Awardees - EURORDIS Black Pearl Awards

EURORDIS-Rare Diseases Europe wishes to recognise the major achievements and outstanding commitment of patient advocates, patient organisations, policymakers, scientists, companies, and 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 12 categories, appointed by the EURORDIS Board of Directors.

Our 2023 Black Pearl Awardees will be announced on this page every week leading up to the ceremony. Stay tuned!

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.

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.

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

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.

You can view the trailer of the movie with English subtitles below.

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.

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.