2018 – Awardees stories

Recipients of the EURORDIS Black Pearl Awards 2018


Chris Sotirelis - EURORDIS Volunteer Award 2018
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...Read more

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.

Elena Gentile - EURORDIS Policy Maker Award 2018
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...Read more

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.

Professor Michele De Luca and Doctor Tobias Hirsch - EURORDIS Scientific Award 2018
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 life-changing gene therapy.... Read more

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.
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®.
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. .

Helene and Mikk Cederroth - EURORDIS Volunteer Award 2018
Helene and Mikk Cederroth are two passionate and dedicated patient advocates who have contributed remarkably to the undiagnosed rare disease cause....Read more

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 co-organized 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..

Sammy Basso - EURORDIS Young Patient Advocate Award 2018
Sammy Basso, who was born in Schio, Italy in 1995, is a patient advocate dedicated to raising awareness about Hutchinson-Gilford progeria... Read more

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.y.

Alastair Kent - EURORDIS Lifetime Achievement Award 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... Read more

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.

Dr Serge Braun - EURORDIS Written Media Award 2018
The awardee of the Written Media Award 2018 is Serge Braun for his book, ‘On peut changer le monde, en vendant des crêpes et des ballons.’... Read more

Dr. Braun worked for over a decade on neuromuscular diseases, working in university research, then in the private sector, where he conducted a gene therapy program dedicated to Duchenne muscular dystrophy, which led to the first worldwide clinical trial of gene transfer for a myopathy. He went on to work in cancer immunotherapy and HIV, whilst being vice-president of Alsace BioValley and co-founder of Neurofit, a company specialized in neurosciences.
From 2005, he joined the Association française contre les myopathies (AFM-Téléthon) and drove its scientific policy with one goal: the development of innovative therapies for rare diseases. The book for which he wins this award talks about both his experience as Scientific Director of the AFM-Téléthon as well as the cause of rare diseases and new developments in genetics, biology, and orphan drugs to cure these diseases.
Not only does the book didactically address scientific issues, it is through individual stories and anecdotes that Serge describes how the community has transformed the landscape of genetics, biology and orphan drugs. Through the testimony of families, researchers, doctors and volunteers, Serge gradually reveals the vision of ordinary people doing extraordinary things. Aimed at non-scientists as well as specialists, the book is both accessible and engaging, with profits going to the AFM-Téléthon.

Pulmonary Hypertension Association Europe - EURORDIS Patient Organisation Award 2018
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....Read more

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..

Professor Bruno Sepodes- EURORDIS Rare Disease Leadership Award 2018
The Rare Disease Leadership Award 2018 is being deservedly presented to Professor Bruno Sepodes, an exceptional leader with international influence...Read more

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.

Christopher Ulmer - EURORDIS Visual & Audio Media Award 2018
The recipient of the Visual & Audio Media Award 2018 is Christopher Ulmer, who, founded Special Books by Special Kids, a video project that seeks to normalise the diversity of the human condition.... Read more

After achieving a BA in Communications and a Masters Degree in Teaching, Christopher Ulmer became a teacher for children with disabilities ranging from brain disorders to autism, and was touched by the connection that he made with these incredible children who wanted to be understood in the world.
He decided to create a book series where his students explained life from their perspective. Originally denied by 50 publishers, Christopher turned to Facebook as a tool to publish his interviews via video and, after 6 months, the page had over 150,000 followers. Spurred on by the support of the rare disease community, Christopher began to interview patients outside of the classroom, and soon decided to do his video interviews full-time in the hope of bridging the gap between individuals with a diagnosis and the general public.
Since the creation of Special Books by Special Kids, the Facebook page has 1.6 million likes, as well as 200,000 Youtube subscribers and 245,000 Instagram followers. By connecting societies around the world, he has helped build a global dialogue around rare diseases and has built a media movement that supports acceptance regardless of diagnosis. This award recognizes how Christopher has helped to portray an unfiltered and genuine insight into what it means for individuals to live with a rare disease, and how he has, importantly, found an engaging way to reach those not directly part of the rare disease community.

