Eurordis - Rare Disease Europe

Pfizer is one of the world’s premier pharmaceutical companies, and has demonstrated commitment to the rare disease cause – with 22 approved products to treat rare diseases worldwide including 4 in Europe.

In 2010, Pfizer established its own Rare Disease Research Unit (RDRU), with the objective of taking an innovative and collaborative approach to the development of new medicines to create novel therapeutics across the spectrum of rare diseases. The current pipeline includes clinical and pre-clinical programmes in several rare diseases including sickle cell disease, haemophilia, muscular dystrophies, cystic fibrosis, and more.

Pfizer has been an active participant in the EURORDIS Round Table of Companies (ERTC) since 2007, contributing to thoughtful dialogue with ERTC member companies, EURORDIS and other rare disease stakeholders to work towards accelerated development and availability of rare disease treatments and care in Europe. Pfizer has also joined other companies in fostering the empowerment of rare disease patient organisations through support of EURORDIS’ capacity and community-building actions, such as the EURORDIS Membership Meetings. The Company continues to encourage partnerships with patient communities and advocacy organisations as well as nurture active dialogue with healthcare stakeholders and regulatory bodies.

Through this award, EURORDIS recognises the role major pharmaceutical companies can play in the development of, and ensuring access to, innovative treatments for rare disease patients. The award also encourages companies to maintain a high level of corporate social responsibility by reassessing the value of medicines today so as to ensure that unmet medical needs are covered in the development of new treatments. Through their actions, companies should work to cooperate with and support the actions of patient advocacy groups.

It is for these reasons Pfizer is a highly deserving recipient of the EURORDIS Company Award 2015 and it is our pleasure to acknowledge the contributions of the Company and its employees in the area of rare diseases.

Peter O’Donnell is a prominent writer and editor in the rare disease field currently working as Associate Editor of the European Voice.

His impressive career has spanned over twenty years and various countries and has included working for prestigious newspapers such as The Financial Times, The Sunday Times, Reuters, the Economist Intelligence Unit and United Press International. He has worked as an editor, editorial adviser and speechwriter for numerous clients in the corporate, political and academic world and has frequently chaired EU-level policy debates and lectures on EU affairs. This has made him very well placed to be able to write and report forthrightly on the various complicated and rapidly-evolving issues surrounding rare diseases such as policy, at which he is incredibly skilled.

Peter continues to become increasingly active in the rare disease community, demonstrating commitment and passion. In October 2013 he spoke at the Lunch Debate on Data Protection at the European Parliament. It is for these reasons that EURORDIS is delighted to award him this year’s Media Award.

Professor Kate Bushby (MD FRCP) is a Professor of Neuromuscular Genetics and currently holds joint appointments between Newcastle University and the NHS.

Her commitment to research in rare diseases, in particular inherited neuromuscular diseases, has been evidenced through her impressive publication list, clinical activities and involvement in policy actions.

Professor Bushby is actively involved in many European projects including being a founding co-ordinator of the TREAT-NMD Network of Excellence whose objective is to ensure that the most promising new therapies reach patients affected by neuromuscular diseases as quickly as possible.

Kate has played a leading role in the European and national rare disease policy area, acting as vice chair on the European Union Committee of Experts on Rare Diseases (EUCERD) from 2010 to 2013, which was mandated to assist the European Commission in the implementation of rare disease activities in all member states and she still acts in the capacity of invited expert on the new Commission Expert Group on Rare Diseases.

In November 2014, Kate Bushby along with Volker Straub and Hanns Lochmüller launched the John Walton Muscular Dystrophy Research Centre. The Centre will focus on three key research areas: translational research, innovative clinical trials and international networking.

The EURORDIS Scientific Award recognises her outstanding research achievements into inherited neuromuscular diseases and her commitment to patients. Her impressive body of work has seen her become a leader in the rare disease community at the forefront of developments in the field of translational medicine. Moreover, Kate has continuously demonstrated her true commitment to patients at many levels. This award serves to recognise her long-standing contributions that have shaped rare neuromuscular disease research and will continue to fuel the future of rare disease research as a whole.

