Eurordis - Rare Disease Europe

UNIAMO is a non-governmental federation representing more than 200 rare disease patient associations across Italy. Founded in 1999, UNIAMO has been committed to improving the quality of life of the 2 million people living with a rare disease in Italy. They have also consistently advocated on a European level for the protection of the rights of the rare disease community, as the National Alliance for Italy on EURORDIS’ Council of Alliances. A fundamental part of UNIAMO’s work is their coordination of Rare Disease Day (RDD) in Italy and their powerful awareness campaigns that shine a spotlight every year on this special day. This year’s Media and Awareness Raising Award honours UNIAMO’s RDD 2024 campaign, #UNIAMOleforze, created in partnership with the FantaSanremo fantasy game, inspired by the Italian Song Festival.  

The campaign effectively engaged more young people and generated significant online participation, with 60,000 people joining the campaign’s dedicated ‘league’ and UNIAMO achieving 178 million impressions on FantaSanremo pages. Additionally, the campaign reached another seven million people through branding on electric buses in Rome, bus shelters in Bologna, and screens at Venice Airport, all featuring RDD colours and messages to show support for the rare disease cause and encourage public involvement. Perhaps most impressive was the 2024 Italian Song Festival’s 15 million viewers witnessing the host and eight artists showing their support for the rare disease community by making the community’s symbol with their hands on stage. The meticulous planning and execution of the #UNIAMOleforze campaign were exceptional, making it a well-deserved winner of this year’s award.

The Young Advocate Award is presented each year to an outstanding individual who actively contributes to raising awareness of key issues for people living with a rare disease at a local, national, or international level. This year, we would like to award Jane for his impressive involvement in several national and international initiatives promoting the rights of the rare disease community. We would also encourage him to continue his strong engagement as a young advocate for the rights of people living with a rare disease and of persons with disabilities. 

Jane is from North Macedonia and is an advocate, student and passionate football fan. Jane is also a wheelchair user who lives with spinal muscular atrophy (SMA). His participation in UNICEF disability campaigns and in the UEFA campaign for equality and access awareness has helped to raise awareness of the social barriers that people with disabilities, including those living with rare diseases, must often fight against. EURORDIS also commends his speeches at high-profile international events, like the United Nations General Assembly, and his TED talk on “The life-changing power of assistive technologies”. The millions of views that Jane’s TED talk has gathered are a testament to its empowering content, and his vision of a more accessible society aligns closely with EURORDIS’ values and hopes for the future. 

In 2023, we were fortunate enough to have Jane as a panel speaker at the Membership Meeting in Stockholm, where he gave voice to the important issues facing young people with rare diseases. Jane’s engagement with EURORDIS, SMA Europe and his national organisations like Stop SMA is paving the way for more young people to be heard and to actively participate in advocacy and awareness, to ensure that all people with rare diseases live their best lives. 

All of these impressive examples of Jane’s recent advocacy exemplify why he is a highly deserving recipient of this award. 

The EURORDIS Social Media Award celebrates advocates and influencers whose innovative and impactful content amplifies the voices of the rare disease community, raising awareness of the unique joys and challenges faced by those living with rare diseases. 

Yamina Hsaini is a French content creator who has lived with multiple diseases including gastroparesis, a rare condition affecting muscular contractions in the stomach, since 2014. Throughout her years-long odyssey for answers and treatment, Yamina has become a powerful voice on social media for her community. By sharing her daily life on different social media, including informative nutritional vlogs, and through the unflinching honesty in her videos from hospital, Yamina has shone a spotlight on the physical, emotional and medical challenges of living with a rare gastric condition. She has shown us that having a rare illness can mean years of suffering before receiving a diagnosis. Yet, through her daily fight, she has demonstrated the scope for achievement within her community.

The EURORDIS Policy Maker Award recognises an outstanding commitment to the rare disease community at a local, national and international level. This year, we wish to commend Stella Kyriakides’ dedication to the rare disease cause as the European Commissioner for Health and Food Safety (2019-2024), which has set her apart as a true advocate for our community. With this award we would also like to recognise her team, who have been an invaluable support throughout her mandate.
During her time as Commissioner, Stella Kyriakides’ attentiveness to the unmet needs of EU citizens with rare diseases, and her understanding of the value of policy action on an EU-level, led to several developments that truly benefit the rare disease community. 

Stella Kyriakides’ leadership was instrumental not only in the Europe’s Beating Cancer Plan and the creation of a new European Health Data Space, but also in the new European Pharmaceutical Strategy. This policy includes new legislative efforts focused on reforming rare disease and paediatric medicine regulations to boost innovation and improve timely access to treatments. She also made significant strides in addressing rare diseases by focusing on expanding the European Reference Networks (ERNs), a flagship EU initiative that is pivotal for patient care, with over 24 ERNs supporting diagnosis, treatment development, and data-sharing efforts for rare and complex diseases. Through the support of the Joint Action JARDIN, these networks will be better integrated into national healthcare systems, enhancing their sustainability and broadening their reach across member states. 