Novartis - Company Award for Innovation 2018
The EURORDIS Company Award for Innovation recognises Novartis for its longstanding track record in developing medicines for rare diseases... Read more

Through effective collaborations with the scientific, medical and patient communities, Novartis has a promising pipeline to address many rare diseases, including rare cancers. In 2017, Novartis received the first FDA approval for a gene therapy to treat cancer in children and young adults.
EURORDIS applauds the innovation that is the hallmark of the rare disease community. There are over 6000 rare diseases, an estimated 30 million people living with a rare disease in Europe and 300 million worldwide. The fact remains that few treatments are available for the majority of these diseases; many have no appropriate treatment or go undiagnosed. Continued innovation through effective collaboration is needed now for the millions of people worldwide who are living with a rare disease, for which Novartis is an excellent example.

EFPIA, Bayer, UCB and MSD - Company Award for Patient Engagement 2018
The EURORDIS Company Award for Patient Engagement recognises the achievements of the European Federation of Pharmaceutical Industries and Associations, Bayer, UCB and MSD, in particular recognising their leadership as a group in championing the development of patient engagement activities within the Innovative Medicines Initiative, particularly through the PARADIGM project... Read more

It is timely to provide a framework that allows structured, meaningful, sustainable and ethical patient engagement throughout the development of medicinal products. In the longer term, this framework will strengthen both the understanding of stakeholders and system-readiness towards patient engagement across the diverse range of stakeholders, and ensure synergies with other initiatives focusing on the patient’s voice in the life cycle of medicines.
The development of an inventive and workable sustainability roadmap to optimise patient engagement across medicines’ R&D, demonstrates the inherent link between patient education, patient engagement and truly valuable innovation.
This Award celebrates commitment to meaningful engagement of patient representatives throughout the lifecycle of medicines.

2017 – Awardees stories

Recipients of the 2017 EURORDIS Black Pearl Awards


Elizabeth Vroom

Elizabeth Vroom EURORDIS Volunteer Award
“Receiving an award is very special, but even more so because this comes from a community I treasure and consider as family.”
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Elizabeth Vroom is mother to a son with Duchenne Muscular Dystrophy (DMD) and founded the Duchenne Parent Project in the Netherlands, of which she remains president to this day. In 2002, Elizabeth co-founded the United Parent Projects Muscular Dystrophy (UPPMD) through which she helped establish World Duchenne Awareness Day.“Receiving an award is very special, but even more so because this comes from a community I treasure and consider as family. I am very honoured to receive the Volunteer Award for 2017 as I know how many people like me work hard to change the lives and future of patients with rare diseases.”
Elizabeth Vroom
(Duchenne Muscular Dystrophy Video)

Aldo Soligno

Aldo Soligno
Media Award
“Boundaries for scientific research and solidarity (…) must not exist for rare disease patients.”
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In October 2014, Aldo Soligno 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.

“Spending days and weeks with families and patients suffering from a rare disease has meant so much to me to see how opposites can meet and turn into one another: weakness into strength, sadness into joy, despair into determination. Seeing this happen simultaneously in 7 different European countries has confirmed to me that there are no boundaries for scientific research and solidarity and they must not exist for rare disease patients too. I really hope this will be the legacy of my project.”
Aldo Soligno

Lucia Monaco

Lucia Monaco
Scientific Award
“The results we have seen over the past few years could not have been achieved without a strong collaboration among all of the stakeholders.”
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Lucia Monaco is Chief Scientific Officer at the Fondazione Telethon and has made a significant impact in the field of rare disease in Italy and abroad, in particular through her strong commitment to the IRDiRC initiative. Her personal enthusiasm, guidance and dedication inspires many scientists and clinicians to become involved in state-of-the-art research for rare diseases such as the development of gene therapies.

