1. Global health for rare diseases through primary care.
- Author
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Baynam G, Hartman AL, Letinturier MCV, Bolz-Johnson M, Carrion P, Grady AC, Dong X, Dooms M, Dreyer L, Graessner H, Granados A, Groza T, Houwink E, Jamuar SS, Vasquez-Loarte T, Tumiene B, Wiafe SA, Bjornson-Pennell H, and Groft S
- Subjects
- Humans, Health Services Accessibility, World Health Organization, Health Policy, Global Health, Primary Health Care organization & administration, Rare Diseases therapy, Rare Diseases epidemiology
- Abstract
Rare diseases affect over 300 million people worldwide and are gaining recognition as a global health priority. Their inclusion in the UN Sustainable Development Goals, the UN Resolution on Addressing the Challenges of Persons Living with a Rare Disease, and the anticipated WHO Global Network for Rare Diseases and WHO Resolution on Rare Diseases, which is yet to be announced, emphasise their significance. People with rare diseases often face unmet health needs, including access to screening, diagnosis, therapy, and comprehensive health care. These challenges highlight the need for awareness and targeted interventions, including comprehensive education, especially in primary care. The majority of rare disease research, clinical services, and health systems are addressed with specialist care. WHO Member States have committed to focusing on primary health care in both universal health coverage and health-related Sustainable Development Goals. Recognising this opportunity, the International Rare Diseases Research Consortium (IRDiRC) assembled a global, multistakeholder task force to identify key barriers and opportunities for empowering primary health-care providers in addressing rare disease challenges., Competing Interests: Declaration of interests PC is an employee of Medcan. HG receives grants or contracts from the European Commission and German Ministries for Health and Research; holds a leadership and fiduciary role as management team coordinating panel on rare neurological diseases, European Academy of Neurology; is a board member of association of German Centres for Rare Diseases; and is the chair of coordinators’ group of European Reference Networks. AG is an employee of Sanofi. SG is a volunteer and a board member of Every Life Foundation. All other authors declare no competing interests., (Copyright © 2024 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY-NC 4.0 license. Published by Elsevier Ltd.. All rights reserved.)
- Published
- 2024
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