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Black Pearl Awards – Awardees

EURORDIS – Rare Diseases Europe wishes to recognise the major achievements and outstanding commitment of patient advocates, patient organisations, policymakers, scientists, companies, and members of the media who strive to make a difference for the rare disease community.

We would like to thank everyone for the hundreds of quality nominations we received! Although we would love to be able to award all of the stars of the community, we must limit the number of awardees each year to 11 categories, appointed by the EURORDIS Board of Directors.

Our 2024 Black Pearl Awardees will be announced on this page every week leading up to the ceremony. Stay tuned! 

Learn more about the Award Categories.

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Helene and Mikk CederrothAward name: Volunteer AwardYear of the award: 2018

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 SotirelisAward name: Volunteer AwardYear of the 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. 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 SolignoAward name: Media AwardYear of the award: 2017

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 MonacoAward name: Scientific AwardYear of the award: 2017

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 RiesAward name: Policy Maker AwardYear of the award: 2017

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 OlausonAward name: Lifetime Achievement AwardYear of the 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.

The Dravet Syndrome European FederationAward name: Patient Organisation AwardYear of the award: 2017

EURORDIS is especially pleased to present the 2017 EURORDIS Patient Organisation Award to Dravet – the Dravet Syndrome European Federation. Dravet was founded in 2014 by eight patient organisations in seven countries, who have worked together to raise awareness and to fight the impact of Dravet Syndrome, otherwise known as Severe Myoclonic Epilepsy of Infancy (SMEI), on patients and their families.

The organisation now counts thirteen members and aims to help people in countries without local support and associations for Dravet Syndrome. Among many other actions, Dravet raises awareness about this rare disease, looks for solutions to improve the quality of life of patients and helps countries to create their own association.

Dravet continues to stimulate research and development into treatments by specialist physicians and researchers for the 1 in 20 000 individuals affected by this Rare Disease.

This incredibly well deserved Award serves to recognise the efforts and successes that have resulted from the hard work and determination of those at Dravet.

Elizabeth VroomAward name: Volunteer AwardYear of the award: 2017

Elizabeth received a degree in Dental Medicine (DMD) from the University of Groningen, before specialising in Maxillofacial Orthopedics and Orthodontics at Radboud University Nijmegen. She uses her expertise to help Duchenne Muscular Dystrophy (DMD) patients with orthodontic problems.

A mother to a son with DMD, she 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) and serves as Chair.

She has spent over 20 years dedicating her efforts to raising awareness, to raising funds, to educating and to working to see that patients receive optimal care, as well as helping to set up patient organisations around the world.

She has served on a number of advisory boards for patient care, research, ethics, development of new medicines and regulatory issues in the Netherlands as well as on pan-European ones. She has also been a member of EURORDIS’ RD-Connect Joint Patient Advisory Council and currently chairs the TREAT-NMD Project Ethics Council.

Elizabeth shared her expertise at EURORDIS’ 2015 and 2016 Summer Schools. EURORDIS’ Summer School aims to empower patient representatives in the areas of clinical trials and EU regulatory affairs.

Elizabeth established the World Duchenne Awareness day. All those who joined to celebrate this day in 2016: 88 advocacy groups in 40 countries, have highlighted its success. This Award serves to recognise all that Elizabeth has accomplished in supporting so many rare disease organisations and her longstanding commitment to the rare disease community.

GlaxoSmithKlineAward name: Company AwardsYear of the award: 2017

GSK is one of the world’s largest pharmaceutical companies, developing pharmaceuticals, vaccines and consumer healthcare products. Beginning in 2010, the Company has dedicated rare diseases as a core therapeutic area. In 2016, years of collaboration between GSK, Fondazione Telethon and Ospedale San Raffaele brought to market an innovative gene therapy to treat patients with the rare disease Adenosine deaminase severe combined immunodeficiency syndrome (ADA-SCID). This advancement shows the results of partnership between patient organisations, clinicians, large and small companies to develop and make available treatments to meet unmet needs of rare disease patients.

GSK has been an active member of the EURORDIS Round Table of Companies (ERTC) since 2008 and has supported EURORDIS Membership Meetings, RareConnect, and the launching of the Rare Barometer Programme.

ActelionAward name: Company AwardsYear of the award: 2016

Established in 1997, Actelion focuses on the discovery, development and commercialization of innovative drugs for diseases with significant unmet medical needs. The Company has, in particular, made a difference for pulmonary arterial hypertension (PAH) in Europe and globally. Actelion’s pipeline reflects continued commitment to address unmet medical needs, including PAH as well as other rare disorders.

Actelion has engaged with and supported patient organisations since its founding. This has especially helped raise awareness and understanding of PAH, including the importance of psycho-social support in disease management. An Emerald member of the EURORDIS Round Table of Companies (ERTC), Actelion has supported several key EURORDIS initiatives, including: the EurordisCare survey, EURORDIS Membership Meetings, and the Black Pearl Evening, which helps make possible EURORDIS’ actions to end isolation of people living with a rare disease, empower leaders of the rare disease patient community, and raise awareness of all rare diseases.

France Télévisions – AFM-TéléthonAward name: Media AwardYear of the award: 2016

The EURORDIS Media Award recognises the long-standing support, for the past 30 years, of France Télévisions in broadcasting live the French Telethon organized in partnership with the AFM-Téléthon. Millions of people have taken part and donated to the AFM-Téléthon cause and thanks to this it has been possible to support research and create the Institute of Biotherapies for Rare Diseases, with laboratories such as the Myology Institute, Généthon, I-Stem et Atlantic Gene Therapies, all leaders in research and development of biotherapies for rare genetic diseases. Généthon, for example, stands out through its unique ability to develop, produce and test its own innovative genebased medicines for rare diseases, the creation of which has been made possible from the proceeds of the AFM-Téléthon. Moreover, thanks to the French Telethon, it has been possible to inform the general public about rare diseases, promote changes in the legal framework in France and in Europe and improve the daily life of patients.

Prof. Dr. Peter N. RobinsonAward name: Scientific AwardYear of the award: 2016

Professor Peter N. Robinson is a Professor for Medical Genomics at the Charité Universitätsmedizin Berlin in Germany, as well as Research Group leader at the Institute of Medical Genetics and Human Genetics of the Charité – Universitätsmedizin Berlin.

Amongst other activities, Peter has developed the Human Phenotype Ontology (HPO), as well as a number of algorithms for disease gene prediction and next-generation sequencing data. HPO is currently widely used in both research and clinical setting, and became a standard in describing human phenotypes, so contributing to make data interoperable and able to be shared for a better knowledge and recognition of rare diseases. His developments contribute also to correlate animal models and human diseases.

Peter’s team’s output in recent years has included the development of a novel treatment strategy for Marfan syndrome in mice based on antagonism of a class of bioactive motivs that are common in fragments of elastin and fibrillin-1, the identification of novel disease genes for a form of ataxia (CA8) and hyperphosphatasia with mental retardation syndrome (PIGV).

The EURORDIS scientific award recognises the major impact Peter Robinson’s work has for rare diseases. He has concentrated his diverse background and skills (he is mathematician, paediatrician, geneticist and bioinformatician) to improve the understanding and the diagnosis of inherited diseases.

He is a paradigmatic collaboration personality, sharing his vast and deep knowledge and achievements with other groups across the world, and allowing for the development of outstanding initiatives for the benefit of patient