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.
摘要：
罕见疾病影响着全球超过3亿人，并被公认为全球健康优先事项。它们被纳入联合国可持续发展目标，联合国关于应对罕见疾病患者挑战的决议，以及预期的世卫组织全球罕见疾病网络和世卫组织关于罕见疾病的决议，这还没有公布，强调其意义。患有罕见疾病的人经常面临未满足的健康需求，包括筛查，诊断,治疗,和全面的医疗保健。这些挑战突出表明需要提高认识和有针对性的干预措施，包括全面教育，尤其是在初级保健方面。大多数罕见疾病研究，临床服务,和卫生系统在专家护理下得到解决。世卫组织会员国承诺在全民健康覆盖和与卫生相关的可持续发展目标中注重初级卫生保健。认识到这个机会，国际罕见疾病研究联盟（IRDiRC）召集了一个全球性的，多利益相关方工作组，以确定增强初级卫生保健提供者应对罕见疾病挑战的关键障碍和机会。
