Eurordis - Rare Disease Europe

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

The 2024 EURORDIS Company Award for Innovation recognises Sanofi’s commitment to advancing rare disease research and medicines development. Building on a 40-year legacy in rare diseases, Sanofi has constantly been discovering, developing and delivering medicines that translate into clinical benefit and positive impact for patients’ lives. Pioneering the first-ever medicines for five rare disorders, the company has continued to explore novel biological pathways and disruptive technology platforms to advance solutions spanning multiple disease areas. Forging meaningful collaborations driven by patient insights and multidisciplinary expertise, Sanofi’s commitment to improving access to diagnosis, treatment and care extends across over a hundred countries, ensuring innovation is brought to underserved communities. EURORDIS commends Sanofi’s journey alongside people living with a rare disease, striving to help them achieve a fulfilling future.

José-Alain Sahel, M.D., is a distinguished professor, chairman of the Department of Ophthalmology, and The Eye and Ear Foundation Endowed Chair at the University of Pittsburgh School of Medicine, and an adjunct professor of Robotics and Bioengineering at Carnegie Mellon University, Pittsburgh. He is an emeritus professor of Ophthalmology at Sorbonne Université and was the founding director of The Vision Institute (Sorbonne Université, Inserm, CNRS) Paris, France (till 31 December 2020).  

Trained at Paris University Medical School, Louis Pasteur University in Strasbourg, and Harvard University, Dr. Sahel is a clinician-scientist conducting research on vision restoration focusing on cellular and molecular mechanisms underlying retinal degeneration and development of treatments for currently untreatable retinal diseases.  

As the founder of the Vision Institute in Paris and the new Vision Institute in Pittsburgh, Dr. Sahel has conducted and overseen more than 80 clinical trials on retinal conditions, some of them within the most advanced areas of biomedical technologies (first in human trials in retinal implants, gene therapy, stem cell therapy, optogenetics).

With over 700 peer-reviewed articles and 40 patents, he is a prolific researcher and has co-founded companies developing innovative vision restoration therapies. His esteemed memberships include the Académie des Sciences-Institut de France, the Académie des Technologies, the Association of American Physicians, the American Ophthalmology Society,  the German National Academy of Sciences Leopoldina and the National Academy of Inventors.

The EURORDIS Scientific Award recognizes Dr. Sahel’s excellence in scientific research in the field of rare diseases, with a primary focus on retinal diseases and inherited retinal degenerations. His pioneering efforts in research and his relentless pursuit of understanding the genetic and molecular foundations of these conditions have been truly outstanding.

Moreover, his collaboration with international organisations and institutions has played a pivotal role in advancing the diagnosis and treatment of rare eye diseases. His dedication has translated into meaningful improvements in the lives of patients worldwide, and for this, we would like to honour his ground-breaking achievements.

DEBRA International is the international alliance of DEBRA and other epidermolysis bullosa (EB) advocacy groups working on behalf of people with EB, a group of rare, chronic, and debilitating genetic skin disorders. DEBRA International envisions a world where anyone with EB has support from a DEBRA group, and access to specialist treatments, healthcare, and social support. DEBRA has grown exponentially over the past 50 years with the establishment of nearly 50 national DEBRA and other EB advocacy groups around the world, all working towards improving the lives of those living with EB in their respective countries. DEBRA also acts at an international rather than national level to reduce duplication of efforts, avoid wastage of resources, and help achieve objectives faster.

In recent years, despite facing various legal and logistical challenges, under the exceptional leadership of Dr. Ritu Jain, DEBRA International provided much-needed support for members of the rare disease community affected by conflicts and natural disasters, particularly in Ukraine, Turkey, and Syria in 2022-2023. Through swift community mobilisation and strategic alliances, including a significant collaboration with the Singapore Red Cross, they provided vital assistance to patients and their families in crisis zones.

The organisation efficiently distributed humanitarian aid to patients and hospitals along the Polish-Ukraine border. Their assistance to 120 Ukrainians living with severe epidermolysis bullosa (EB) and commitment to aiding individuals with Duchenne muscular dystrophy and familial Mediterranean fever in disaster-affected regions in Turkey and Syria, is remarkable.