Stella Kyriakides’ emphasis on the importance of newborn screening as a way to attain the highest standard of care for those born with a rare disease has been invaluable in highlighting the need to reduce disparities in access to screening across the EU. 

Her dedication during and following the COVID-19 crisis to building a comprehensive health programme and budget is also truly commendable and essential in demonstrating the need for collaboration for EU healthcare. We are particularly grateful for her engagement in sustaining Operating Grants for civil society organisations in the field of health. This truly testifies to the value she holds for these organisations for patient groups, and for their roles in advancing health policy at the EU level. 

We are honoured to be able to count on Stella Kyriakides to continue her advocacy for the rare disease community post-mandate. 

The EURORDIS Company Award for Health Technology recognises companies developing solutions with a significant positive impact on the daily lives of people living with a rare disease. This year, we wish to commend the Norwegian company, No Isolation, for creating a technology that addresses the loneliness and anxiety of children whose serious, long-term illness keeps them from attending school. By connecting children to the classroom activities, No Isolation’s telepresence robot, ‘AV1’, ensures they benefit from the continued education and the friendships they need to build independent and fulfilling lives. 

We also acknowledge the significance of this groundbreaking technology through its presence in Europe across 17 countries, and its positive impact on the health and life outcomes of young patients, including those living with a rare disease. Recognising the potential of AV1 to bridge the gap in learning caused by severe illness and treatment constraints, we are encouraged by the remarkable opportunity that No Isolation offers to children with rare and complex conditions, by breaking down the barriers in access to education, support networks and social inclusion.

The EURORDIS Company Award for Patient Engagement recognises companies’ commitment to serving and empowering rare disease patients through meaningful collaboration. This year, we would like to recognise Ultragenyx and Mereo BioPharma as the most deserving recipients for this award. Both biopharmaceutical companies’ deep understanding of high unmet needs and attentiveness to patients as equal partners have led to the advancement of solutions for communities with barely any treatment options, including people living with osteogenesis imperfecta (OI). 

Driven from the start by the involvement of patients in the design of meaningful outcome measures and in raising awareness on the impact of the disease on daily lives, the collaboration of Ultragenyx and Mereo BioPharma has been paving the way for a potential first EU-authorised treatment for people affected by OI. EURORDIS commends both companies for recognising the urgency of bringing innovation to patients as early as possible and to meaningfully engage patients and all stakeholders to ensure the timely evaluation and global access of a transformative medicine.

This award is presented each year to leaders whose exceptional dedication and commitment have made a significant difference to the rare disease community. This year, we would like to recognise the outstanding impact that Dr Violeta Stoyanova-Beninska has made in advancing rare disease treatments, policy and partnerships both at a national and international level.  

Through her mandate as the Chair of the Committee for Orphan Medicinal Products (COMP) at the European Medicinal Agency (EMA), Dr Stoyanova-Beninska’s leadership was fundamental in influencing patient-centred rare disease health policy and legislation, thereby shaping orphan drug policies and enhancing patient involvement in regulatory activities. Elsewhere, on a global level, her roles as the Vice-Chair and recently elected Chair of the Regulatory Science Committee at the International Rare Diseases Research Consortium reflect her dedication to balancing scientific rigour with patient needs in the field of international rare disease policies.  

In the Netherlands, Dr Stoyanova-Beninska’s expertise in Rare 2030 has been crucial during her time as a Steering Committee member for the National Plan for Rare Diseases – NPZZ, as were her contributions as a former Netherlands representative of the EMA COMP. Furthermore, the leadership she brings to international scientific and advisory boards related to rare diseases, to the field of academia through her faculty memberships and supervision of Master’s and PhD students, and to our own Black Pearl Awards committee demonstrate why Dr Stoyanova-Beninska is an exemplary winner of this year’s award. 

The EURORDIS Members Award is presented each year to a EURORDIS member patient organisation which has demonstrated innovative methods in patient support or advocacy. This year, we would like to recognise the impressive scale and impact of the Latvian Alliance of Rare Diseases’ recent initiatives, as part of their national and international advocacy for more than 90,000 people living with rare diseases in Latvia.  

Founded in 2014, the Alliance is an independent non-governmental organisation with 17 member associations. These represent people in Latvia living with rare diseases such as spina bifida, Angelman syndrome, Fabry disease and hereditary angioedema. As part of their mission to empower Latvians with rare diseases to lead fulfilling lives, the Alliance has sought to improve rare disease health and welfare policy. Their implementation of Latvia’s third National Rare Disease Plan, together with a wide range of stakeholders, and its Monitoring Working Group are therefore initiatives that we highly commend. 

