Eurordis - Rare Disease Europe

RareResourceNet was founded, in 2018, to establish a European network of rare disease resource centres. Its mission is to advance holistic, high-quality care and services for people living with rare diseases across Europe.

RareResourceNet’s vision of holistic care is one that addresses the multidimensional health, psychosocial, educational, and daily life needs and wishes of people with a rare disease and their family members. The resource centres who are members of the network are leaders in promoting a person-centred and multidisciplinary approach to care and support.

The EURORDIS Holistic Care Award recognizes this vital role RareResourceNet and its member resource centres play in accelerating the implementation of holistic care across Europe. Their commitment to ensuring that people living with rare diseases and their families attain the highest standard of health and wellbeing, and gain equal opportunities, rights, and full participation in society is truly commendable.

With this award, we want to praise the longstanding achievements of its member resource centres in elevating care standards and in empowering service providers, professionals, people  with rare diseases, and their families. Furthermore, we want to recognize and support their vision and mission as a network.

We believe that RareResourceNet can greatly contribute to creating positive change and be a strong advocate, working alongside our members and others in the rare disease community, to support the development of policies and services which truly support people with rare diseases and their families to live their best and fullest lives. 

Acknowledging meaningful and impactful collaboration, the 2024 EURORDIS Company Award for Patient Engagement recognises Pierre Fabre and the EspeRare Foundation’s commitment to serving and empowering rare disease patients.

Through building mutual trust with affected families and engaging patients as equal partners in helping to further disease knowledge and shape each step of the clinical development programme, Pierre Fabre and the EspeRare Foundation are advancing the potential to address, in-utero, a rare genetic disease. 

EURORDIS commends both partners for co-developing the first and only prenatal treatment for X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) through a patient-focused approach. This achievement has garnered regulatory support in both Europe and the United States, and holds promise for life-changing outcomes for an underserved community.

The EURORDIS Company Award for Health Technology recognises the Poznan Supercomputing and Networking Center on their inspiring journey developing technologies with significant positive impact on the daily lives of people living with a rare disease.

EURORDIS commends the Poznan Supercomputing and Networking Center for coordinating the INSENSION project, an innovative research-led initiative advancing a technology that supports people with profound and multiple learning disabilities, and whose only way of communication is pre-symbolic, in their interactions with their living environment to enrich their lives.

Drawing on the expertise and collaboration of computer scientists, and special education and care professionals from across Europe, the assistive technology platform developed within the INSENSION project empowers severely disabled people to communicate with their carers in a non-verbal way – an opportunity previously unavailable to them.

Recognising the unmet needs of people living with neurodevelopmental impairment, this pioneering solution has not only contributed to stimulating further research internationally, it also resonates with EURORDIS’ vision to leave no one behind.

Adéla Odrihocká is an incredible translator and interpreter specialising in healthcare, medicine, and pharmaceuticals. Her passion for patient advocacy started during university, where she organised workshops on rare diseases and disabilities. Adéla’s expertise has led her to be a panellist and speaker at European rare disease conferences, focusing on gender biases in healthcare, rare disease policies, workplace inclusion, and the social aspects of living with a rare disease and disability.

With this award, we would like to acknowledge Adéla’s outstanding involvement in several national and international projects for the rare disease community, including numerous EURORDIS initiatives, over the past years.

Adéla is actively involved in ČAVO (Rare Diseases Czech Republic) and co-chairs a patient organisation for Ehlers-Danlos syndromes. She works as a consulting specialist and patient organisation representative in a project for comprehensive shared health and social care for individuals with rare diseases at the Ministry of Health of the Czech Republic. Additionally, she is involved in a group for Patient Rights within the Patient Council. She is also part of the SPAG (the Eurordis Social Policy Action Group) and co-chairs the 12th European Conference on Rare Diseases and Orphan Products Programme Committee. In her workplace, Adéla co-leads an Employee resource group for disability inclusion.

Her leadership in conducting educational initiatives for healthcare professionals and a diverse range of audiences showcases her devotion to improving the understanding of chronic diseases. Her participation in initiatives like the One World International Human Rights Documentary Film Festival further demonstrates her commitment to addressing social challenges associated with invisible disabilities.

By sharing her own diagnosis odyssey story on national television, she has undoubtedly inspired and supported many individuals facing similar challenges, further proving her commitment to the Rare Disease community.

The EURORDIS Young Patient Advocate Award acknowledges Adrian Goretzki’s unwavering dedication to the rare disease community over the past years. Adrian is a lawyer & patient advocate, former leader of the Polish Association for Patients with Primary Immunodeficiencies ‘Immunoprotect’ and member of the executive board of the international umbrella association, the International Patient Organization for Primary Immunodeficiencies (IPOPI). Since 2017, Adrian has also been leading the Healthcare Education Institute, a foundation providing care and therapy for people with rare diseases in Europe, educating patient advocacy groups and healthcare professionals.

Among Adrian’s achievements, EURORDIS wishes to particularly recognise his successful campaign for SCIG home therapy reimbursement for adults with primary immunodeficiencies, his advocacy for patients with rare immunodeficiencies, as well as his commendable work in support of the Ukrainian rare disease community, offering patients both legal and practical assistance.

An Interview with Adrian Goretzki

The EURORDIS Members’ Award celebrates Orphan Diseases of Ukraine for their impressive work over the past 10 years. With this award, EURORDIS would like to highlight the Alliance’s work towards ensuring the recognition of Rare Diseases in national policy-making since 2014, in order to provide treatment and often life-saving services to patients, including the introduction of the 2014 Ukrainian Law on Rare Diseases, and the work towards the 2021 National Strategy and Action Plan in Ukraine.

