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ORIGINAL RESEARCH article
Front. Public Health
Sec. Public Health Policy
Volume 12 - 2024 |
doi: 10.3389/fpubh.2024.1501942
Management of Rare and Undiagnosed Diseases: Insights from Researchers and Healthcare Professionals in Türkiye
Provisionally accepted- 1 Department of Medical Biochemistry, Faculty of Medicine, Katip Celebi University, Izmir, Türkiye
- 2 Institute of Neurological Sciences, Department of Neurogenetics, Istanbul University-Cerrahpasa, Istanbul, Türkiye
- 3 Izmir Biomedicine and Genome Center, Izmir, Türkiye
- 4 Department of Medical Genetics, Faculty of Medicine, Dokuz Eylül University, Izmir, Türkiye
- 5 Department of Pediatric Neurology, Faculty of Medicine, Izmir Katip Celebi University, Izmir, Türkiye
Diagnosis, treatment and management of rare diseases (RD) pose unique challenges due to their complex nature, significantly impacting the daily experiences of researchers and healthcare professionals working in this field. Despite increasing awareness and progress in the field of RD worldwide in recent years, a significant gap remains in our understanding of the specific barriers that these professionals face in their work with RD. This study provides a detailed survey analysis that sheds light on the challenges that researchers and healthcare professionals face in diagnosing, treating, managing and conducting research on RD. The survey was completed by 363 participants, revealing that participants face key challenges such as the need to refer patients to specialized centers, financial burdens, limited access to necessary tests, inadequate support for rare disease research and a lack of interdisciplinary collaboration. Participants also noted that RD are inherently difficult to conduct research on with small cohorts. Survey results also suggest a number of policy improvements to accelerate research on RD: increased funding, establishment of robust surveillance systems, and development of comprehensive national action plans and guidelines on RD. To the best of our knowledge, this is the first study to be conducted in Türkiye. This study contributes to the understanding of the needs of professionals in rare disease research and highlights the urgent need for system improvements to support them.
Keywords: RareBoost, rare disease, Survey, türkiye, Undiagnosed disease, Unmet needs
Received: 14 Oct 2024; Accepted: 31 Dec 2024.
Copyright: © 2024 Durmus, Yucesan, Aktug, Utz, Caglayan, Gencpinar, Günay, Oktay, Yildirim, Yigit and Ozbek. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Ugur Ozbek, Izmir Biomedicine and Genome Center, Izmir, Türkiye
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