Eurordis - Rare Disease Europe

Dr Antonyia Parvanova, Member of the European Parliament since 2009, has shown an outstanding commitment to rare diseases in her overarching objectives to improve Public Health across the European Union’s Member States.

Dr Parvanova has since 2007 advocated for a ‘Europe for Patients’ emphasising the importance of improving access to medicinal products, and the benefits of cross border healthcare.

Dr Parvanova has publically voiced the importance of equality in access to health services, to provide affordable, high quality and safe medical care for all European citizens.

Such relentless advocacy activity has allowed this topic to rise in the European political agenda leading to the adoption of the Directive on the application of Patient’s Rights in Cross-border Healthcare. As Rapporteur of the EU Directive on Medicinal Products for Human Use: transparency of measures regulating the prices, Dr Parvanova has shown substantial commitment to improving rare disease patients’ lives.

Dr Parvanova studied Medicine and Health Management in Varna, Public Health at Maastricht (the Netherlands) and health policy in England. She worked as a paediatrician, expert and researcher in the field of healthcare management in the United Kingdom before launching her political career as an elected member of the Bulgarian Parliament in 2001 and then again in 2005.

Alongside her persistent commitment to healthcare within the European Union, Dr Parvanova also strongly advocates for women’s rights and gender equality, and to remove visa regulations imposed by the US and Canada upon Eastern European Countries.

EURORDIS has benefited from the support of Dr Parvanova, who has participated as a speaker at several EURORDIS events. This award recognises her unique dedication in addressing the needs of people living with rare diseases as a Member of the European Parliament, and in her support of crucial amendments in several EU pieces of legislation that have a positive impact on the rare disease community at large.

For over 30 years, Dr Marlene Haffner has had an immeasurable impact upon the development of orphan drug therapies. She has dedicated most of her professional life to facilitating the development of therapies for the diagnosis, treatment and prevention of rare diseases.

Dr Haffner worked as the Director of the Office of Orphan Products Development at the United States of America Food and Drug Administration (FDA) for over twenty years. In this role she was responsible for the administration of the US Orphan Drug Act, the first act of this type in the world. Her influence in this role impacted far beyond the USA, as she applied her valuable knowledge and experience to assist the development of similar orphan drug programmes in Japan, Australia, and the EU, amongst other countries and regions.

Dr Haffner’s role in the FDA placed her in a unique position, bridging the gap between patient support groups and regulated industry with the common objective to develop successful orphan products. Her success can easily be put into numbers: during her time at the FDA, over 300 products were brought to the market. These 300 medicines gave around 15 million people living with rare diseases in the USA alone access to treatment.

After stepping down from the FDA, Dr Haffner spent two years as Executive Director of Global Regulatory Intelligence and Policy within Amgen, the largest biotech company in the world. She then founded Haffner Associates, of which she is now President. In this role, Dr Haffner applies her unmatched knowledge of the rare disease political landscape to consult and work together with patient advocacy groups and pharmaceutical and biotech companies of all sizes.

Dr Haffner graduated from George Washington School of Medicine and completed further training at the Columbia University School of Medicine and the Albert Einstein College of Medicine, New York City, before undertaking a Master’s degree in Public Health from the Johns Hopkins Bloomberg School of Public Health in Baltimore. She trained as an internist and haematologist, and spent five years as Director of the Office of Health Affairs at the center of Devices and Radiological Health. Due to Dr Haffner’s admirable dedication within the field of Public Health, she rose to the rank of Rear Admiral in the United States Public Health Service (USPHS).

The EURORDIS Lifetime Achievement Award is being awarded to Dr Marlene Haffner in recognition of her strong, lifetime dedication and commitment to addressing the needs of people with rare diseases. Without such tenacity and ingenuity, many of the orphan drug programmes around the world would not exist today

Lise Murphy is a true soldier of the rare disease movement in Europe. As an individual affected by the rare disease Marfan syndrome, she has had the experience this inherited disease across three generations, with her father and son also affected. Lise Murphy has used her experience and patient expertise generously for the benefit of all the rare disease community.

In 2003, Lise Murphy was invited to be a member of the Board of Directors of the Swedish Marfan Organisation, (Svenska Marfanföreningen), and in 2004 became its Chairperson. Reaching beyond her own disease community, Lise Murphy has helped to catalyse the rare disease movement as a whole in Sweden, and for two years (between 2004 and 2006) she served on the board of the Swedish Rare Disease Alliance.

