Eurordis - Rare Disease Europe

Pulmonary Hypertension Association Europe is dedicated to improving the lives of patients living with pulmonary hypertension (PH) in Europe by working with its members to enhance awareness of PH, promoting optimal standards of care for people living with the disease, ensuring the availability of all approved treatments and encouraging research for new medicines and therapies. Founded in Vienna in 2003, the organisation has grown to a level where it now includes 29 patient associations from 33 countries in Europe. Their call to action, which was presented in the European Parliament in 2012, is to improve access to expert care, improve awareness and screening, encourage clinical research and innovation, empower patient groups and ensure the availability of psychosocial support.

The European Parliament event on Organ Donation and Transplant in October 2016, initiated by PHA Europe, is an example of how far the organisation has succeeded in reaching out to the decision makers at EU level, thanks to close collaboration with the European patient federations for diseases where organ transplants are relevant. Four representatives from PHA Europe are also members of the ePAG (European Patient Advocacy Group) network. PHA Europe recently conducted their ‘white spots’ programme. PHA identified countries in which there are no PH patient associations – ‘white spots’ – and consequently, in European countries with more than one million citizens, only two countries remain with no patient associations. PHA continued to grow with their fellowship programme, which aims to improve communication between member associations.

The Annual PH European Conference (APHEC) gives member associations opportunities for capacity building as well as for information and education. The 2016 APHEC featured three international PH medical opinion leaders as speakers, a cardiologist, a pulmonologist and a paediatrician, who provided the attendees with the latest information on treatment strategies, surgery and research.

Sammy Basso, who was born in Schio, Italy in 1995, is a patient advocate dedicated to raising awareness about Hutchinson-Gilford progeria. Sammy is the eldest of approximately one hundred people in the world living with progeria, and currently studies natural sciences, focusing on biology.

Whilst only 9 years old, he helped to created his own advocacy group, l’Associazione Italiana Progeria Sammy Basso, which has been instrumental in informing the general public and promoting the need for, progeria research.

Together with Bologna’s Institute for Molecuar Genetics – National Research Council (IGM-CNR), l’Associazione Italiana Progeria Sammy Basso created the Italian Network for Laminopathies, a group of Clinical and Research Centers performing clinical and molecular diagnosis or biomedical research in the field of laminopathies. As the driving force behind his advocacy group, he has been unstoppable in fulfilling his dreams to explore the world despite the apparent limitations of his condition, shown in his Nat Geo People Documentary, Il viaggio di Sammy, which documented his trip to the USA along Route 66, and his book of the same name.

Sammy plans to become a researcher and contribute actively to the study of progeria, for which he has already been instrumental in raising awareness.

The recipients of the EURORDIS Scientific Award 2018 are Professor Michele De Luca and Doctor Tobias Hirsch, as well as their respective teams at the Centre for Regenerative Medicine “Stefano Ferrari” (CMR) at the University of Modena and Reggio Emilia (Italy) and the Severe Burn Injury Centre of the University Hospital of the Ruhr University, in Bochum (Germany) for their collaboration in developing a lifechanging gene therapy.

This therapy, which enables the human epidermis to regenerate through the use of transgenic stem cells, recently saved the life of a young boy named Hassan, affected by the rare disease junctional epidermolysis bullosa (EB). There are many forms of EB, most of which result in blistering and lesions of the skin and mucosal membranes. Due to the lack of available treatments, this disease significantly reduces the patient’s quality of life and can also be life-threatening.

Doctor Tobias Hirsch’s scientific career includes a past as a resident in Plastic Surgery at the University of Heidelberg. Between 2007 and 2010, he was a Postdoctoral Research Fellow at the Laboratory of Molecular Oncology and Wound Healing, at the BG University Hospital Bergmannsheil, Ruhr University Bochum, Germany. Additionally, between 2005 and 2007 he was a Postdoctoral Research Fellow and Member of Faculty in the Division of Plastic Surgery, at the Harvard Medical School, Boston, MA, USA.

After trying established therapies without success, Dr Tobias Hirsch’s medical team from Bochum, Germany decided to adopt an experimental approach. They took a sample of Hassan’s skin which was unaffected by the bacterial infection and sent it to Modena, where Prof De Luca’s team cultured in the lab a large amount of transgenic epidermis. This new skin derived from genetically modified stem cells was then transplanted onto the wound surfaces. Hassan is the first patient worldwide to have been treated successfully in the entire body by this gene therapy that was developed after many years of research by Prof Michele de Luca and his team, an exemplary example of cross-border scientific collaboration. Phase I/II clinical trials are now being carried out also on other types of epidermolysis bullosa. In the future it could be extended to treating other genetic skin conditions. Professor Michele De Luca is the Director, co-Founder and Scientific Director of Holostem Terapie Avanzate S.r.l. and the author of over 120 peer-reviewed publications. Through these ventures, he has exhibited his dedication to innovation in healthcare. In 2017, he was awarded The Niche’s Stem Cell Person of the Year Award. In 2014, Michele was one of the winners of the ISSCR Public Service Award for his involvement in public debate and policymaking in Italy and their championing of rigorous scientific and medical standards and stringent regulatory oversight in the introduction of new stem cell treatments into the clinic.

