Eurordis - Rare Disease Europe

The EURORDIS European Rare Disease Leadership Award 2022 is awarded to Dr Anne-Sophie Lapointe for the outstanding leadership and dedication shown to the rare disease community and the positive impact she has made in advancing rare disease policy and partnerships both at a national and international level. Dr Lapointe’s involvement in the rare disease field started in 1998 as a caregiver of two boys living with a rare disease. She then served as President for the French Lysosomal diseases association, Vaincre les Maladies Lysosomales, and as a board member at EURORDIS and the French national rare diseases alliance for 6 years.
Dr Lapointe holds a PhD in bioethics and she has worked for several years with geneticists at Necker Hospital and the ERN ITHACA with the French rare diseases network AnDDI-Rares. She developed an expertise in the genomic area, collaborating with human and social research teams around programmes linked to incidental findings and patient consent. She was also involved as a board member in the Inserm Ethics Committee (IEC) with a constant dialogue between the scientific and medical research community and society. In 2016, alongside Ana Rath from Orphanet, she drafted the third national plan for rare diseases. Her domain was “information, training and e-health”. The third plan, launched the 4th of July 2018, is the result of the concerted efforts of all the stakeholders committed to promoting an ambitious health and research policy designed to help patients with rare diseases and their families. In October 2018, she joined the French Ministry of Health as project manager of the rare diseases mission and with her team she works closely with the Ministry of Research to undertake the third national plan with its 55 actions. This award celebrates her determination and engagement, as well as her active involvement in advocating for rare diseases.

The Scientific Award is awarded to Prof. Franz Schaefer for his scientific excellence, outstanding dedication to the rare disease community and the positive impact he has made in rare disease research and patient communities on an international level. Prof. Schaefer is Professor of Pediatrics and Chief of the Pediatric Nephrology Division at Heidelberg University Hospital. He received his M.D. in 1986 at Würzburg University Medical School. He performed research scholarships at the Institute of Child Health, London, the University of Virginia and Stanford University and he has also served on the boards and councils of numerous medical societies. He is the current President-Elect of the International Pediatric Nephrology Association. Prof. Schaefer has a special interest in rare kidney disease research. In 2009 he established the eRare-funded PodoNet Project for Research in hereditary and immune mediated steroid resistant nephrotic syndrome. The PodoNet Registry has become the world’s largest database for this group of rare glomerulopathies and has led to the identification of new genetic disease entities and prognostic biomarkers. Since 2021 Prof. Schaefer has contributed his expertise in clinical data management by contributing to the development of a rare disease data ecosystem as Pillar co-lead in the European Joint Programme for Rare Diseases (EJP RD) and since 2021 by leading the data integration workpackage of ERICA, the ERNs’ research coordination programme. Prof. Schaefer’s publication record encompasses 650 scientific articles and book chapters. We would like to acknowledge his leadership and outstanding work in the ERN Coordinators Group and in several of the cross-ERNs Working Groups, as well as his prominent role in rare disease Registries and his innovative approach in the use of health outcome measures to drive improvements in care and his work within the European Joint Programme on Rare Diseases. It is thanks to his scientific leadership, research and collaborative spirit that key achievements have been made in the field of rare kidney diseases, paediatric nephrology and hypertension. His dedication, engagement, collaboration with scientists, clinicians and patients cannot be overstated, and we believe him to be a truly deserving recipient of this award.

Danielle Drachmann founded Ketotic Hypoglycemia International (KHI) – the world’s largest patient organisation for patients with idiopathic (unexplained) ketotic hypoglycemia – after failing to get a diagnosis, despite extensive clinical and genetic investigations, on her two children’s dangerously low blood glucose (sugar) and high ketone levels. This international patient association works in close collaboration with leading medical experts from all over the world and has initiated patient-driven research projects later disseminated in scientific publications. The organisation is also very active on its social media platforms, where it strives to unite the families in an online community, so they can support, guide and help each other navigate the life living in a ketotic hypoglycemia rollercoaster. Drachmann also recently entered the European Health Parliament and the European Medicines Agency as a Patient Representative for patients with rare hypoglycemia diseases. She is working at the Center for Research with Patients and Relatives at Odense University Hospital, Denmark, while also sitting in the Research Committee at H.C Andersen’s Children’s Hospital, Odense University Hospital, Denmark, as a patient and relative representative. Danielle’s outstanding resilience in the face of the medical mystery, idiopathic ketotic hypoglycemia (IKH), combined with her perseverance in initiating patient-driven research with leading medical experts from different fields of medicine, has been an extraordinary example of how we envision the future of rare disease research: Passionate, patient-driven and co-created.

