vratislav Rett Community Czech Republic Swinnen Elfriede Scientific Institute of Public Health Belgium Sydow Sabine vfa e.v.- Research-Based Pharmaceutical Companies Germany Sykut Cegielska Jolanta Polish National Alliance ORPHAN Poland Synodinos Dimitrios Pepsa - Greek Alliance for rare disease Greece Szili Danijela Rett Syndrome Europe and Rirosz-Hungarian Rare Disease Hungary Szydlowski Jerzy Polish National Alliance ORPHAN Poland Tambuyzer Erik BioPontis Alliance Foundation Belgium Taranto Anna Italian National Institute of Healt (ISS) Italy Taruscio Domenica National Center for Rare Diseases Italy Tatarnikova Anastasiia Another Life Russian Federation Taylor Elizabeth Idis Ltd United Kingdom Taylor Louise EURORDIS France Tejedor del Real Purificacion European Parliament Belgium Teneishvili Mamuka ViroPharma Europe United Kingdom Terekhova Marina Russian Federation Terol Enrique Healthcare Systems Unit D2, DG SANCO; Health and Consumers, European Commission Belgium Tessier Ludovic EURORDIS France Thompson Bruce Reguliance LLC United States Thompson Kristin University of Ulm Germany Timmermans Katrien SGS Life Science Services Belgium Timmis Oliver Alkaptonuria Society (AKU) United Kingdom Toivanen Leena Rinnekoti Foundation, Norio-Centre Finland Tomov Vladimir National Alliance of People With Rare Diseases Bulgaria Tontsch Adriana Association for Spina Bifida/Hydrocephalus in Romania Germany Townhill Jenny European Huntington's disease Research Network United Kingdom Treacy Eileen NCIMD Ireland Troy Alice Novo Nordisk A/S Denmark Trzeszczynska Katarzyna Debra Polska Kruchy Dotyk Poland Tsigkos Stylianos European Medicines Agency United Kingdom Turmes Gaby ALAN asbl Luxembourg Tuxen Nina Association for Wilsons Disease Denmark Ueckert Frank University of Mainz Germany Uguz Aynur MPS Turkish Patient's Organization Turkey Unterberger Ursula Gesundheit Oesterreich GmbH Austria Urbina Paz Institute of Public Health Belgium Vadlamudi Sree e Therapeutics United Kingdom Vamvakas Spiros European Medicines Agency United Kingdom Van Agthoven Michel Janssen-Cilag B.V. Netherlands Van De Velde Helgi Janssen Research & Development Belgium van den Brink Rinke Dutch Television Netherlands Van Der Heijden Lex CMTC-OVM Netherlands Van Kranen Henk IPHG, Maastricht University Netherlands van Ommen Gert Jan Leiden University Medical Center Netherlands Van Walsem Regina University of Oslo Norway van Weely Sonja ZonMw Netherlands Varga Gabor Hungarian Haemophilia Society Hungary Varga Orsolya Department of Preventive Medicine, Faculty of Public Health, Univ. Debrecen Hungary Vasseur Jean-Loup AIDNAI ASSOCIATION France Vataja Paivi The Finnish Federation of the Hard of Hearing Finland Vaupel Nora Bundesverband Kleinwuchsige Germany Vavassori Maria A.I.S.E.A Onlus Italy Verhoeven Peter Vasculitis Stichting Netherlands

20134309D03-00OTHGBIS_List of participants

11

Last Name First Name Company Country

Verstegen-Ruijs Jose Sas Foudation Primaire Immuundeficienttie Netherlands Verwee Bertrand InterMune Switzerland Viapiana Ombretta A.O.U.I.Verona Italy Villaverde Hueso Ana Rare Disease Research Institute Spain Visona Dalla Pozza Laura Veneto Region Coordinating Center Italy Vitali Diana soditalia Italy Vittozzi Luciano National Centre Rare Diseases, National Health Institute Italy Vlassembrouck Jean-Marie ESMO Belgium Voigtlander Till University of Vienna Austria Vola Beatrice GFB Onlus Italy Volta Matteo Regione Emilia-Romagna Italy Von Gizycki Phil Rainald Retina Europe Germany Vroom Elizabeth Duchenne Parent Project Netherlands Wadenheim Ingrid Riksförbundet Sällsynta diagnoser Sweden Wagner Heidi Alexion Pharmaceuticals United States Wagner Leona Deutschprachige Selbsthilfegruppe für Alkaptonurie e.V. (DSAKU) Germany Wagner Thomas Hospital of the Johann Wolfgang Goethe University Germany Walach Oz Neopharm Israel Waligora Jaroslaw European Commission Luxembourg Wallentin Ute Germany Wang Beate Nordic Council Denmark Watkins Hannah QED Clinical Services Limited and orphan reach United Kingdom Weber Stefanie German Institute of medical Documentation and Information (DIMDI) Germany Wehr Geske Selbsthilfe Icthtyose e.v. Germany Weinbach Jerome INSERM U933 RaDiCo Program France Weinman Ariane EURORDIS France Weinreich Stephanie EMGO, VU University Medical Center Netherlands Wekre Lena Norwegian Resource Services for Rare Disorders Norway Wells Dominic The Royal Veterinary College United Kingdom Wenzel Dieter MPN-Netzwerk e.V. Germany Wessel Theda Charite - Campus Virchow-Klinikum Germany West Andrea Batten Disease Family Association United Kingdom West Richard Bechet's Syndrome Society United Kingdom Westergren Susanne Lj Göteborgs Universitet Sweden Westerheim Ingunn NFOI Norway Westermark Kerstin Medical Products Agency Sweden Widenmann-Grolig Anke Keks E.V. Germany Widmann-Mauz Annette Federal Ministry of Health Germany Wiehe Lenja EURORDIS France Wiesboeck Lydia Research for Rare Germany Wiik Siv Robert Göteborgs Universitet Sweden Wilke Alexander CSL Behring GmbH Germany Wilkinson John MHRA United Kingdom Wille Micheline Shire International GmbH Switzerland Willemse Jose Stichting AA & PNH Contacgroep Netherlands Wingstedt de Flon Veronica Agrenska / Nationella Funktionen Sällsynta Diagnoser Sweden Winther Ole University of Denmark Denmark Wojcicka-Bartlomiejczyk Barbara Iwona Nutricia Netherlands Wong-Rieger Durhane Canadian Organization For Rare Disorders (CORD) Canada Wood Libby Newcastle University United Kingdom Wood Patricia NBIA Disorders Association United States Wubbe John Peter Mary ICP and WFIP Netherlands Yeh Danny Biogen Idec Inc. United States Zakharova Ekaterina NGD "Russian association of rare diseases" Russian Federation Zakosek Polona Debra Slovenia Slovenia Zeidler Cornelia Medical School Hannover Germany Zielinski Miroslaw Polish National Alliance ORPHAN Poland Zimmermann Holger Bayer Pharma AG Germany Zoeller André Alexion Services Europe Sprl Belgium Zulnoon Ayman Intas Pharmaceutical Company Egypt

20134309D03-00OTHGBIS_List of participants