Rare Disease Data Center
Aggregating data on disease genes, variants, and models, using AI to advance biomedical research
Decoding Life's Mysteries with Global Big Data
Your Essential Research Assistant
Our Rare Disease Database, supported by the Research Institute of Tsinghua, Pearl River Delta (RITPRD) and Cyagen, integrates comprehensive and authoritative information from renowned international databases. This robust resource facilitates and enhances rare disease research efforts.
Visualizing Data Richness
Simplifying the Learning Curve for Rare Diseases
The Rare Disease Data Center (RDDC), an independent initiative by the Research Institute of Tsinghua, Pearl River Delta (RITPRD), is your comprehensive source for worldwide open-source data related to rare disease epidemiology, drugs, genetics, mutations, and animal models.
With a solid foundation in genetic big data resources, RDDC employs cutting-edge AI technology and bioinformatics to develop innovative tools such as Pathogenicity Predictor and RNA Splicer, all aimed at propelling rare disease research forward.
Timely Updates
The database information is regularly updated to ensure accuracy and timeliness.
Data Visualization
Visualizing complex data for easy understanding and data mining.
Data Streamlining
Streamlining research data while focusing on key information facilitates data analysis.
All-in-One
One-stop data service provides convenient data acquisition for scientists and medical practitioners.
AI and Bioinformatics Unite
Empowering Scientific Research
News and Updates
Corneal neovascularization (CNV) is a common clinical finding seen in a range of eye diseases. Current therapeutic approaches to treat corneal angiogenesis, in which vascular endothelial growth factor (VEGF) A plays a central role, can cause a variety of adverse side effects. The technology of Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)/Cas9 can edit VEGFA gene to suppress its expression. CRISPR offers a novel opportunity to treat CNV.
Human cellular models of neurodegeneration require reproducibility and longevity, which is
There has been new progress in the research of Amyotrophic Lateral Sclerosis (ALS), with the discovery of a novel pathogenic gene—PCDHA9. Mouse animal models have confirmed that mutations at this pathogenic site can lead to a typical ALS phenotype, and an in-depth analysis of the pathogenic mechanism has been conducted.
Today (January 25th), the Eye, Ear, Nose, and Throat Hospital affiliated with Fudan University took
