Healthcare Delivery and Nutritional Support in Rare Diseases
A special issue of International Journal of Environmental Research and Public Health (ISSN 1660-4601). This special issue belongs to the section "Infectious Diseases, Chronic Diseases, and Disease Prevention".
Deadline for manuscript submissions: 30 November 2026 | Viewed by 223
Special Issue Editor
Special Issue Information
Dear Colleagues,
Rare diseases are operationally defined as conditions affecting fewer than 1 in 2,000 individuals within any World Health Organization (WHO) region [1]. These conditions encompass a complex spectrum of genetic disorders, rare cancers, and infectious, immunological, and idiopathic diseases, collectively impacting 300 million people globally. For these patients, the burden extends beyond the pathology itself, and is often characterized by arduous diagnostic odysseys and systemic barriers to care.
This Special Issue focuses on the current state of knowledge regarding Healthcare Delivery and Nutritional Support in Rare Diseases. While diverse scientific studies exist, there is a critical need for real-world evidence (RWE) to guide effective public policy. Basic science and randomized clinical trials (RCTs) remain fundamental; however, bridging the gap between controlled studies and clinical reality is essential to providing actionable data on implementation, access, and outcomes across diverse populations.
In 2025, WHO Member States convened at the 78th World Health Assembly to address rare diseases, establishing them as a global health priority. Discussions emphasized integrating these conditions into universal health coverage, expanding newborn screening, and leveraging digital technologies. Furthermore, an action plan was proposed to foster research, ensure equitable access, and protect patient rights, thereby mitigating the social exclusion caused by delayed diagnoses and prohibitive costs.
Submissions may include cross-sectional studies, case–control studies, cohort studies, and qualitative studies, reviews, commentaries, perspectives.
I look forward to receiving your contributions.
Reference
1. Wang, C.M.; Whiting, A.H.; Rath, A; Anido, R; Ardigò, D; Baynam, G., Dawkins, H.; Hamosh, A.; Le Cam, Y; Malherbe, H.; et.al. Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases. Orphanet J Rare Dis. 2024, 19, 334.
Dr. Sancha H. L. Vale
Guest Editor
Manuscript Submission Information
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Keywords
- rare diseases
- nutritional support
- health economics
- precision medicine
- quality of life
- health literacy
- personalized nutrition
- digital health
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