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Rare Disease Data Center
专注于疾病相关基因、突变和动物模型数据的汇集，利用人工智能加速生物医药研究
推荐工具
丰富的数据可视化，降低罕见病知识的学习成本
罕见病数据中心（英文: Rare Disease Data Center, 简称“RDDC”）是由清华珠三角研究院和赛业生物共同建设, 整合了国内外开源的流行病学、药物研发、疾病相关基因图谱、基因突变位点、大小鼠模型等数据信息。
基于遗传大数据资源, 结合人工智能与生物信息技术，RDDC部署了突变致病性预测（Pathogenicity Predictor）、突变剪接预测（RNA Splicer）等AI工具，有望极大推动罕见病相关的研究工作。
资讯动态
Genetic Encyclopedia
BIPF Mouse & Ism1Gene
What Is the BIPF Mouse? Understanding the IPF “Gold-Standard” Model and Key Gene ISM1
November 18, 2025
Frontiers
Metabolomics
Orphanet Journal of Rare Diseases | Applications of Metabolomics in Screening and Diagnosis of Inherited Metabolic Disorders
February 17, 2026
Industry Insights
Genetic Disease Research & AI Bioinformatics
AI-Empowered Breakthroughs in Genetic Disease Research: Industry Pain Points and RDDC Solutions
November 26, 2025
Case Studies
RDDC RNA Splicer & TCF4
RDDC Tool Decodes TCF4 3'UTR Variant in PTHS
October 23, 2025