Since the break out of the full-scale war in Ukraine, the Alliance has coordinated vital donations of medication and humanitarian aid. Despite the challenges posed by war, Orphan Diseases of Ukraine continues to work on achieving their strategic priorities for rare diseases within their nation, working closely with the Ministry of Health and international partners, demonstrating an unwavering commitment to the Ukrainian Rare Disease community.

An Interview with Orphan Diseases of Ukraine

The EURORDIS Media Award recognises the film “Red Sandra” for its compassionate and moving depiction of a Belgian family’s experience with their daughter’s diagnosis with Metachromatic leukodystrophy (MLD), a rare muscular disease. Created in 2021, the film recounts Sandra’s parents’ subsequent battle to secure treatment for their daughter.

EURORDIS wishes to celebrate the film’s ability to bring the Rare Diseases cause to a wider audience and demonstrate the realities of rare disease diagnosis, with many individuals and families facing geographical and economic obstacles to treatment.

The film offers hope, solidarity and a valuable insight to all those living with or caring for someone living with a rare disease, particularly those struggling to access funding for treatment.

The EURORDIS Scientific Award 2023 goes to Dr Luisa-María Botella Cubells for an incredible twenty years of research into Rare Diseases, and potential treatments, most specifically, her successful work towards the development of four drugs for the treatment of Hereditary Hemorrhagic Telangiectasia and Von Hippel-Lindau Syndrome. EURORDIS would like to recognise the enormous impact that Dr Botella’s research has had on many patients’ lives.

Dr Botella has worked towards, advised for, and led numerous research projects into Rare Diseases. She was among the first members who founded the Spanish Hereditary Hemorrhagic Telangiectasia Patient Association and has been a member of their advisory board since 2005. Further to this, Dr Botella has been an active collaborator of FEDER since 2012, has led the expert Rare Disease Lab Consortium CIBERER, been a VASCERN HHT ePag since 2016, and has published over 60 papers on diagnosis, molecular basis, and therapeutic approaches. EURORDIS wishes to celebrate Dr Botella’s work to centralise her patients’ voices and input into her research, highlighting their crucial importance.

An Interview with Dr Luisa-María Botella Cubells

The EURORDIS Leadership Award 2023 goes to Dr Holm Graessner for his lifelong dedication to the rare disease community and the coordination of countless projects at a national, European and international level.

Dr Graessner has been working in rare diseases since 2003, as the Project Manager for EUROSCA, and has since been the founder and managing director of the first Rare Disease Centre in Germany.

By collaborating with the German National Rare Disease Patient Organisation ACHSE, he organised the first national Rare Disease Conferences in 2019 and 2021. Since 2018, Dr Graessner has coordinated the ERN-based Solve-RD and secured fundings for projects such as NeurOmics. More recently, through leading positions in the ‘1 Mutation 1 Medicine’ initiative and the Ataxia Global Initiative, Dr. Graessner’s focus has increasingly turned to trial readiness and therapy development platforms for patients with rare and ultra rare diseases.

This award also recognises Dr Graessner’s leadership as ERN RDN Coordinator and his continuous support to progress towards the integration of ERNs into national health systems.

An Interview with Dr Holm Graessner

The EURORDIS Policy Maker Award goes to Dr Stelios Kympouropoulos for his dedication to creating positive legislative change for people living with a rare disease. This has been achieved through his current work as an MEP, and as a long-term advocate of the rare disease community.

Dr Kympouropoulos, who’s living with Spinal Muscular Atrophy himself, is a Greek psychiatrist and politician who was elected to the European Parliament in 2019. In his role as an MEP, Dr Kympouropoulos’s has been actively engaged in discussions to introduce a unified strategy for Rare Diseases across Europe.

Dr Kympouropoulos played an instrumental role in ensuring the inclusion of people living with a rare disease in the Resolution on a common European Action on Care in 2022 and has been a strong supporter of the importance of newborn screening in relation to rare diseases. Most recently, Dr Kympouropoulos has also advocated for the Rare Disease community affected by the invasion in Ukraine.

Dr Kympouropoulos is also a Co-Chair of the Network of Parliamentary Advocates for Rare Diseases, which further highlights his unwavering dedication to the community.

The EURORDIS Company Award for Patient Engagement recognises Amryt Pharma’s commitment to serving and empowering rare disease patients through meaningful collaboration.

EURORDIS commends in particular the company’s patient-focused approach to designing and conducting a trial that ultimately led this year, to the approval in Europe and the UK of the first and only treatment for severe forms of epidermolysis bullosa (EB).

By listening to the needs and daily experiences of young patients and establishing constructive relationships with the EB community to identify common challenges of care, Amryt Pharma brings attention to the value of patient perspectives in helping to shape a trial protocol that makes all the difference. Whilst Amryt Pharma’s diligent engagement has enabled patients to be part of the solution, it has also paved the way for longer-term collaboration that will support further research into potentially life-changing new therapies.

The EURORDIS Company Award for Innovation recognises PTC Therapeutics as a company undertaking groundbreaking activities to advance rare disease research and medicines development. A company with a 25-year legacy in discovering and delivering novel therapies that address the underlying genetic cause of a disease, PTC Therapeutics has grown to become a path finder for patient communities with barely any existing treatment options.

Through cutting-edge technology and meaningful collaborations across the rare disease community, PTC Therapeutics has brought transformative treatments to patients living with duchenne muscular dystrophy and discovered a landmark treatment for spinal muscular atrophy.

More recently, PTC Therapeutics pioneered the first and only approved disease-modifying treatment for AADC deficiency in Europe and first marketed gene therapy directly infused into the brain. EURORDIS commends this breakthrough as well as the company’s continued research commitment to underserved disease areas.