“I feel deeply honoured receiving this award, which I believe really recognizes the value of the organization which I have the fortune to work with, as well as the value and the extraordinary results of our scientists. The Fondazione Telethon is in Italy, it is a charity which is committed to fight rare genetic diseases and to do this we support excellent research, but our mission is to bring the results of this research to patients. The results we have seen over the past few years could not have been achieved without a strong collaboration among all of the stakeholders that are involved in this fight, but I also wish to thank the exceptional team work by all of my colleagues who equally deserve this award. And most of all I wish to acknowledge the role of patients and their families.”
Lucia Monaco

Anders Olauson

Anders Olauson
Lifetime Achievement Award
“Life is holistic, as should care and support be. Working together at the United Nations will make this possible.”
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Anders Olauson has devoted the past 30 years of his life to the rare disease cause. In 1989 he founded the Ågrenska Centre, a national competence centre in Sweden which provides support for people affected by rare diseases. Elected president of the European Patients’ Forum from 2005 to 2015, Anders remains Honorary President of the organization, which works to represent the patient voice at an EU level.

“I think it’s fantastic that I just want to share it with so many people to have this award. It’s a recognition that all the work you have done, all the travels and all the things and energy you have put in, that it has given a result and that result has been so greatly appreciated. I am totally honoured.

“To people in leading positions in government, who give people like me their trust and who also dare to open up boxes and do it in a different way

“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.”
Anders Olauson

Frederique Ries

Frédérique Ries
Policy Maker Award
“Frédérique Ries, Member of the European Parliament since 1999, has been a pioneer in the implementation of patient-centric health policies that focus on Union-added value”
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Frédérique Ries, Member of the European Parliament since 1999, has been a pioneer in the implementation of patient-centric health policies that focus on Union-added value, especially in the field of rare diseases. Her most recent work, a project proposal that promotes a continuous bottom-up research approach including patients, demonstrates Ries’ consistent dedication towards tackling rare diseases in the European Union


GSK – Accepted on behalf of Martin Andrews
Company Award
“This award goes to all the people who have the courage, determination and focus (…) to make a change for all people living with severe rare disease.”
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Since 2010, GSK has designated rare diseases as one of its core therapeutic areas. In 2016, after years of collaboration with Fondazione Telethon and Ospedale San Raffaele, GSK brought to market an innovative gene therapy to treat patients with the rare disease adenosine deaminase severe combined immunodeficiency syndrome (ADA-SCID).

“It is a huge privilege and a great honour, as well as humbling to accept this award on behalf of GSK. These awards are not dedicated to the individuals who receive them but dedicated to the universal people who make it happen. Since coming into the rare disease universe, I have felt overwhelmed by the welcome that you get, that everyone has a single-minded goal which is all around patient treatment and patient outcome. You don’t have to look very far to be inspired in this world. This award goes to all the people who have the courage, determination and focus, and who put in all their energy to make a change for all people living with severe rare disease. And of course to all the patients and families who drive us each day.”
Martin Andrews

Dravet - Accepted on behalf of Julian Isla & Isabella Brambilla
Patient Organisation Award
“EURORDIS is like my family.”
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The Dravet Syndrome European Federation was founded in 2014 by eight patient organisations in seven countries. They now work together to raise awareness and to fight the impact of Dravet Syndrome—also known as Severe Myoclonic Epilepsy of Infancy (SMEI)—on patients and their families.
“It is extremely important to us to receive this recognition. Personally for me EURORDIS is like my family. I attended the summer school 3-4 years ago and I have learnt so much from all that EURORDIS is doing. We are a new federation that has developed over the past 3 years. We created this federation with the determination of working on new treatments for Dravet, working in three pillars: Removing the barriers for research such as developing a new animal model to help facilitate treatment and how new drugs can be tested for Dravet. Digital transformation for our patients and preparing important and the right data for our clinicians, researchers, physicians and patients. And lastly collaboration between different multi-stakeholder groups. These are the 3 pillars in which we base our work.” Julian Isla.

All previous awardees’ stories (2012-2017)

Read all Awardees’ stories (2012-2017)