Eurordis - Rare Disease Europe

As a rare disease patient herself, and the mother of a son of the same condition, Rosa Sánchez de Vega is a truly remarkable woman who has successfully managed to channel her difficulties and struggles with Aniridia into a positive force for change. Rosa first entered the world of rare diseases in 1996 when she founded the Spanish Aniridia Association, for which she served as president until 2008. In 1999, she went on to co-found the Spanish Alliance for Rare Diseases (FEDER), serving first as Vice President and then President until 2010.

Convinced that nothing could be achieved but at European level, Rosa joined the EURORDIS Board of Directors in 2003 and has served as Vice President from 2006 until 2013. She has been recently appointed President of the European Federation of Aniridia, Aniridia Europe.

Ms Sánchez de Vega is an incredibly deserving recipient of the Volunteer Award as she has worked tirelessly and selflessly, often putting the rare disease cause beyond her own needs, in order to shine a light on rare diseases and improve the lives of others. She has been a source of inspiration to many and she continues to be a faithful and long-standing supporter of EURORDIS.

Allianz Chronischer Seltener Erkrankungen (ACHSE), the German National Alliance for Rare Diseases was founded in 2004. The umbrella organisation represents 120 rare disease patient organisations in Germany.

ACHSE has been instrumental in strengthening the voice of rare diseases and turning Germany into one of the most committed Member States in the European Union for rare diseases in the fields of research, information, healthcare organisation and drug development. This is especially true in recognising the outstanding achievement of ACHSE in its contribution to the progress of the German National Plan for Rare Diseases, (NAMSE), which was presented to the German Health Minister in September 2013.

The organisation is very active in raising awareness of rare diseases in Germany, having participated in Rare Disease Day since its launch in 2008, and by enlisting Eva Louise Köhler, the former First Lady of Germany, as an official patron of the organisation. ACHSE promotes research into rare diseases by empowering its member organisations, through networking activities, and by coordinating the selection process of its scientific board, which proposes the awardee of the annual Eva Louise Köhler Research Award. This award offers € 50 000 towards funding rare disease research projects.

EURORDIS are grateful for ACHSE’s cooperation in the Council of National Alliances, which brings together national experiences and strategies to produce a strong European framework. ACHSE is exemplar of a valuable and effective platform for rare diseases, making them most deserving recipients of the EURORDIS Patient Organisation Award 2014.

Orphan Europe, forming part of the Recordati group, has 25 years’ experience in bringing orphan medicinal products to the market. Seven orphan products produced by Orphan Europe have been authorised to date and this rich portfolio of successful treatments is supported by the robust pipeline of medicines in development.

Orphan Europe’s support in the development of European Reference Networks EuroWilson, EPNET, E-IMD, E-HOD has helped to provide European guidelines for best care and treatment of rare disease patients. Strong alliances with patient organisations mark the central point of Orphan Europe’s platform for therapy development, working alongside patient organisations for cystinosis, renal genetic diseases (AIRG), metabolic diseases and porphyrias.

The company’s encouragement of staff to volunteer at therapeutic recreation summer camps serving children with serious illness is a further example of Orphan Europe’s commitment to the rare disease community.

Orphan Europe is one of the industry representatives within the Commission Expert Group on Rare Diseases (replacing the EUCERD). A member of the EURORDIS Round Table of Companies (ERTC), Orphan Europe also consistently supports networking and capacitybuilding for rare disease patient advocates via the EURORDIS Membership Meeting.

Sobi, established in 2001, is an international healthcare company dedicated to rare diseases, focusing on developing innovative treatments across four key therapeutic areas: haemophilia, inflammation/autoimmune diseases, inherited metabolic diseases and oncology.

The two EU authorised treatments, with a third that is provided on special license, is supported by Sobi’s many other products in development. Sobi is particularly sensitive to the need for targeted treatments that are accessible to paediatric populations.

As a pharmaceutical company Sobi is dedicated to working with all stakeholders to develop successful treatments for rare disease patients. Their strong involvement in the unique initiative, Alkaptonuria DevelopAKure consortium, is exemplary of this.

Sobi’s track record of creating successful dialogue with patient communities demonstrates their objective for a transparent and progressive rare disease framework. Sobi is represented on several European Union committees such as the Commission Expert Group on Rare Diseases (replacing the EUCERD) and the working group on Mechanism of Coordinated Access to Orphan Medicinal Products (MOCA-OMP).

Sobi supports networking and capacity-building for rare disease patient advocates via the EURORDIS Membership Meeting. This award recognizing the excellence and consistency of Sobi’s work in the rare disease community also marks 10 years of membership in the EURORDIS Round Table of Companies (ERTC).