Professor Josep Torrent-Farnell is a qualified Pharmacist and a specialist in Internal Medicine with a degree in Medicine and Surgery from the University of Barcelona as well as postgraduate courses in Pharmacology and Toxicology, Public Health and European Institutions and a doctorate in Clinical Pharmacology. He is a member of the Scientific Advice Working Party (SAWP) at EMA, Professor of Clinical Pharmacology and Therapeutics at the Autonomous University of Barcelona, and former Director General of the Fundació Doctor Robert, Advanced Centre of Services and Training for Health and Life Sciences.

Josep has consistently demonstrated extraordinary leadership in the field of rare diseases, beginning with his membership of the Committee for Orphan Medicinal Products (COMP) at the European Medicines Agency in 2000 where he later went on to serve as First Chairperson for 6 years. During this time Josep established a high standard of scientific evaluation for designation and provided much scientific advice and assistance. He is also a member of the European Task Force for Rare Disease (DG SANCO).

EURORDIS is delighted to present Professor Torrent-Farnell with the European Rare Disease Leadership Award as a symbol of his tireless devotion to, and his pioneering leadership of, the rare disease community. Not only has he determinedly supported the promotion of orphan drugs at conferences around Europe and the World but he has been instrumental in encouraging dialogue between EMA and FDA, was key to the creation of the Catalonian Alliance of People with Rare Diseases and became the 1st Chairperson of the Therapeutic Scientific Committee of IRDiRC. Josep continues to be a longstanding supporter of EURORDIS and the projects we undertake such as the Summer School and the Round Table of Companies Workshops and participates in collaborations with over 70 patient organisations.

Glenis Willmott, Labour Member of the European Parliament for the East Midlands in the UK since 2006 and three-time re-elected leader of the European Parliamentary Labour Party, has demonstrated outstanding dedication and commitment in addressing the needs of patients in the European Union.

Ms Willmott is an active member of various committees and forums such as the Environment, Public Health and Food Safety Committee, the Delegation for relations with Canada, and the MEPs against Cancer Forum.

Yet most remarkable of all, and the reason she is so deserving of the EURORDIS Policy Maker Award, is the instrumental role Ms Willmott has played in the passing of key legislation through her work as Rapporteur for the “Regulation on Clinical Trials on medicinal products for human use” and Shadow Rapporteur for the Regulation establishing a “Health for Growth Programme”. These two pieces of EU legislation have a tremendous impact on the lives of the estimated 30 million people living with a rare disease in Europe and demonstrate Ms Willmott’s devotion to improving the lives of people living with a rare disease.

Abbey Meyers is an extraordinary woman: once a housewife and mother from Connecticut, USA, Meyers was drawn into the world of political advocacy, fundraising and organisation development when it became painfully apparent through her experience as the mother of a child with Tourette syndrome, that patients with rare diseases were being neglected in favour of more common diseases that affected larger patient populations. Pharmaceutical companies believed that larger markets for medicines represented more profitable drugs.

Ms Meyers recounts the moment she realised that, although she was fighting because of one little child, who happened to be her son, she couldn’t possibly be the only family with this problem. To find out, she called up various support groups for other rare diseases asking ‘Are you having this problem too?’ and most of them said yes.

This realisation led her to found the National Organization for Rare Disorders (NORD) in the USA. 32 years later and NORD is an incredible organisation dedicated to helping people with rare diseases and to the identification, treatment and cure of rare diseases through education, advocacy, research and service. Indeed, NORD was the precursor and inspiration for the creation of EURORDIS.

This Lifetime Achievement Award serves to honour all that Ms Meyers has done for the rare disease community in the USA and throughout the world, her personal and tireless dedication to the cause and her instrumental role in the passage of landmark policies such as the Orphan Drug Act of 1983, which has served as the model for rare disease legislation beyond the USA. Although retired now, Ms Meyers continues to be an inspiration to rare disease patient advocates and was involved in the discussions around some of the earliest drafts of what later became the European Orphan Drug Regulation

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.