Additionally, we particularly wish to congratulate the Alliance for their establishment of the first Rare Disease Forum (RDF) in Latvia, which took place on Rare Disease Day (RDD) in 2024 as part of the RDD 2024 campaign “Colour your strength!”. The participation and viewership figures for the Forum are truly impressive, with more than 2,000 participants both onsite at Riga Stradins University and online, and with 40,000 views on national broadcasting.  

Furthermore, the preparation of proposals to the Health Ministry for the development of new initiatives as part of the Rare Disease Plan 2023-2025, as a result of the success of the RDF, demonstrates the tangible impact of the Alliance’s innovative work and advocacy, which is such an important aspect of this award.

The EURORDIS Volunteer Award is presented each year to an individual who has demonstrated an outstanding contribution to EURORDIS and the rare disease community on a voluntary basis. This year, we would like to recognise Dr Pauline Evers’ exceptional dedication to the rare disease cause on both a national and international level.  

Dr Evers is the former policy officer at Nederlandse Federatie van Kankerpatiëntenorganisaties (the Dutch Federation of Cancer Patient Organisations), and she specialises in the fields of medicinal products (with emphasis on HTA assessments), accessibility to innovative therapies, and cell- and gene therapy development. With this award, we particularly wish to commend Dr Evers for her active volunteering for EURORDIS over the last two decades, especially as a patient representative on the European Medicinal Agency’s Committee for Orphan Medicinal Products (EMA COMP) for more than 18 years.

What sets Dr Evers apart is the incredible show of support both for her and for her achievements from across the rare disease community. Not only did several of her colleagues at organisations such as the EMA COMP, VSOP, Zorginstituut Nederland and HEVAS, to name a few, nominate her for the 2025 Awards, but various members of staff at EURORDIS also championed her commitment to volunteering for our organisation as a patient voice representative at the COMP and the TAG. Such widespread support from within the rare disease community is key for this particular award, and highlights the sheer scale and impact of Dr Evers’ phenomenal contributions to the rare disease community. 

The EURORDIS Scientific Award is presented each year to a distinguished researcher whose career represents a rare combination of scientific excellence and support for the patient community. This year, we would like to recognise Professor Miikka Vikkula’s outstanding scientific research in the field of rare diseases, with a primary focus on vascular anomalies. His pioneering discoveries, extensive efforts in research and trial development, and involvement on an international level in working groups, conferences and symposiums have been truly impressive.

Professor Vikkula’s research has not only increased our knowledge of the inherited mutations that cause certain types of vascular anomalies, such as hereditary venous malformations, glomuvenous malformations and various forms of primary lymphoedema, but has also led to the identification of newly-identified diseases, such as CM-AVM 1 and 2. In addition, his research has led to the discovery that somatic genetic mutations are the cause of most vascular anomalies, such as those in TIE2 and PIK3CA which are responsible for venous malformations. Subsequent work on preclinical models led to the development of innovative therapies involving sirolimus, trametinib and thalidomide, as well as pioneering clinical trials such as the VASE trial.

His commitment to the rare disease cause extends beyond his scientific research to his array of international leadership roles as Chair of the VASCERN Vascular Anomalies Working Group, Chair of the Scientific Committee at International Vascular Anomalies Conference, and Vice President of the International Society for the Study of Vascular Anomalies (ISSVA). Furthermore, Professor Vikkula’s active organisation and participation in international conferences and symposiums, like those hosted by the ISSVA, highlight his dedication to raising awareness of vascular anomalies on a global scale. 

Each of Professor Vikkula’s achievements has translated into meaningful improvements for people living with rare vascular anomalies across the world, which we wish to honour and champion through this award.

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.

Proyecto Alpha is a Spanish non-profit association that represents and helps those living with muscular dystrophy due to Sarcoglycan deficiency, and their families. They are a reference association at national level, and they collaborate with the patient advisory committee at European level, as well as with global organisations worldwide. They also collaborate with Sant Joan de Deu hospital in Barcelona on the first natural history study of rare diseases in Spain.

Their extensive work includes their powerful documentary, Never Stop Moving and their song representing and giving visibility to those affected by a rare disease. 

The EURORDIS Media Award recognises media pieces raising awareness of rare diseases and bringing the needs of people living with a rare disease to a broader audience.

With this award, we want to celebrate the documentary’s compassionate depiction of the daily struggle of individuals living with muscular dystrophy and its message of hope and solidarity. Never Stop Moving not only highlights the resilience of Laura, Gerard, and Lucas by sharing their stories, fears, and triumphs but it also offers a unique and creative approach to raising awareness and demonstrates the importance of research in finding a cure.

Its impressive presence on social media platforms, coupled with its recognition in written and audiovisual press, underscores its success in making these diseases more visible. Never Stop Moving not only informs but also inspires its public, making it a highly deserving recipient of the EURORDIS Media Award 2024.

Check out the official trailer here: https://youtu.be/X-W_WAwlQsE