Rick Guidotti is “changing the world, one picture at a time”.

A graduate of New York’s School of Visual Arts, Rick Guidotti led a successful career as a fashion photographer, working between New York, Paris and Milan for high profile clients such as the fashion house Yves Saint Laurent and magazines Elle and Harpers Bizarre. Every day he photographed what society deemed the most beautiful people in the world.

This perspective was called into question after a chance encounter with a beautiful young girl living with the rare disease Albinism at a New York City bus stop. When he began to research the disease, he was troubled by the dehumanisation of people with rare diseases in medical text books.

Since then, Rick Guidotti has launched a non-profit organisation, Positive Exposure, to change public perceptions of people living with genetic, physical and behavioural differences. The association runs educational and advocacy programs, organises exhibitions in public places and works with other NGOs and medical societies to give “positive exposure” to the beauty of those living with rare diseases.

His work has been recognised internationally, raising public awareness for the beauty of difference. He has given confidence, self-belief and humanity to people frequently defined by their diagnosis. It is in the essence of his approach to changing the perception of beauty on a global scale for people with rare diseases that EURORDIS awards the EURORDIS Media Award 2014 to photographer Rick Guidotti.

Hans-Hilger Ropers is Director at the Max-Planck-Institute for Molecular Genetics in Berlin and Professor of Human Genetics at the Humboldt University. Between 1984 and 1997, he headed the Institute for Human Genetics at the University of Nijmegen, the Netherlands, and since 1987, he has been board-certified as a Clinical Geneticist.

Dr Ropers has made many contributions to the molecular elucidation of monogenic disorders by positional cloning, with a focus on eye diseases, deafness and particularly mental retardation (MR).

His department forms part of the European MRX Consortium which plays a central role in researching the molecular causes of X-linked mental retardation, and more recently, he has implemented very high resolution array CGH for the high-resolution detection of small unbalanced rearrangements in large cohorts of patients with monogenic and complex disorders.

Dr Ropers has also set out to study autosomal recessive forms of MR and related disorders in a systematic manner, employing whole genome SNP typing for homozygosity mapping in large consanguineous families in developing countries. In total, Dr Ropers has published over 300 research articles.

Between 1985 and 1993, H.H. Ropers served as Chromosome Chair and Co-Chair at several Human Gene Mapping Conferences. He is a member of HUGO since the year of its inception as well as member of the HUGO Council and the Human Genetics Meeting Scientific Program Committee. Dr Ropers has served on numerous editorial boards and is member of the Royal Netherlands Academy of Arts and Sciences and of the Berlin-Brandenburg Academy of Sciences.

It is in recognition of Dr Roper’s scientific excellence and untiring dedication to put single gene disorders into focus worldwide that we award Dr Hans-Hilger Ropers the EURORDIS Scientific Award 2014.

In 2014 EURORDIS has decided to jointly award three leaders for the European Leadership award to recognise their leadership and support for rare diseases and their capacity for far-reaching, innovative policies.

Our intention in awarding three Italians is to pay tribute to their pioneering European spirit and continuation of the work that other renowned Italians began, such as Altiero Spinelli and Alcide De Gasperi in the construction of the European Union as well as more recently Mario Monti.

Paola Testori Coggi, biologist by education, was nominated as Director General for Health and Consumer Protection at the European Commission in 2010. In this position, she has facilitated European cooperation in the field of rare diseases through several important steps. For instance, the approval of the rare disease priority within the Health for Growth Programme; the adoption of a fundamental piece of legislation to facilitate patient mobility through the Directive on Patients’ Rights in Cross-border Healthcare, crucial for rare diseases patients; as well as by taking the responsibility for the European Medicines Agency within her Directorate General.

Professor Guido Rasi MD became Executive Director of the European Medicines Agency (EMA) in 2011 and has been pivotal in increasing the transparency of the agency’s work. He has encouraged more dialogue between patients, heads of scientific committees, and health technology assessment (HTA) bodies, and promotes access to clinical trial data. Professor Rasi’s overarching leadership and drive for collaboration between all rare disease stakeholders has undoubtedly facilitated the road to the authorisation of orphan products in Europe.

Professor Luca Pani MD, D.Psych undertook the role of Director General of the Italian Medicines’ Agency (AIFA) in 2011. In this position he has emphasised the importance and urgency in creating orphan medicinal products, ensuring investment into rare disease research and granting the access to sustainable and successful treatments for those living with a rare disease. As a leader, Professor Pani has used initiative and experience to drive the equal access to cures for rare diseases, not only in Italy, but in Europe as a whole.

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.