EURORDIS would like to thank Lise Murphy for her tireless dedication as a volunteer, with her active involvement and continued commitment to the Therapeutic Action Group (TAG) and as co-chair of the Drug Information Transparency and Access (DITA) Taskforce.

Notably, from 2007 Lise Murphy represented EURORDIS at the European Medicines Agency’s Patient and Consumer’s Working Party (EMAPCWP), and between 2010 and 2013 Lise Murphy held the responsibility of being co-chair of this working party. Achievements within this position have included presenting the EMA model of working with patients before the Heads of Medical Agencies and at the EFPIA Think Tank in Brussels.

Lise Murphy has been instrumental in closing the gap between patients, health care professionals and pharmaceutical agencies, demonstrating the importance of patient dialogue and her unique brand of enthusiasm, energy and Swedish directness has added a special touch to all that she has done. Her relentless dedication to EURORDIS and the rare disease community as a whole makes her a truly deserving recipient of the EURORDIS Volunteer Award 2014.

Andrew Jack has been a journalist for the Financial Times since 1990. Since 2004, he has specialised in health and pharmaceuticals, based in London. He was the Financial Times’ Moscow correspondent and then bureau chief from 1998 to 2004, and previously served as Paris correspondent, financial correspondent, general reporter and corporate reporter. He was one of a group of journalists to be awarded the “1993 British Press Awards Reporting Team of the Year” accolade for coverage of the Robert Maxwell affair.

He is author, most recently, of Inside Putin’s Russia and The French Exception. Mr Jack has written articles for medical journals including the British Medical Journal and the Lancet. He has written specialist reports on the French insurance industry, audit committees, networking and work shadowing; as well as chapters in books on Russia, ethics, and financial reporting.

A geography graduate from St Catharine’s College, Cambridge, Mr Jack was the Joseph Hodges Choate Memorial Fellow at Harvard University, Cambridge, Massachusetts; a New York City Government Urban Fellow; and a trustee of Pushkin House, a London-based centre for Russian culture.

Mr Jack is being awarded the EURORDIS Media Award in recognition of his contribution to better the understanding of rare diseases and the issues surrounding these diseases through his articles written in the Financial Times during the past several years.

Dr Ségolène Aymé is a medical geneticist and Emeritus Research Director at the French National Institute of Health and Medical Research (INSERM). She developed Orphanet, the world’s leading reference portal for expert validated rare disease and orphan drug information.

Orphanet, funded by the INSERM, the French Ministry of Health, the AFM Téléthon and the European Commission (DG Public Health and DG Research), is considered the most comprehensive, reliable, up-todate resource available for rare disease and orphan drug information. Available in six languages and with partners in 38 countries, Orphanet provides open-access data for 6,000 rare diseases – including clinical descriptions, related genes, research projects, patient organisations, medicinal products under development or approved, laboratory diagnostic services, centres of expertise, emergency guidelines, and more. Orphanet is an exemplary international collaboration.

Dr Ségolène Aymé also serves as Chair of the European Committee of Experts on Rare Diseases (EUCERD), heads the Scientific Secretariat of the International Rare Disease Research Consortium (IRDiRC), is Chair of the Topical Advisory Group for Rare Diseases, is responsible for revising the International Classification of Diseases at the World Health Organisation, and is Editor-in-Chief of the Orphanet Journal of Rare Diseases (www.ojrd.com).

Dr Ségolène Aymé has contributed to dozens of scientific articles, participated in numerous rare disease-related projects and committees, and plays a key role in bringing the scientific expertise in National and in EU-level policies designed to improve the situation for rare disease patients and those who care for them.

Her unflagging energy, intelligence and dedication are an inspiration for the rare disease community and make Dr Ségolène Aymé truly deserving of this EURORDIS Scientific Award.

Dr Ruxandra Draghia-Akli (MD, PhD) is Director of the Health Directorate at the Research & Innovation DG of the European Commission.

Dr Draghia-Akli received an MD from Carol Davilla Medical School and a PhD in human genetics from the Romanian Academy of Medical Sciences. She also completed a doctoral fellowship at the University of Rene Descartes in Paris and a post-doctoral training at Baylor College of Medicine (BCM), Houston, Texas, USA, where she was also part of the faculty.

She served as Vice-President of Research at VGX Pharmaceuticals (now Inovio) and VGX Animal Health. Her research activities have focused on molecular biology, gene therapy and vaccination. She is a global leader in the field of nucleic acid delivery for therapeutic and vaccination applications.