Prof De Luca and Prof. Graziella Pellegrini at CRM are also leading other innovative stem cell and regenerative medicine work including the development of Europe’s first stem cell-based ATMP (Advanced Therapy Medicinal Product), in the form of a new adult stem cell-based therapy for vision loss called Holoclar®

The Rare Disease Leadership Award is being deservedly presented to Professor Bruno Sepodes, an exceptional leader with international influence.

Currently Professor of Pharmacology and Pharmacotherapy at the Faculty of Pharmacy of the University of Lisbon, he develops his research in Pharmacology and Translational Medicine. Simultaneously, he is completing his final year as Chair of the Committee for Orphan Medicinal Products (COMP), and is a member of the Committee for Human Medicinal Products (CHMP) and of the Committee for Advanced Therapies (CAT) at the European Medicines Agency. His collaboration with the European Medicines Agency started as a member of the COMP in 2008 and followed as a member of the Patients’ and Consumers Working Party during 2012. Bruno has exhibited his expertise further as an expert for the National Medicines Authority (INFARMED) and for the Veterinary General Directorate (DGV). Concerning the involvement in research projects, international collaborations include the William Harvey Research Institute (UK) and other relevant research institutes.

A true leader in his field, Bruno has authored and co-authored over 70 scientific publications in international journals, and more than 100 scientific communications (on pharmacology, toxicology and therapeutics), presented to national and international scientific meetings. The EURORDIS European Rare Disease Leadership Award recognises Bruno’s long-standing collaboration with the European Medicines Agency and indeed EURORDIS as well as his outstanding leadership and commitment to the importance of including patient advocates as equal stakeholders in all discussions and decisions.

Elena Gentile is an Italian politician who has supported the rare disease cause since she began practising as a paediatrician in Italy and throughout her political mandate. After gaining a degree in medicine and working as a paediatrician in Cerignola Hospital, Elena Gentile began her political career and, from 1985, she spent five years as Councillor for Health, Environment and Social Services in Cerignola, Italy and was elected Mayor of the city in 1991. As a respected political figure, she has used her position as a Member of the European Parliament since 2014 to help give a voice to Idiopathic pulmonary fibrosis (IPF) patient groups by supporting the first European IPF Patient Charter in EU Parliament and by mobilising MEPs around a written declaration on IPF. She has demonstrated her determination to collaborate with member states to enable access to EMA approved orphan products for IPF patients. Elena Gentile further exhibited her dedication to the improvement of rare disease policy through her support of the Parliamentary Advocates for Rare Diseases, a EURORDIS initiative which launched in October 2017. Her ongoing collaboration with UNIAMO, the Italian National Alliance for Rare Diseases, has resulted in the organisation of the photographic exhibition ‘Rare Lives’ at the European Parliament; and she is supporting the high level meeting on the European Reference Networks (ERNs) organised by the Rare Bone Diseases Network (ERN BOND) at the European Parliament on the occasion of Rare Disease Day 2018.

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.

Helene and Mikk Cederroth are two passionate and dedicated patient advocates who have contributed remarkably to the undiagnosed rare disease cause. Together they are the founders of the Wilhelm Foundation, which helps approximately 3 in 10,000 children who suffer from often fatal undiagnosed brain diseases. Helene and Mikk tragically lost three children due to undiagnosed rare brain conditions and made the courageous decision to dedicate their lives to the undiagnosed rare disease cause. By helping unite experts in different fields, Helene and Mikk have been instrumental in increasing the chances of people getting a diagnosis.

Throughout their lives they have both provided help, support and love, to patients and their families, particularly through Wilhelm Foundation’s ‘silver lining’ initiative, whereby they help provide gifts or experiences to bring joy to families affected by brain conditions. In September 2014, they coorganized the First International Congress for Undiagnosed Diseases, and soon after launched the Undiagnosed Diseases Network International together with the NIH and other partners. The Second International Congress for Undiagnosed Diseases congress was in Budapest 2015, the third in Vienna 2016 February, the fourth in Tokyo in November 2016 and the fifth in Stockholm their home town in August 2017.

