Rare diseases: a comprehensive literature review and future directions
Abstract Rare diseases (RDs) affect a small percentage of the population but collectively impact millions worldwide. Their diagnosis and treatment remain challenging due to clinical heterogeneity, limited research, and high costs. Advances in genomics, artificial intelligence, and orphan drug develo...
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| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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Springer
2025-07-01
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| Series: | Journal of Rare Diseases |
| Online Access: | https://doi.org/10.1007/s44162-025-00099-6 |
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| _version_ | 1849389200358506496 |
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| author | Aryan Chaudhary Vidyapati Kumar |
| author_facet | Aryan Chaudhary Vidyapati Kumar |
| author_sort | Aryan Chaudhary |
| collection | DOAJ |
| description | Abstract Rare diseases (RDs) affect a small percentage of the population but collectively impact millions worldwide. Their diagnosis and treatment remain challenging due to clinical heterogeneity, limited research, and high costs. Advances in genomics, artificial intelligence, and orphan drug development have improved diagnostic precision and therapeutic options, yet access disparities persist. Patients face not only medical challenges but also significant psychosocial burdens. Addressing these issues requires interdisciplinary collaboration, increased research funding, and policy reforms to accelerate drug development and improve healthcare accessibility. Innovative solutions like telemedicine and data-sharing networks can bridge existing gaps. This article explores the current landscape of rare disease research, highlighting challenges and potential strategies to enhance diagnostics, treatment, and patient care. This review emphasizes the need for targeted interventions by highlighting recent advances such as CRISPR-Cas9 and AI-assisted diagnostics, which have shown transformative potential in improving early detection and treatment of rare diseases. This review further addresses the importance of real-world evidence (RWE), mental health integration, patient advocacy, and regulatory frameworks in shaping equitable and effective rare disease strategies. A conceptual framework is proposed to unify key challenges, stakeholders, solutions, and outcomes, offering a holistic path forward. |
| format | Article |
| id | doaj-art-61ee307ebaba431baf706047d67a6aa9 |
| institution | Kabale University |
| issn | 2731-085X |
| language | English |
| publishDate | 2025-07-01 |
| publisher | Springer |
| record_format | Article |
| series | Journal of Rare Diseases |
| spelling | doaj-art-61ee307ebaba431baf706047d67a6aa92025-08-20T03:42:02ZengSpringerJournal of Rare Diseases2731-085X2025-07-014111110.1007/s44162-025-00099-6Rare diseases: a comprehensive literature review and future directionsAryan Chaudhary0Vidyapati Kumar1Chief Scientific Advisor, BioTech Sphere Research, India, Unit of NeoNexus Healthcare Pvt LtdDepartment of Mechanical Engineering, Indian Institute of Technology KharagpurAbstract Rare diseases (RDs) affect a small percentage of the population but collectively impact millions worldwide. Their diagnosis and treatment remain challenging due to clinical heterogeneity, limited research, and high costs. Advances in genomics, artificial intelligence, and orphan drug development have improved diagnostic precision and therapeutic options, yet access disparities persist. Patients face not only medical challenges but also significant psychosocial burdens. Addressing these issues requires interdisciplinary collaboration, increased research funding, and policy reforms to accelerate drug development and improve healthcare accessibility. Innovative solutions like telemedicine and data-sharing networks can bridge existing gaps. This article explores the current landscape of rare disease research, highlighting challenges and potential strategies to enhance diagnostics, treatment, and patient care. This review emphasizes the need for targeted interventions by highlighting recent advances such as CRISPR-Cas9 and AI-assisted diagnostics, which have shown transformative potential in improving early detection and treatment of rare diseases. This review further addresses the importance of real-world evidence (RWE), mental health integration, patient advocacy, and regulatory frameworks in shaping equitable and effective rare disease strategies. A conceptual framework is proposed to unify key challenges, stakeholders, solutions, and outcomes, offering a holistic path forward.https://doi.org/10.1007/s44162-025-00099-6 |
| spellingShingle | Aryan Chaudhary Vidyapati Kumar Rare diseases: a comprehensive literature review and future directions Journal of Rare Diseases |
| title | Rare diseases: a comprehensive literature review and future directions |
| title_full | Rare diseases: a comprehensive literature review and future directions |
| title_fullStr | Rare diseases: a comprehensive literature review and future directions |
| title_full_unstemmed | Rare diseases: a comprehensive literature review and future directions |
| title_short | Rare diseases: a comprehensive literature review and future directions |
| title_sort | rare diseases a comprehensive literature review and future directions |
| url | https://doi.org/10.1007/s44162-025-00099-6 |
| work_keys_str_mv | AT aryanchaudhary rarediseasesacomprehensiveliteraturereviewandfuturedirections AT vidyapatikumar rarediseasesacomprehensiveliteraturereviewandfuturedirections |