Milica (Serbia) is the mother of a little hero and an amazing girl called Noa. Noa was born prematurely at 26 weeks, weighing only 700g. Due to the complications after her birth, she had 3 brain bleeds, and they developed into an extreme Hydrocephalus that left 80% of her brain damaged. Up to now, Noa has had 18 brain surgeries, and she had some other diagnoses due to hydrocephalus, like severe epilepsy and cerebral palsy, and about 10 more diagnoses. But Noa never let her rare condition dictate her life. She is now 9 years old, almost walking, she still has to learn to talk but she knows gestures and understands a lot now, even though the diagnoses meant she had a chance of survival of less than 1%, she is making more out of her 1% than most would have thought possible. Through social media (mainly Instagram) Milica tries to educate and bring people closer to the life of a child with special needs. There is no room for negativity on their social media: you can only find beautiful and inspirational things like therapies, cute stories and Noa’s everyday life. Noa’s story provides a source of inspiration for anyone reading it via Milica who’s “just her voice until she finds her own and continues to inspire with her own words”.
Learn more about Milica and Noa here

The EURORDIS Media Award is awarded to the EwenLife on-demand video platform for offering all people living with a rare disease and their families free and accessible online tools to break through the sense of isolation frequently going hand in hand with rare diseases. The platform hosts videos where patients, parents and caregivers talk about how rare diseases affect their everyday life – and share some personal tips or advice. What is also noteworthy about the project is the abundant sense of optimism which is prevalent in the interviews, seminars/web series and filmed testimonies which the platform hosts. The award also recognises the needs of people living with a rare disease and brings them to the attention of a large audience as well as simultaneously forging bonds of solidarity among the rare disease community.

The EURORDIS Company Award for Patient Engagement recognises the collaborative effort of the companies involved in the European Alliance for Newborn Screening in SMA to ensure that newborn screening programmes in all European countries diagnose all newborn children with SMA. This close collaboration reinforces the demand of the rare disease community for a harmonized approach to newborn screening in Europe.
The achievements of the Alliance, which is succeeding in creating much-needed awareness and momentum towards an accelerated implementation of newborn screening for SMA in an ever-growing number of European countries, merits acknowledgement. The Award also recognises how the Alliance has set a model example which has the potential to encourage similar initiatives across other rare diseases. EURORDIS truly appreciates the companies’ mutual engagement with patient advocates and multiple stakeholders around a single cause, which further reflects their commitment for and solidarity with the rare disease community.

The EURORDIS Company Award for Health Technology recognises companies developing technologies with significant positive impact on the daily lives of people living with a rare disease. EURORDIS commends Aparito as a company at the forefront of innovative technologies that report patient experiences accurately. By placing patient needs at the heart of the solution, Aparito’s expertise facilitates medicines development and contributes to addressing complex regulatory challenges. Aparito’s collaborative approach, working across rare diseases and alongside patient organisations, clinicians as well as sponsors, also deserves recognition. With the ever-increasing pace of developments in science and technology, Aparito’s remarkable journey in the field of remote patient monitoring is testament to the potential of digital solutions to profoundly impact the delivery of healthcare for people living with a rare disease.

The EURORDIS Company Award for Innovation acknowledges companies undertaking ground-breaking activities to advance rare disease research and medicines development. EURORDIS recognises Lysogene as a pioneering gene therapy company which has established itself among major players driving European-led innovation, in just over ten years. We are particularly encouraged by Lysogene’s promising advances towards delivering novel treatments in neuro degenerative and neuro developmental disease areas with high unmet medical needs. Lysogene’s continued readiness to advocate for early diagnosis and engage patients and caretakers as equal decision makers in the product development lifecycle also merits acknowledgement. The award also celebrates the remarkable personal journey of the company founder, Karen Pignet-Aiach, as a mother, patient advocate and entrepreneur determined to change the landscape for severe rare diseases affecting children’s central nervous systems

The EURORDIS Members Award is awarded to Childhood Cancer International Europe (CCI-E), the largest umbrella-organisation for childhood cancer in Europe, counting 67 patient-organisations in 34 countries. The Award celebrates the organisation’s outstanding advocacy of childhood cancers on a national and international level, as well as their active commitment to fulfilling their role as patient advocates in the European Reference Network for Paediatric Cancer and several other EU projects such as Harmony, PanCare and Accelerate. Thanks to the work of CCI-E and their collaborations with local and international partners they have enhanced the ability of many medical professionals and health workers to recognise the early signs of childhood cancer enabling them to make accurate and early diagnoses. This award recognises that CCI-E is at the forefront of the establishment of an ‘EU network of youth cancer survivors ‘, as outlined in the Europe’s Beating Cancer Plan. CCI-E has also been extremely supportive of EURORDIS, notably in relations to the BECA report, and stands shoulder to shoulder with the rare adult cancer patients’ community.

