EURORDIS Black pearl awardees 2022



EURORDIS once again congratulates all of our 2022 Black Pearl Awardees for their commendable dedication to the rare disease community.

The Members Award is awarded to Childhood Cancer International Europe (CCI-E) for their outstanding advocacy of childhood cancers on a national and international level. This award acknowledges the organisation’s active commitment to fulfilling their role as patient advocates and patient representative in the European Reference Network for Paediatric Cancer (PaedCan), in several European committees and platforms and several EU projects such as the EU Joint Action on Rare Cancers, 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’ while standing shoulder to shoulder with rare adult cancer patients’ community.
Learn more about Childhood Cancer International Europe

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 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 care givers 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 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 Lifetime Achievement recognises the lifelong dedication Dr. Gahl has shown in addressing the needs of people living with a rare and undiagnosed disease. With this award, we would like to acknowledge the key role he has played in the creation of the Undiagnosed Diseases Network (UDN) within the National Institutes of Health, a programme that has played an 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). The programme provides an admirable example of an international institution which brings together the undiagnosed community at the global level and creates a structure and forum to exchange on undiagnosed cases for clinicians working worldwide.

Dr Gahl is world-leading researcher and expert in rare metabolic disorders, publishing more than 450 peer-reviewed papers. He is a leading expert for cystinosis and was instrumental in getting approval of the first treatment for cystinosis. Additionally, this award also recognises the discoveries made by Gahl’s lab of the genetic bases of gray platelet syndrome, Hartnup disease, arterial calcification due to deficiency of CD73, 3-methylglutaconic aciduria type III, 3 types of HPS, and neutropenia due to VPS45 deficiency.

The EURORDIS European Rare Disease Leadership Award recognises the outstanding leadership and dedication Dr Lapointe has 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.
It acknowledges her personal commitment and the crucial role she has played in steering the development of the rare disease cause through her many positions of leadership at the French Ministry of Health, Vaincre les Maladies Lysosmales (VML), Conseil National de l'Alliance Maladies Rare and the Comité d'éthique de l'INSERM.

We would like to acknowledge her determination and engagement, as well as her active involvement in advocating for rare diseases.

The EURORDIS Policy Maker Award recognises Prof. Eichler’s dedication to making a real difference in the rare disease community through his academia, institution and regulatory experience. 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.
This award also acknowledges his active engagement with Clinical Trials Transformative Initiative (CTTI), his commitment to making clinical research more global and bringing information to those who need it most. Prof. Eichler, who’s currently the Consulting Physician of the Association of Austrian Social Insurance Institutions, has also been playing an active role within several EURORDIS activities over the past few years.

The EURORDIS Young Patient Advocate Award recognises the outstanding contributions and dedication of Danielle Drachmann. 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.

The EURORDIS Volunteer Award recognises the outstanding contributions and dedication Graham Slater has shown to the rare disease community and to EURORDIS as a volunteer over the years. It acknowledges his incredible commitment to rare diseases and his work with TOFS, the Esophageal Atresia Global Support Group (EAT), European Reference Network for rare Inherited and Congenital (digestive and gastrointestinal) Anomalies (ERN ERNICA) and different EURORDIS working groups.
The award also recognises Graham’s long commitment to international collaboration in the rare disease domain, his leadership and drive 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 Social Media Award recognises the outstanding contributions and dedication Milica Savic has shown to the rare disease community through her social media account dedicated to her daughter Noa. Milica (Serbia) is the mother of a little hero and an amazing girl called Noa. Noa was born prematurely at 26 weeks, weighing only 700gr. 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 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 said she had less then 1% chance to live she is making her 1% more than it can even mean.
Through social media (Instagram platform mainly) Milica tries to educate and bring people closer to a life with a child with special needs. Negativity has no room on their page, where 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”.

The Scientific Award recognises Prof. Schaefer’s scientific excellence and comprehensive reach, the outstanding dedication he has demonstrated in the rare disease community and the positive impact he has made on rare disease research and patient community on an international level.
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, 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.

The Award selection was made in Partnership with

The EURORDIS Company Award for Health Technology 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 Award selection was made in Partnership with



The EURORDIS Company Award for Innovation 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, as a mother, patient advocate and entrepreneur determined to change the landscape for severe rare diseases affecting children’s central nervous system.

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.

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, we must limit the number of awardees each year to 12 categories, appointed by the EURORDIS Board of Directors.



Learn more about the great accomplishments and stories of the EURORDIS Black Pearl Awards Recipients from 2012 until 2021.