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Omics and rare diseases: challenges, applications, and future perspectives
Daniela Braconi1, Haidara Nadwa1, Giulia Bernardini1
1Department of Biotechnology, Chemistry and Pharmacy, University of Siena, Siena, Italy.
Insights
High-throughput omics technologies offer new avenues for rare disease (RD) research, aiding diagnosis, understanding disease mechanisms, and discovering treatments. Collaborative efforts and AI integration are key to advancing RD care.
Area of Science:
- Genetics and Genomics
- Biotechnology
- Medical Research
Background:
- Rare diseases (RDs) present significant global health challenges due to their heterogeneity, complexity, and limited understanding.
- Typical RDs feature pediatric onset, lifelong impact, multisystemic involvement, and poor prognoses, necessitating advanced research approaches.
Purpose of the Study:
- To review the application of high-throughput omics technologies in studying rare diseases.
- To highlight the potential of omics for improving diagnosis, understanding pathogenesis, discovering biomarkers, and identifying treatments for RDs.
Main Methods:
- Review of high-throughput omics technologies including genomics, transcriptomics, proteomics, metabolomics, and epigenomics.
- Exploration of multi-omics approaches and artificial intelligence (AI) tools for RD research.
Main Results:
- Omics technologies are becoming more affordable and efficient, enabling deeper insights into RDs.
- Multi-omics and AI can drive biomarker discovery and personalized treatment strategies for rare diseases.
Conclusions:
- Rare diseases present a unique opportunity for collaborative, personalized treatment strategies leveraging omics technologies.
- Addressing technical, ethical, legal, and societal challenges is crucial for the successful implementation of omics in RD research.
Introduction:
Rare diseases (RDs) are a heterogeneous group of diseases recognized as a relevant global health priority but posing aspects of complexity, such as geographical scattering of affected individuals, improper/late diagnosis, limited awareness, difficult surveillance and monitoring, limited understanding of natural history, and lack of treatment. Usually, RDs have a pediatric onset and are life-long, multisystemic, and associated with a poor prognosis.
Areas Covered:
In this work, we review how high-throughput omics technologies such as genomics, transcriptomics, proteomics, metabolomics, epigenomics, and other well-established omics, which are increasingly more affordable and efficient, can be applied to the study of RDs promoting diagnosis, understanding of pathological mechanisms, biomarker discovery, and identification of treatments.
Expert Opinion:
RDs, despite their challenges, offer a niche where collaborative efforts and personalized treatment strategies might be feasible using omics technologies. Specialized consortia fostering multidisciplinary collaboration, data sharing, and the development of biobanks and registries can be built; multi-omics approaches, including so far less exploited omics technologies, along with the implementation of AI tools can be undertaken to deepen our understanding of RDs, driving biomarker discovery and clinical interventions. Nevertheless, technical, ethical, legal, and societal issues must be clearly defined and addressed.
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