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Editorial
Black Pearl Awards 2023: First Awardees Announced
In the run up to the 2023 edition of the EURORDIS Black Pearl Awards, to be held on 21 February 2023 in Brussels, EURORDIS is announcing awardees in the weeks running up to the event.
The event, held every year since 2012 ahead of Rare Disease Day, is the opportunity to recognise the impact made by those in the rare disease community who make a difference in for the community.
EURORDIS has announced the awardees in the categories for Volunteer Award, Advocate Award, EURORDIS Member Award, Scientific Award, Leadership Award, Media Award, Scientific Award, and Leadership Award.
The EURORDIS Member Award will be bestowed on Orphan Diseases of Ukraine in recognition of their work in national policy-making since the introduction of the 2014 Ukrainian Law on Rare Diseases and work towards the 2021 National Strategy and Action Plan on Rare Diseases. The award also recognises the tireless work of the organisation to coordinate a response to the needs of rare diseases patients since the break out of full-scale war in Ukraine in early 2022, and their continued efforts to coordinate with key institutional partners at national and international level to keep rare diseases as a policy priority during this time.
The Media Award recognises the film “Red Sandra”, a film recounting a Belgian family’s experience with their daughter’s diagnosis with Metachromatic leukodystrophy (MLD), by Jan Verheyen and Mien Willaert. The Award recognises the impact of the film on bringing light to the challenges around rare disease diagnosis and the rare disease patient journey.
Michela Onali will receive the EURORDIS Volunteer Award as a recognitiion of her work for the rare disease community, especially for those with the most rare of rare diseases. She has tirelessly worked since her own diagnosis with CNE myopathy, to advance research in the field and to ensure that patients play a central role in the process. Her involvement in different advisory boards, evaluation panels and patient networks is also recognised through this award.
The Young Patient Advocate award is bestowed upon Adrian Goretzki, a lawyer and patient advocate and former leader of the Polish Association for Patients with Primary Immunodeficiencies 'Immunoprotect'. His dedication is recognised by this award, in particular his successful campaign for the reimbursement of SCIG home therapy for adults with primary immunodeficiencies and his work in support of the Ukrainian rare disease community in terms of legal and practical aide.
Dr Luisa-Maria Botella Cubells will recieve the 2023 Scientific Award for her over 20 years of research into rare diseases, and her work towards treatments for Hereditary Hemorrhagic Telangiectasia and Von Hippel-Lindau Syndrome. She is also one of the founding members of the Spanish Hereditary Hemorrhagic Telangiectasia Patient Association, and is an active collaborator of FEDER since 2012. She is also been part of the VASCERN HHT ePAG since 2016.
The 2023 Leadership Award will be bestowed on Dr. Holm Graessner for his career dedicated to rare diseases and coordination of numerous rare disease projects at national, European and international level. He was the founder and managing director of the dirst Rare Disease Centre in Germany and has collaborated with ACHSE, the German RD patient alliance to organise the first national RD conferences in Germany. He has been coordinating the ERN-based SOLVE-RD project since 2018 with the aim of solving the unsolved rare diseases. He is also coordinator of ERN RDN and has contributed to the integration of ERNs in national health systems.
You can discover more about the awardees on the Black Pearl website.
Registration for the event is now open.
ERN News
Time for an overhaul of rare disease education in Europe and beyond
A recent position paper from a number of experts hailing from various European Reference Networks has been published in the Orphanet Journal of Rare Diseases calling for a new approach to rare disease education. As it stands, there is a lack of knowledge and awareness of rare diseases throughout the healthcare workforce. This has forced patients and their families to become experts by experience and coordinate their own care, as health systems are ill equipped to handle their complex needs.
To address this disconnect and better serve people living with rare diseases, a number of educational resources have been developed in recent years, such as online training modules, conferences, and post-doctoral programs. Unfortunately, awareness of such resources is low, and even those which do exist are typically underutilised.
Educational resources are particularly important for practitioners such as nurses and GPs, who provide non-specialised care but who must nevertheless be prepared to recognise warning signs of a rare disease in their patients. However, awareness of where to find information about rare diseases is generally poor among these groups.
The authors of this paper, who belong to the European Reference Networks ERN-RND, MetabERN and EURACAN, propose a common strategy for rare disease education as a solution to the lack of knowledge and awareness among healthcare providers. Such a strategy would be developed and implemented by multiple actors, such as universities, patient organizations, and European Reference Networks; and must be supported by national, international, and professional policies and strategies. This would ensure a comprehensive, coherent training programme which would increase the capacity of the healthcare workforce and shift the burden of care coordination away from patients.