DEBRA International’s relentless commitment to people living with rare diseases during crises has significantly raised awareness about rare diseases in the realm of humanitarian aid. We believe that their collaborative approach and unwavering dedication to supporting rare disease patients in extreme adversity make them highly deserving of the Black Pearl Members Award.

Alba Parejo is a Spanish content creator who was diagnosed with Giant Congenital Melanocytic Nevus (GCMN). This rare condition means that she was born with a giant spot from her back to her knees and more than 1 thousand moles around her body.

Having a GCMN means that she can develop skin cancer and neurocutaneous melanosis, that is why she has had more than 30 medical interventions to remove the big mole. Currently, she is a content creator who raises awareness about self-love, empowering patients and her rare condition through her social media, her book called “From my skin: how I learned to love my constellations” and as a speaker in different conferences.

Her motto is: “All the animals have prints; but humans are the only ones who are born as a blank canvas. I am proud of having my own different animal print.”

Learn more: https://www.tiktok.com/@albaparejo

Alain Coheur has had an impressive career. Since 2002, he has served as the Director of European and International Affairs at Solidaris Mutualité in Belgium. Over the years, he has held notable positions such as President of Social Economy Europe and Vice-President of the Belgian Agency for Development Cooperation. He has also been actively involved in various organisations, including the European Commission Expert Group on Social Entrepreneurship and the European Economic and Social Committee (EESC). Notably, he served as Chairman of the Internal Market, Producer, and Consumer Commission between 2020 and 2023, and is now Vice President. His contributions extend beyond his professional roles, as he is also a Lecturer at the University of Liège, Faculty of Medicine, School of Public Health since 2022.

The EURORDIS Policy Maker Award recognises Alain Coheur’s dedication as a Member of the European Economic and Social Committee, which has set him apart as a true advocate for the rare disease community.

His notable contribution as rapporteur to the EESC Own Initiative Opinion is particularly praiseworthy. The report resulting from this effort is exceptional, providing a comprehensive and insightful overview of the rare disease ecosystem. Alain Coheur’s call for a new European strategy for rare diseases, aligning with Rare 2030 recommendations, the 2021 UN GA Resolution, and the EU Council Presidencies leadership, underscores his visionary leadership in advocating for those with rare diseases.

One of the most remarkable aspects of his work is the innovative proposal for a European Solidarity Fund for rare and complex diseases presented at the 2023 Bilbao Conference on Rare Diseases (RDs) and European Reference Networks (ERNs), which garnered enthusiastic support. His passionate advocacy for mutualisation at the European level to ensure innovative treatments for rare disease patients cannot be understated. 

Silvia Aguilera is currently the Vice President of the Spanish Antiphospholipid Syndrome Association (SAF España) where she has volunteered in roles such as social media and international relations manager since 2015. She is also a patient representative for her disease in the European Reference Network for connective tissue and musculoskeletal diseases (ReCONNET) and since June 2023, she is a member in the patient PARE committee for the European Alliance of Associations for Rheumatology (EULAR). 

She is also part of several patient and medical work and study groups, like the EULAR Study Group on Reproductive Health and Family Planning, and the Patient Advisory Network in Lupus Europe. Silvia has been an active volunteer in several EURORDIS working groups, on topics like communicating with European patients or the changes in Assessment, Monitoring, Evaluation and Quality Improvement System (AMEQUIS).

The EURORDIS Volunteer Award recognizes this extensive dedication Silvia has shown to the rare disease community.

What sets her apart is her extraordinary teamwork spirit and pragmatic approach. She stands as an exceptional leader and dedicated volunteer, carrying out her work with immense passion. Beyond her voluntary work in ReCONNET ERN, her impact within different ePAG working groups has been substantial, and her collaboration on matters of common interest makes her one of the main voices in shaping a healthy and effective patient partnership in the European Reference Networks. Moreover, in 2022, her proactive approach in initiating collaboration between the Spanish National Alliance and ePAG advocates at the national level demonstrates her unwavering commitment to driving positive change.

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