Invited Bloggers
Avril has worked for the Irish charity Fighting Blindness since June 2000. As Head of Public Affairs, she is responsible for raising awareness of retinal degenerative diseases among the general public, health care professionals and policy makers. She also works on the promotion and development of the charity’s significant research portfolio. Avril is also an active member of GRDO – The Genetic and Rare Disorders Organisation, which is the Irish national alliance supporting families affected by genetic and rare disorders. She was elected chair in 2008 and is also a member of both The Medical Research Charities Group (MRCG) and The Irish Platform for Patient Organisations Science and Industry (IPPOSI) who are working closely with GRDO to campaign for the establishment of a National Plan for Rare Diseases in Ireland. Avril was diagnosed with Retinitis Pigmentosa in 1998 and is registered as Vision Impaired.
Birthe Holm has been involved in rare diseases since her son Michael was diagnosed with Osteogenesis Imperfecta (OI) in 1983. After having been actively involved in the Danish OI Association, she founded the Danish national alliance for rare diseases, of which she is currently Vice President. She is also the Chair of the Board of the Danish Centre for Rare Diseases and Handicaps, and is an active member of the European OI Federation. Birthe was first nominated based on her extensive experience working for patient groups in collaboration with health regulators and professionals. After six years serving at the COMP, she has a deep understanding of regulatory affairs, clinical development and research stimulation, as well as widespread contacts with patients from a broad range of rare diseases. She also brings to the position a degree in law, and a professional background is public service. She is fluent in English and has been promoting the Orphan Drug Regulation at conferences and workshops all over Europe.
Christel is the mother of a 33-year-old daughter born with a rare disease which was finally diagnosed when her daughter was 16 years old. Since then, Christel has been fighting relentlessly for better diagnosis and access to care for people living with rare diseases across Europe. She was one of the founders of Prader-Willi France and of the French National Alliance for Rare Diseases. She was elected director of EURORDIS in 2000 and is currently its General Secretary.
On behalf of EURORDIS, she was instrumental in developing the first National Plan for Rare Diseases in France (2005-2008), the Communication of the European Commission “Rare Diseases, Europe’s Challenge” (2008) and the Recommendations of the Council for Rare Diseases (2009). Today she represents EURORDIS at the Rare Diseases Task Force of the European Commission. She is an advisor in the EUROPLAN project.
François Houÿez has worked both as volunteer and as employee for a variety of organisations fighting AIDS at national and international levels. A special emphasis of his work has been patients’ rights advocacy. His background includes medical studies and training in medical computer science and epidemiology. He joined the Eurordis team in June 2003, and is involved in the Access to Care project, the Orphan Drugs Survey and other projects.
Jan Geissler is the Director of the European Cancer Patient Coalition (ECPC), representing more than 300 cancer patient groups across Europe. He is a co-founder of the organisation which started in 2003. Since his diagnosis of a rare cancer (Chronic Myeloid Leukemia) in 2001, he has been running his online community and blog http://www.leukaemie-online.de which is one of the most frequented patient websites on leukemia in the German speaking Internet today. in 2007, Jan has co-founded the CML Advocates Network (http://www.cmladvocates.net) which is connecting 40 CML patient groups across the globe today. Before he became a full time advocate in 2008, he held various managerial positions in the telecommunications and media industry.
Shortly after the diagnosis of her daughter with Mucopolysaccharidosis type III, otherwise known as Sanfilippo Syndrome, Karen founded the Alliance Sanfilippo. This organisation
funds research and preclinical development and also brings together people who have a common interest in finding solutions to cure patients. Karen plays a leading role in its activities as the organisation’s chairperson. She has also participated in the Drug Information Association’s (DIA) EuroMeeting and in 2007 was nominated as a Patient Representative representing EURORDIS at the Paediatric Committee of the EMEA.
Lesley Greene has been appointed as a new member of the COMP. As the mother of a patient affected by the rare metabolic diseases cystinosis, she contributes her personal experience with clinical trials and a solid knowledge of the drug development process. As a result of her interest in orphan drugs and active exchanges with US based patient groups, Lesley was instrumental in starting discussions about orphan drug legislation in Europe. She strongly advocated for the adoption of the Orphan Drug Regulation in Europe in 1999, and subsequently served as President of EURORDIS from 2001 to 2003. She is also the founder and currently Vice-President of the UK charity CLIMB (Children living with Metabolic Inherited Diseases), which she created to improve the lives of those affected by metabolic diseases and to raise awareness of their impact.
