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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 2025 Black Pearl Awardees will be announced on this page every week leading up to the ceremony, so stay tuned!

For the Social Media Award, however, the power is in your hands. Learn more about our amazing Social Media Award finalists and cast your vote! Voting will close on the night of the ceremony itself.

Learn more about the Award Categories.


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Dr Luisa-María Botella CubellsAward name: Scientific AwardYear of the award: 2023

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

Dr Holm GraessnerAward name: Leadership AwardYear of the award: 2023

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

Dr Stelios KympouropoulosAward name: Policy Maker AwardYear of the award: 2023

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.

Amryt PharmaAward name: Company Award for Patient EngagementYear of the award: 2023

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.

PTC TherapeuticsAward name: Company Award for InnovationYear of the award: 2023

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.

MendelianAward name: Company Award for Health TechnologyYear of the award: 2023

The EURORDIS Company Award for Health Technology recognises Mendelian’s clinician-led approach to deploy a technology that detects rare and hard to diagnose diseases within primary care settings.

By informing doctors about appropriate care pathways and providing disease-specific insights, Mendelian’s digital tool contributes to advancing rare disease knowledge and awareness, whilst reducing barriers to timely diagnosis.

As the digital transformation of healthcare systems keeps evolving, Mendelian’s solution is testament to the potential of new technologies to bring more patients to medical attention faster. Mendelian’s approach resonates particularly well with EURORDIS’ advocacy for an equitable access to diagnosis and healthcare for people living with a rare disease, whether diagnosed or not.

Terkel AndersenAward name: Lifetime Achievement AwardYear of the award: 2023

The EURORDIS Lifetime Achievement Award goes to Terkel Andersen, a longstanding pioneer and leader in the rare disease community with broad experience in disability and health issues. Terkel served as member of the EURORDIS Board of Directors since 1997, when the organisation was founded, and as President of EURORDIS from 2003 until last year. He first became involved in the rare disease field back in 1983 when he joined a Nordic project on the mapping of problems related to rare diseases.
He served as president of the Danish Haemophilia Society from 1985 to 2017. During that time he was also a prominent AIDS advocate. He was one of the founders of the Danish Alliance of Rare Disorders in 1986 and worked as the first Executive Director of the Centre for Rare Diseases and Disabilities of the Ministry of Social Affairs in Denmark from 1990 to 2001 – a unique centre of its kind at that time. From 1992 to 2002, he served on the executive board of the World Federation of Hemophilia; and from 1993 to 1999, he was chairman of the European Haemophilia Consortium.
In his professional capacity Terkel worked with the Danish National Council for Volunteering until October 2018 promoting volunteer work across all areas of society.

Nicole FaccioAward name: Social Media AwardYear of the award: 2023

The EURORDIS Social Media Award recognises the outstanding contributions and dedication Nicole Faccio, known on social media as Facciolita, has shown to the rare disease community through her social media account. Nicole Faccio was born in Puerto Rico and currently resides in London. She was born with WILD syndrome, a rare genetic disorder that causes lymphatic malformations, resulting in chronic swelling, known as Lymphedema. Therefore, Nicole experiences chronic swelling everywhere in her body, including organs, and a collapsed lung due to lymphatic fluid build-up, for which there is no cure. To manage, Nicole needs to wear compression garments and do compression therapy daily, for life.
Lymphedema is a very unknown, underrepresented condition with a huge problem of misinformation globally, often leaving sufferers helpless and misdiagnosed. Interestingly, it is estimated to affect 250 million people worldwide. Nicole hopes she can bring about change by educating the public and medical community, but also by providing a positive face towards Lymphedema to help patients struggling with this very isolating condition.
Nicole has a Bachelor’s degree in Engineering and a 10-year career in Digital Products Strategy.

Michela OnaliAward name: Volunteer AwardYear of the award: 2023

The EURORDIS Volunteer Awards commends the incredible work that Michela Onali has done for the Rare Disease community, more specifically, those living with ultra-rare diseases.

Following her own diagnosis with GNE myopathy, Michela has focused her advocacy work on research and drug development for rare diseases for which there is limited information. Michela has worked towards overcoming this challenge by building a pre-clinical research proposal and consortium (funded by EJP RD) allowing for, not only an expansion in research for GNE myopathy, but a project in which patients are central to decision making, leading and coordinating efforts.

EURORDIS also recognises Michela’s contribution to several advisory boards and evaluation panels, the PENREP WG, the DITA taskforce, alongside co-chairing the RD’s GO FAIR Patient Network. Michela is an active ePAG, and in 2022 she joined MetabERN as a Stakeholder Manager. Through her work, Michela has enabled more patients to be involved in research, drug development and decision-making processes as well as guiding them on how to access information regarding their disease.

An Interview with Michela Onali

Professor Hans-Georg EichlerAward name: Policy Maker AwardYear of the award: 2022

The EURORDIS Policy Maker Award is awarded to Prof. Hans-Georg Eichler MD, MS for his dedication to making a real difference in the rare disease community through his academia, institution and regulatory experience. Hans-Georg is currently the Consulting Physician of the Association of Austrian Social Security Bodies. Before holding this position, he was the Senior Medical Officer of the European Medicines Agency for more than 14 years, and Professor and Chair of Clinical Pharmacology at the Medical University of Vienna. He held a range of other full-time and honorary positions in academia, industry and government. This award acknowledges the role he played at the forefront of the campaign for clinical research to be more innovative in order to reduce the time and money it takes for a drug to come to the market. In his role as Senior Medical Officer of the European Medicines Agency he showed incredible leadership advocating for drugs licensing. The award also recognises his active engagement with the Clinical Trials Transformative Initiative (CTTI), his commitment to making clinical research more global and bringing information to those who need it most and the active role he has played within EURORDIS by co-chairing the 32nd ERTC workshop and being a Programme Committee member for ECRD 2022.

Dr Anne-Sophie LapointeAward name: Leadership AwardYear of the award: 2022

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.

Professor Franz SchaeferAward name: Scientific AwardYear of the award: 2022

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.