Eurordis - Rare Disease Europe

The EURORDIS Lifetime Achievement Award recognises outstanding individuals who have demonstrated a lifelong dedication to addressing the needs of people living with a rare disease. With this award, we would like to acknowledge the impressive scale of Birthe Byskov Holm’s cross-cutting achievements since the beginning of her involvement in rare disease advocacy, and specifically with the osteogenesis imperfecta community, more than 40 years ago.  

The extensive number of Birthe’s positions of trust, both in Denmark and internationally, is truly commendable. Her membership of the Danish Osteogenesis Imperfecta Society since 1983 and her former roles as President and Vice President are impressive in themselves, as is her role as Co-founder and President of Rare Diseases Denmark. Furthermore, her active engagement with the Center for Små Handicapgrupper and role as a patient voice representative on numerous Expert Committees at the Danish Medicines Council have truly helped to improve the lives of people with rare diseases and the development of therapies for their conditions.

On the international stage, Birthe has served as Vice-Chair of the Committee for Orphan Medicinal Products at the European Medicines Agency, and was also a member of the EURORDIS Board of Directors from 2012 to 2023. Her contributions have been truly invaluable, and with this award, we wish to honour Birthe and all of her achievements in rare disease advocacy.

The EURORDIS Lifetime Achievement Award goes to Terkel Andersen, a longstanding pioneer and leader in the rare disease community with broad experience in disability and health issues. Terkel served as member of the EURORDIS Board of Directors since 1997, when the organisation was founded, and as President of EURORDIS from 2003 until last year. He first became involved in the rare disease field back in 1983 when he joined a Nordic project on the mapping of problems related to rare diseases.
He served as president of the Danish Haemophilia Society from 1985 to 2017. During that time he was also a prominent AIDS advocate. 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 – a unique centre of its kind at that time. From 1992 to 2002, he served on the executive board of the World Federation of Hemophilia; and from 1993 to 1999, he was chairman of the European Haemophilia Consortium.
In his professional capacity Terkel worked with the Danish National Council for Volunteering until October 2018 promoting volunteer work across all areas of society.

The EURORDIS Lifetime Achievement Award goes to Dr William Gahl for the lifelong dedication he has shown in addressing the needs of people living with rare and undiagnosed diseases. Dr William Gahl graduated from the Massachusetts Institute of Technology and earned his M.D. and Ph.D. from the University of Wisconsin. He served as paediatric resident and chief resident at the University of Wisconsin hospitals and completed clinical genetics and clinical biochemical genetics fellowships at the NIH. Dr Gahl elucidated the basic defects in cystinosis and Salla disease and helped bring cysteamine to new drug approval by the Food and Drug Administration as the treatment for cystinosis. He has published over 530 peer-reviewed papers, trained 42 biochemical geneticists and cultivated international experts for dozens of rare diseases, syndromes and disorders. In 2008, he established the NIH Undiagnosed Diseases Program (UDP), which has made more than 300 rare disease diagnoses and discovered 30 new genetic diseases. Dr Gahl expanded the UDP to a national Undiagnosed Diseases Network and a worldwide Undiagnosed Diseases Network International. He established the American Board of Medical Specialties certification for medical biochemical genetics. Dr Gahl received the Dr Nathan Davis Award for Outstanding Government Service from the AMA, the Service to America Medal in Science and the Environment, and numerous other awards. In 2019, he was elected to the National Academy of Medicine. With this award, we would like to acknowledge the key role Dr Gahl has played in the creation of the National Institutes of Health (NIH) Undiagnosed Diseases Network (UDN) and its essential role in discovering many new genetic disorders. His unwavering support of the rare and undiagnosed disease cause and his patient-centred approach is demonstrated by the leadership role he played in the development of the International Network on Undiagnosed Diseases (UDNI). This notable achievement is bolstered by the work being done by the UDNI which he spearheaded as the Chair; the programme provides an admirable example of an international institution which brings together the undiagnosed community at the global level. UDNI has provided a structure and forum to exchange on undiagnosed cases for clinicians working around the globe. The importance of all his efforts in the field of rare disease research cannot be overstated, and we believe him to be a truly deserving recipient of this award.

The EURORDIS Lifetime Achievement Award recognises the lifelong dedication Milan Macek has shown in addressing the needs of people living with a rare disease in the Czech Republic and in Europe. It acknowledges his commitment to rare diseases within EUCERD, Rare 2030, the European Society of Human Genetics, the CF Network, Orphanet, and more. Perhaps most notable is chief advisor of the Czech EU Presidency under which the EU Council recommendation on an action in the field of rare diseases was adopted in June 2009 – a soft legislation that has served as the basis for the tremendous progress in the field over the last decades.
This award also recognises his current engagement in the Rare 2030 Research Advisory Board and his key role in leading progress for the Rare Disease Community in the Czech Republic, particularly his efforts to raise awareness on the importance of keeping rare diseases a European public health priority with colleagues in the new Czech EU Council Presidency team. Milan Macek’s lasting support to EURORDIS activities, notably the ECRDs, is highly appreciated.

