Eurordis - Rare Disease Europe

Cristian-Silviu Busoi, Member of the European Parliament since 2007, has consistently demonstrated a strong vision of patient centric, quality and accessible medical systems across Europe in this position.

A physician by training and a former lecturer in Public Health and Health Management at the Victor Babes University of Medicine and Pharmacy, Busoi has translated his expertise into concrete parliamentary action at the European Level. As a member of the ENVI Committee (on the Environment, Public Health and Food Safety) within the European Parliament, he has used this platform to champion patients’ rights in each country, launching the public “Patients’ rights” campaign, with particular attention to cross-border health care. Busoi has also advocated strongly for rare disease clinical trials, supporting a multi-centre collaboration at EU level to encourage partnerships between all rare disease stakeholders.

In specifically holding parliamentary events in support of rare cancers and rare diseases, such as on patient registries, and co-hosting the Rare Disease Day policy event to improve access to therapies for rare diseases, he has shown devotion and passion in addressing the needs of rare disease patients across Europe, making him a truly deserving winner of the EURORDIS Policy Maker Award 2016.

Renza Barbon Galluppi is believed to be a “wonder woman” for her ability and strength to be where she is needed at the right moment, even though it means attending conferences, meetings and workshops in three different cities in two days. It has been calculated that in the past few years she has spent an average of 15 hours a day in activities related to Rare Diseases advocacy and to answering individual patients or Patient Organisations and organizing projects to train Rare Disease patients’ representatives on key topics

. It all started with the diagnosis of a typical type of hyperphenylalaninemia given to two of her three children. The delay in the delivery of the diagnosis to her eldest daughter and its consequences led her first to start the collaboration with the Patient Organisation involved in metabolic diseases but shortly after with UNIAMO, the Italian Federation of Rare Diseases, to contribute to addressing all the transversal needs.

Firmly believing in the integration of disabled people in society, she became a scuba diving instructor for disabled people and President of the Parents Association for Rehabilitation through equestrian sports. Her daughter Laura won a medal at the Beijing Paralympics’ Games in this sport!

In the past 10 years, as President of UNIAMO, Renza has contributed to stressing the importance for patients with Rare Diseases to share their experiences within associations and promote their integration into the community in every facet of life.

In particular, she has advocated for patient representatives to be part of the expertise and decision making process, and has committed to the social innovation project, ‘Ristoro Fantasia’, overcoming mental and social barriers within young patients affected by rare diseases.

Her vision of a rare disease community, translated into a project, brought for the first time, all the national key stakeholders, including patients’ representatives, around the same table to share perspectives and objectives to improve the quality of care in order to overcome the inequalities linked to the regionalised health system. EURORDIS is pleased to award Renza with this Lifetime Achievement Award as it serves to honour all that Renza has done for the rare disease community.

Tsveta Schyns-Liharska has a Phd and Post doc in genetics from Wageningen University and the Free University in Amsterdam, respectively. As a parent of a daughter affected with the rare disease alternating hemiplegia, Tsveta has dedicated a considerable amount of time to caring for her daughter and to volunteering for the rare disease community.

Tsveta’s volunteer activities include being a patient representative on the Paediatric Committee (PDCO) of the European Medicines Agency since 2008 and for 8 years dedicating a massive amount of time and work as Scientific Coordinator of the European Register for Multiple Sclerosis Project. A true achievement has been the founding and running, as Secretary General, of ENRAH and the work Tsveta has done for the EU Public Health Programme.

This award serves to recognise all that Tsveta has accomplished in supporting so many rare disease organisations on a volunteer basis and to recognise her long and faithful service as a EURORDIS volunteer.

EURORDIS is especially pleased to present the organisation ‘UNIQUE’ as the 2016 Awardee of the Patient Organisation Award.

UNIQUE has been a source of mutual support and self-help to families of children with a rare chromosome disorder since it was founded by Edna Knight MBE in the UK in 1984 as the Trisomy 9 Support Group. Starting with 1192 families, to now representing over 14,000 families world-wide in over 90 countries, UNIQUE as an organisation has worked hard to raise awareness of rare chromosome disorders to professionals and to the general public so that they too have an appreciation of the extraordinary challenges their members face.

This incredibly well-deserved award serves to recognise the efforts and successes that have resulted from the hard work and determination of UNIQUE

EURORDIS is especially pleased to present the Foundation “Children with SMA” as the 2015 Awardee of the Patient Organisation Award. “Children with SMA” is a voluntary, non-profit foundation which has undertaken the incredibly difficult mission of supporting those affected by, or involved with, Spinal Muscular Atrophy (SMA) in Ukraine.

SMA is a motor neuron disease characterised by the progressive degeneration of nerve cells in the spinal cord and brainstem, leading to muscle weakness, muscle atrophy, and respiratory complications. Among genetic diseases, it is a leading cause of death among children under age two. For almost 10 years, Children with SMA has worked tirelessly on behalf of those who suffer from SMA, promoting knowledge around the disease and encouraging dialogue between legislators, doctors, researchers and patients.

This incredibly well-deserved award serves to recognise the efforts and successes that have resulted from the hard work and determination of Children with SMA in Ukraine such as its contribution to the adoption of the law for Rare Diseases in Ukraine in April of this year and the foundation of the Ukrainian National Alliance.

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.