The purpose of these congresses is to encourage and develop collaborations that will significantly improve diagnosis of unsolved patients for all undiagnosed conditions, not just neurological ones. Their admirable fight to turn a loss into something so positive and constructive for the rare disease community is why they are being awarded one of the EURORDIS Volunteer Awards this year.

Chris Sotirelis is a patient with beta thalassaemia major. He has been a tireless patient advocate for EURORDIS and the rare disease community at national and international level for many years. He was involved in the first ever thalassaemia clinical outcomes patient registry until 2001. His expertise includes the setting up of the National Haemoglobinopathies Register (NHR), and previously being the UK Thalassaemia Society representative on the NHR commissioning group. Since then he has been directly involved in the development of surveys to assess patient quality of life.

More recently, he has been leading the creation of a PROM (patient reported outcome measure) aimed at being integrated within the NHR. Its aim is to elicit areas of inequity and on how patients experience the impact of their treatment. His earlier work within the Sickle Cell and Thalassaemia Screening Programme Steering Group Committee has allowed him to give a patient perspective and help develop the ethics underlying screening for a genetic condition like thalassaemia, as well as on issues of “informed consent” and “informed choice.”

As one of the European Medicines Agency’s (EMA) experts, affiliated to EURORDIS, he has strived to increase engagement in patient-critical areas within the wider EMA regulatory framework, and has been consulted on many Health Technology Assessment (HTA) Parallel Scientific Advice sessions.

He has been an invited speaker to many conferences and workshops on Access and Reimbursement and, notably, has presented the “Patient perspective on HTAs for Personalised Medicine” during the plenary session debate of the HTAi conference in Bilbao in 2012. He is very engaged as the lead representative of his patient community in NICE Health Technology Assessments (Single and Multiple Appraisals) and in drafting national commissioning policies for standard specification of care and orphan medicinal products for thalassaemia patients.

Aldo Soligno is an emerging talent in Italian documentary photography. In October 2014, he led the project ‘Rare Lives’, a powerful photographic storytelling tool that gives an insight into the daily lives of people living with a rare disease. It investigates the needs, hopes, difficulties, but above all, the joys and daily achievements of those living a ‘rare life’.

This project was carried out through home visits to 28 families in 7 European countries thanks to the collaboration with UNIAMO, the Italian Federation of Rare Disease associations. Through Aldo’s work, he has inspired other projects, such as #MaketoCare, that in turn, have placed a spotlight on the rare disease community. The project was published in six major European magazines and was the object of several talks and presentations. It was also broadcast on the Italian national television channel RAI.

Aldo receives the Media Award for his dedication and continued efforts to increase the visibility of people living with a rare disease.

Dr Lucia Monaco graduated in chemistry in 1979 from the University of Pavia and received her training in biochemistry at the University of Iowa in Iowa City, USA and in molecular biology at the European Molecular Biology Laboratory in Heidelberg, Germany.

In her role as Chief Scientific Officer at the Fondazione Telethon, she has made a significant impact in the field of rare genetic diseases in Italy and abroad, in particular through her strong commitment to the IRDiRC initiative.

Dr Monaco has also shown strategic vision in developing Fondazione Telethon’s Rare Disease Programme and linked it with both academic and commercial partners, as well as patient organisations across Europe. She has maintained a significant presence at scientific and patient centred meetings including (IRDiRC), ICORD, and EURORDIS-Rare Diseases Europe.

Moreover, she has actively supported and shaped key research infrastructure developments in the field of rare diseases, particularly related to biobanking and data sharing via EuroBioBank and RD-Connect. Her personal enthusiasm, guidance and dedication inspires many scientists and clinicians to become involved in state-of-the-art research for rare diseases including the successful development of gene therapies. The EURORDIS Scientific Award recognises the major impact Dr Monaco’s work has had on rare diseases.

Frédérique Ries, Member of the European Parliament since 1999, has been a pioneer in, and a committed advocate for, the implementation of patient-centric health policies that focus on Union added value, of which rare diseases constitute the prime example.

As a member of the Committee on the Environment, Public Health and Food Safety within the European Parliament, Ries’ support and groundwork were instrumental in achieving the adoption of the Regulation on Advanced Therapies in 2007. Increasingly campaigning for the rights of patients with rare diseases, she then collaborated with EURORDIS in 2008 to organise the first Public Hearing on Rare Diseases at the European Parliament for Rare Disease Day. In 2015, she presented a written declaration on improving treatment for rare diseases along with other Members of the European Parliament.

Her most recent work, presenting a proposal for a Pilot Project on a Foresight Study on Rare Diseases (Rare 2030) that promotes a continuous bottom-up research approach with participation from all stakeholders including patients, is proof of Ries’ dedication towards tackling rare diseases in the European Union. For all of this, she is the unequivocal winner of the EURORDIS Policy Maker Award 2017.

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.