Peter is NORD’s President and Chief Executive Officer. He has over 30 years of healthcare experience in both for-profit and not-for-profit environments, as well as extensive federal and commercial market knowledge. Peter has held senior positions within a number of major academic medical centers and organizations, including Harvard’s Brigham and Women’s Hospital, Tufts-New England Medical Center and St. Elizabeth’s Medical Center of Boston.
Ségolène Aymé is a medical geneticist, Director of research at the French Institute of Health and Medical Research (INSERM). She is the executive manager of the INSERM department dedicated to information on rare diseases in Paris. This service, called Orphanet (www.orpha.net), was established in 1997 as the European database of rare diseases and orphan drugs and is currently funded by the French Ministry of Health, the INSERM and the European commission (DG Public Health and DG Research). Since 2004, she has served as the leader of the Rare Diseases Task Force established by the European Commission, DG Public Health and Consumer Protection. She is also the Liaison officer of the European Society of Human Genetics for International affairs, the editor-in-chief of the Orphanet Journal of Rare Diseases (www.ojrd.com) and the chair of the WHO Topical Advisory Group for Rare Diseases.
Steve is the Director of the Office of Rare Diseases (ORD) at the National Institutes of Health (NIH). His major focus is on stimulating research with rare diseases and developing information about rare diseases and conditions. To help identify research opportunities and establish research priorities, the Office has co-sponsored over 1000 rare diseases-related scientific conferences with the NIH research Institutes and Centers. Current activities include developing genetic tests for rare diseases, developing an educational module on rare diseases for school children, establishing a public information center on genetic and rare diseases, maintaining the Rare Diseases Clinical Research Network, and providing a special emphasis clinic with senior clinical staff for patients with undiagnosed diseases at NIH’s Clinical Research Center Hospital. Steve received the B.S. degree in Pharmacy in 1968 and the Doctor of Pharmacy degree from Duquesne in 1979.
Terkel Andersen was born in 1957 in Copenhagen, Denmark. A person with haemophilia himself, he has been president of the Danish Haemophilia Society since 1985.Terkel has broad experience in disability and health issues. He was one of the founders of the Danish Alliance of Rare Disorders in 1986 and worked as the first Executive Director of the Centre for Rare Diseases and Disabilities of the Ministry of Social Affairs in Denmark from 1990 to 2001.Terkel Andersen has been member of the Eurordis Board of Directors since the start of the organisation in 1997 and president since 2003. Professionally Terkel Andersen is working as head of office of a standing committee on volunteer effort under the ministry of social affairs in Denmark.
Dr. Timothy Coté has served as the Director of FDA’s Office of Orphan Product Development since September, 2007. He received a bachelor’s degree from Syracuse University, a Medical Doctorate from the Howard University College of Medicine, and a Masters in Public Health from Harvard School of Public Health. He has completed residencies and is Board certified in both Preventive Medicine and Anatomic Pathology. Dr. Cote began Federal service in 1989 with the CDC’s Epidemiology Investigation Service (EIS) and has since continued as an officer in the US Public Health Service Commissioned Corps assigned to wide variety of positions at CDC, NIH, USDA and FDA. Most recently he served as CDC Chief of Mission in Kigali, Rwanda where he implemented the Presidents Emergency Plan for AIDS Relief. He has authored or co-authored over 60 publications on infectious and neoplastic disease.
Yann Le Cam is a patients’ association advocate who has dedicated 20 years of professional and personal commitment to health and medical research nongovernmental organisations in France, Europe and the United States in the fields of cancer, HIV/AIDS and rare diseases.
He is one of three patient representatives appointed to the Committee for Orphan Medicinal Products (COMP) at the European Drug Agency (EMEA) and served as its Vice Chairman from 2000 to 2006. He is a member of the DG Sanco Task Force on Rare Diseases and other European Commission working groups.
He has three daughters, the eldest of whom has cystic fibrosis.
