Huixian Li , Jingqiang Wang

Institute of Life Science, Jiyang College of Zhejiang A&F University, Zhuji, 311800, China
Author    Correspondence author
Computational Molecular Biology, 2025, Vol. 15, No. 3   doi: 10.5376/cmb.2025.15.0012
Received: 11 Mar., 2025    Accepted: 22 Apr., 2025    Published: 14 May, 2025

This is an open access article published under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Li H.X., and Wang J.Q., 2025, Building an integrated multi-omics database for rare diseases, Computational Molecular Biology, 15(3): 122-130 (doi: 10.5376/cmb.2025.15.0012)

 

Rare diseases are diverse in types and have a small number of patients with each type, but they cumulatively affect hundreds of millions of patients worldwide. Current research on rare diseases is confronted with challenges such as scattered data, inconsistent standards and difficulties in sharing. This article reviews the characteristics of the existing major rare disease databases (such as Orphanet, RD-Connect, MONDO, etc.), discusses the progress and limitations of multi-omics data integration methods, and introduces the new trend of data-driven rare disease research in the era of precision medicine. The application prospects of this database in discovering disease markers and therapeutic targets, supporting clinical decision-making and patient stratification, integrating artificial intelligence prediction models and drug reuse, etc. were explored. The contributions and main findings of this study were summarized. The potential impact of this integrated database on rare disease research and clinical translation was emphasized, and ideas for future expansion and sustainable development were proposed.

Rare diseases; Multi-omics; Data integration; Database architecture; Duchenne muscular dystrophy