Dr Draghia-Akli has demonstrated her commitment to research in the field of rare diseases via the framework programme FP7 and her unique leadership when launching the International Rare Disease Research Consortium (IRDiRC).

The EU has taken the lead in creating an unprecedented international effort – IRDiRC – in April 2011, to foster international collaboration in rare disease research, a highly challenging area of medical research that has the potential to benefit tremendously from the recent advances in genomics, proteomics and other omics technologies.

IRDiRC now brings together the EU itself with France, Germany, Spain, UK, USA, Canada, Australia, leading pharma companies and pioneering biotechs, EURORDIS, NORD and more. The ambitious goal of this International Consortium is to develop 200 new therapies for rare diseases and the means to diagnose most rare diseases by the year 2020.

For her role in these initiatives and for her support of development of orphan medicinal products to treat rare diseases, Dr Ruxandra Draghia-Akli is the recipient of the EURORDIS European Rare Disease Leadership Award.

Ms Françoise Grossetête has been a Member of the European Parliament for almost 20 years.

With her leadership as MEP and Rapporteur on several legislations, two essential EU Regulations have been adopted on Orphan Medicinal Products in 1999 and the Regulation on Medicines for Paediatric Use in 2006.

Despite fierce opposition and often very sensitive political situations, her interventions in favour of the EU Regulations on Advanced Therapy Medicinal Products, and in the discussions around rare disease patients’ mobility within the negotiations on the Cross Border Healthcare Directive, have always been instrumental in achieving the best possible outcomes for rare diseases patients.

As a Member of the Committee on Environment, Public Health and Food Safety and as a Substitute of the Committee on Industry, Research and Energy, she has supported several amendments boosting research and securing Public Health projects in areas directly or indirectly making an impact on the rare disease field.

These major legislative steps, her unique dedication and her relentless commitment to addressing the needs of people living with rare diseases, have created a favorable environment for therapy development in Europe, and positively impacted the lives of rare disease patients and their families, thus making her the ideal recipient for the EURORDIS Policy Maker Award.

In 2004, Horst Köhler was elected Federal President of Germany (Mandate: 1 July 2004 – 31 May 2010). As First Lady and now Former First Lady of Germany, Eva Luise Köhler has campaigned for the interests of people with chronic rare diseases and has taken over the patronage of the German National Alliance for Chronic Rare Diseases: ACHSE. She is also the Chair of the Board of Trustees of the Eva Luise and Horst Köhler Foundation for people with rare diseases, created in March 2006.

Specifically, the Eva Luise and Horst Köhler Foundation supports research in the field of rare diseases. Its primary aim is to make sure that people with rare diseases receive an accurate diagnosis as early as possible so that they can be treated competently and effectively. The foundation provides funding for basic and clinical research and awards 50,000 euros to a research team on an annual basis on the occasion of the official Rare Disease Day.

“With the Foundation, we want to initiate and promote research projects improving the diagnosis, treatment, research and support programmes.”

Eva Luise Bohnet was born on 2 January 1947, in Ludwigsburg, Germany. After graduating in 1966, she studied German and History at the Pädagogische Hochschule in Ludwigsburg. In 1975, she took the second qualification examination for teaching at primary and secondary schools in Herrenberg. In 1969, she married Horst Köhler, a senior research fellow at the Tübingen Institute for applied economic research. Her daughter and son were born in 1973 and 1977 respectively. Between 1969 and 1977, Eva Luise Köhler worked as a teacher at a specialised school for children and young people with learning disabilities before taking a position as a primary school teacher in Bonn.

Ms Köhler’s daughter is affected by the rare disease Retinitis pigmentosa, a degenerative eye disease that causes severe vision impairment and often blindness. Ms Köhler’s daughter has become blind due to this disease.

The EURORDIS Lifetime Achievement Award is being presented to Mrs Köhler in recognition of her strong, lifelong dedication and commitment to addressing the needs of people living with a rare disease and for her contribution to the promotion of the rare disease cause in Germany. Mrs Köhler’s achievements in this field have inspired other First Ladies in various other European countries including Mrs Sandra Elisabeth Roelofs, First Lady of Georgia and Mrs May Panou Papoulia, First Lady of Greece.

Lesley Greene is a true pioneer of the rare disease movement in Europe. In 1980, upon the diagnosis of her first-born daughter at age 15 months, Lesley and her husband Peter Greene established the charity Research Trust for Metabolic Diseases in Children (RTMDC), dedicated to this group of disorders. RTMDC is now known as CLIMB (Children Living with Inherited Metabolic Diseases).