The EURORDIS Volunteer Award 2022 goes to Graham Slater, one of the first survivors of Esophageal Atresia (EA), for his outstanding contributions and dedication to the rare disease community and to EURORDIS. The Award acknowledges Graham’s incredible commitment to rare diseases and his work as Board Member of TOFS (UK EA support group), Chair of the Esophageal Atresia Global Support Group (EAT), partner of the UK National Health Service’s Clinical Reference Group for specialised surgery in children, as well as lead ePAG at the European Reference Network for rare Inherited and Congenital (digestive and gastrointestinal) Anomalies (ERN ERNICA). The award also recognises Graham’s involvement in different EURORDIS working groups, long commitment to international collaboration in the rare disease domain and his leadership to ensure that all rare disease patients, regardless of where they live, can benefit from the sharing of good practices and the development of new surgical techniques and improved life-long after-care.

The EURORDIS Lifetime Achievement Award goes to Dr William Gahl for the lifelong dedication he has shown in addressing the needs of people living with rare and undiagnosed diseases. Dr William Gahl graduated from the Massachusetts Institute of Technology and earned his M.D. and Ph.D. from the University of Wisconsin. He served as paediatric resident and chief resident at the University of Wisconsin hospitals and completed clinical genetics and clinical biochemical genetics fellowships at the NIH. Dr Gahl elucidated the basic defects in cystinosis and Salla disease and helped bring cysteamine to new drug approval by the Food and Drug Administration as the treatment for cystinosis. He has published over 530 peer-reviewed papers, trained 42 biochemical geneticists and cultivated international experts for dozens of rare diseases, syndromes and disorders. In 2008, he established the NIH Undiagnosed Diseases Program (UDP), which has made more than 300 rare disease diagnoses and discovered 30 new genetic diseases. Dr Gahl expanded the UDP to a national Undiagnosed Diseases Network and a worldwide Undiagnosed Diseases Network International. He established the American Board of Medical Specialties certification for medical biochemical genetics. Dr Gahl received the Dr Nathan Davis Award for Outstanding Government Service from the AMA, the Service to America Medal in Science and the Environment, and numerous other awards. In 2019, he was elected to the National Academy of Medicine. With this award, we would like to acknowledge the key role Dr Gahl has played in the creation of the National Institutes of Health (NIH) Undiagnosed Diseases Network (UDN) and its essential role in discovering many new genetic disorders. His unwavering support of the rare and undiagnosed disease cause and his patient-centred approach is demonstrated by the leadership role he played in the development of the International Network on Undiagnosed Diseases (UDNI). This notable achievement is bolstered by the work being done by the UDNI which he spearheaded as the Chair; the programme provides an admirable example of an international institution which brings together the undiagnosed community at the global level. UDNI has provided a structure and forum to exchange on undiagnosed cases for clinicians working around the globe. The importance of all his efforts in the field of rare disease research cannot be overstated, and we believe him to be a truly deserving recipient of this award.

Enrique Terol MD, specialized in Family and Community Medicine, MSc and PhD in Public Health. His professional experience in Spain includes the clinical practice as specialist in Family and Community Medicine, implementation of programmes of public health, managerial positions as CEO or Medical Director of Primary and Specialised Healthcare institutions and healthcare systems planning, organisation and evaluation.
Enrique Terol works as Policy Officer in DG SANTE unit B3 of the European Commission and is in charge of the implementation of the European Reference Networks (ERNs) under the framework of the Directive of Cross-border Health care since 2011. He was Deputy General Director of Quality and Health Planning of the Ministry of Health of Spain between 2004 and 2008 and was in charge of the development of the Spanish Strategies on Rare Diseases, Cancer, Diabetes, Mental Health and Patient Safety. He was also involved in the design and implementation of the Spanish System of Centres of Reference for rare and complex diseases.