Michael Griffith is the co-founder of Fighting Blindness, a charity set up in 1983 dedicated to funding research into retinal blindness. Diagnosed with retinitis pigmentosa (RP) as a young adult, Michael has lived through the gradual loss of his sight, now having less than 10% vision remaining. At the time of diagnosis, there was a lack of information on this condition, which affected not only himself, but many members of his extended family. Michael was motivated to make a difference and decided to invest in research through Fighting Blindness. Under his leadership, Fighting Blindness raised funds, and commissioned genetic scientists in Trinity College Dublin to start a project investigating the cause of RP. This group went on to be the first in the world to discover the first gene responsible for this condition. Since then, Fighting Blindness has invested nearly €20 million into Irish research, has had significant breakthroughs including potential treatments, and is one of Ireland’s leading medical research charities. After having three of his five daughters diagnosed with epidermolysis bullosa (EB), Michael went on to establish the charity Debra Ireland and the Medical Research Charities Group, and through these he has been a central figure in making a true and lasting difference for people living with EB, and other rare diseases, through his collegiate approach to advancing and funding medical research. Michael has been a key player in providing platforms that represent the patient voice, improve patient access and collaboration in research and in turn, influence the development of patient-centred health policy thanks to his innovative work with both Rare Disease Ireland and the Irish Platform for Patient Organisations, Science and Industry (IPPOSI). Michael also founded the Genetic and Rare Disorders Organisation (GRDO), a group acting as a national alliance for voluntary groups representing the views and concerns of people affected by genetic or other rare diseases. The EURORDIS Lifetime Achievement Award recognises his exceptional work and vast achievements as a leader and driver for change in the field of rare diseases. The ripple effect of Michael’s impact has been phenomenal, with his passion, drive and energy continuing to inspire others.

Alastair Kent is an expert in his field who has changed the face of genetic research in his long and dedicated career, providing patient support for children, adults and families living with different forms of genetic disorders.

A central figure in the UK, Europe and worldwide, he has influenced and advised patient organisations, the charitable sector and indeed government through the Department of Health. Campaigns led by Alastair have significantly influenced legislation to the benefit of patients and have received the gratitude of lawmakers. Since 2013 Alastair has sat on the NHS England Rare Diseases Advisory Group, the Genomics England Ethics Advisory Committee, the Scottish Medicines Consortium Task & Finish Group on Improving Access to Medicines for Patients with Rare Diseases and the Department of Health’s Rare Diseases stakeholder forum, which he has chaired from 2014.

Since 2004 he has sat on the Public Population Projects in Genetics (P3G) Ethics Committee and the UK Genetics Testing Network Steering Committee for the Department of Health since 2003. He has also sat on: the Royal College of Physicians (Now Joint Committee of the Royal College of Physicians, RCPath and British Society for Human Genetics) Clinical Genetics Committee (since 1997); the Association of British Insurers Genetics Advisory Committee (since 1996); and the European Alliance of Genetic Support Groups (since 1993) of which he became president in 1995.

Prior to becoming the director of Genetic Alliance UK, Alastair was director of Action for Blind People between 1989 and 1993, as well as being Director of Education, Employment and Residential Services at the Royal National Institute for Deaf People between 1986 and 1989. From 1982 until 1986 he was Principal of Barnstead Place at Queen Elizabeth’s Foundation for the Disabled, before which he worked as a County Careers Officer specialising in special needs for North Yorkshire County Council between 1981-82. From 1977-1981 he was a Specialist Careers Officer for Cambridge County Council and before this was a careers officer for Norfolk County Council from 1973 until 1977. From 2007-2013 Kent was a member of the ethics committee for the ‘1000 Genomes’ International Project. Between 2008 and 2011 he was on the EMEA committee for advanced therapies. He has been recognised by his country for his numerous services to healthcare with an OBE, and thus we hope that this Lifetime Achievement Award from EURORDIS is a fitting recognition from fellow representatives and practitioners of the rare disease community.

Anders Olauson has devoted the past 30 years of his life to the rare disease cause, notably rare conditions affecting the lives of children and their families. Through personal experience, Mr Olauson comments: “Having a rare disease affects all aspects of life; experiences from thousands of families worldwide tell the same story. All areas of life – healthcare, social services, schools, insurances and labour – must work together. Life is holistic, as should care and support be. Working together at the United Nations will make this possible.”

Taking action to provide a platform for people living with a rare disease, Anders helped found the Ågrenska Centre in 1989, a national competence centre based in Sweden providing support for children, teenagers and adults affected by rare diseases. Here, he continues to serve as Chairman and established the Ågrenska Academy, a virtual centre for information, research and the dissemination of knowledge of rare diseases. His work also involves contact with legislative bodies on both a national and regional level, healthcare professionals, education and labour unions and other key players in the field of rare diseases.

Anders brought his enthusiasm and experience to his role as the President of EURORDIS-Rare Diseases Europe in 2000, as well as adherence as a member of the EURORDIS Board of Directors from 1999 to 2010. EURORDIS appointed Anders as its representative at the European Patients’ Forum (EPF); elected President from 2005 to 2015, Anders is now the Honorary President of EPF. EPF is active in the field of European public health and health advocacy representing the patient voice on an EU level.

Since 2006, Anders has been a member of the Advisory Group for Health Research within the Directorate-General for Research and Innovation of the European Commission. The Swedish Government also appointed Anders as a member of the Advisory Council at the National Board of Health and Welfare in 2008, serving until 2014.

Anders’ continued efforts have led to his involvement with the NGO Committee for Rare Diseases, initiated by Ågrenska and EURORDIS. This committee’s objectives are to increase the visibility of rare diseases on a global level, as well as to make rare diseases a priority in public health, research, medical and social care policies.

Anders’ vision and goals for the rare disease community are reflective of his long-term dedication to rare diseases. EURORDIS is delighted to award Anders with this Lifetime Achievement Award as it serves to honour all that Anders has done for the rare disease community.

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.

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

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

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.