In 1995, Lesley was invited to join Abbey Myers (Founder of NORD) in Brussels, as a patient representative, to discuss the feasibility of developing an orphan drug legislation in Europe. After which RTMDC collaborated with other patient groups across Europe to support the adoption of the Regulation in 1999. Twelve years later, Lesley is still active with respect to the Orphan regulation via her role as patients’ representative on the Committee for Orphan Medicinal Products, where she has served since 2009, and in her current position as Vice-Chair of the Committee since 2012. Lesley was elected as a Founder Director of EURORDIS in 1997 and from 2001 to 2003 she was EURORDIS President.

Her experience as a mother of a daughter affected by a rare metabolic disease and her background as a teacher have enabled her to speak at many conferences for patients, regulators and industry, and to serve on many committees over the past 30 years. Her commitment to the rare disease movement has never faltered and she is truly deserving of this EURORDIS Volunteer Award.

Kay Parkinson is a unique leader who created an inspiring and exemplary patient organisation. After losing her two children because of late diagnosis of Alström disease, she studied law in order to better defend her children’s interests when she launched the patient organisation. Kay created Alström Syndrome UK in 1998 with three key aims:

• to help people with Alström Syndrome to provide support for their families, their care givers and the professionals who are working with them,
• to raise awareness amongst both the public and medical professions of Alström Syndrome,
• to raise funds for research into Alström Syndrome.

One of the key achievements of Alström UK is the development of patient led, NHS funded multi-disciplinary clinics for Alström Syndrome.Alström UK is a partner in the Euro-WABB project, an EU Rare Diseases Registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes. The EURO-WABB Project is a collaboration of doctors, scientists and patient support groups from all over Europe. It is supported by the EU Directorate General for Health and Consumers (DG-SANCO) via its Executive Agency for Health and Consumers. The overall aim for this register is to be a key instrument to increase knowledge of these rare diseases, improve the lives of affected people through better management, and to develop clinical research. Alström UK is recognised by the EURORDIS Patient Organisation Award for its long-term commitment and outstanding achievements for Alström Syndrome patients.

Genzyme is a pioneer in researching, developing and marketing medicinal products for patients living with diseases. Founded in 1981 to develop a treatment for Gaucher disease, Genzyme launched the world’s first enzyme replacement therapy in 1991. Now part of Sanofi, Genzyme, a Sanofi Company continues to offer hope to people living with genetic diseases, endocrine and cardiovascular diseases.

Genzyme has taken seriously its responsibility to increase patients’ access to the life-saving therapies it has developed. Strategies to increase access to Genzyme products include free drug programs and humanitarian initiatives. Genzyme began this practice in 1999, establishing the Gaucher Initiative, a humanitarian partnership to provide the Company’s first product to Gaucher disease patients in developing countries. Over time, similar programs have been developed to distribute new therapies for other diseases.

Genzyme supports numerous patient organizations worldwide. The Company is currently one of four co-funders of EURORDIS’ work in the EpiRare project, a three-year project designed to address the need for rare diseases registration throughout Europe. Genzyme is also a long-time sponsor of EURORDIS Membership Meetings and an Emerald Member of the EURORDIS Round Table of Companies.

EURORDIS is presenting Genzyme, a Sanofi Company with a EURORDIS Company Award in recognition of Genzyme’s, pioneering achievements to the benefit of rare disease patients and actions to ensure patients’ access to life-saving products.

Prosensa has achieved several Orphan Drug designations and developed an impressive clinical portfolio in the short time since its founding in 2002. With the Company’s commitment to “develop innovative, RNA based therapeutics to fill unmet medical needs for patients with genetic diseases”, Prosensa has the potential to make a life changing difference for people living with rare diseases.

Prosensa currently has several compounds in development for treating Duchenne Muscular Dystrophy (DMD), including a development in collaboration with GlaxoSmithKline for the development and commercialization of RNA based therapeutics for DMD. This alliance was established under GSK’s Centre of Excellence for External Drug Discovery, which seeks to collaborate with companies at the leading edge of highly innovative and transformative science.

Prosensa has established partnerships with the patient community through strategic partnerships with muscular dystrophy focused patient organisations, including EURORDIS Members Duchenne Parent Project, Aktion Benni & Co e.v., and the AFM (French Muscular Dystrophy Association).

EURORDIS is presenting Prosensa with this EURORDIS Company award in recognition of its innovation and promise for the future.