Rare diseases are characterized by a particularly low prevalence in the population, with their exact definition varying by territory. The European Union considers diseases to be rare when they affect fewer than 1 in 2,000 individuals. According to the National Institutes of Health (NIH), there are over 7,000 rare diseases affecting as many as 30 million people in the United States, which accounts for an estimated 4% of the world population. For those affected, 50% of them are children, and as many as 3 out of 10 affected children may die before the age of 5.

Proportion of Rare Diseases in MalaCards

Rare diseases account for more than 2/3 of all known diseases

Introducing the Rare Disease Data Center (RDDC)

Considering the growing importance of rare disease research, a robust database of rare diseases can contribute to accelerating global solutions to diagnosis, treatment, and management of these conditions. In February 2022, the Rare Disease Data Center (RDDC) was officially released to the international research community. It was developed by Research Institute of Tsinghua, Pearl River Delta (RITPRD) and assisted by Cyagen Bioscience. With the highlight of exclusive disease-related gene prediction tools driven by Artificial Intelligence (AI), the RDDC integrates a wide spectrum of information from all existing data, such as epidemiological data, disease-related gene profiles, variants, phenotypes, drug developmental outlines, and disease-associated mouse models for all reported rare diseases.

The RDDC aims to provide a fast understanding of rare disease pathologies with visualization capabilities and offers the maximum convenience for people who are dedicated to the treatments of rare disease, such as clinical doctors, scientific researchers from universities, and more. Since AI is playing an increasingly important role in interdisciplinary studies, including small molecule drug discovery, macromolecular structure prediction and pathological picture recognition and so forth, the RDDC offers these AI-mediated gene diagnosis tools available based on the sophisticated Artificial Intelligence model developed by Cyagen’s AI experts.

RDDC aims to apply AI technology to the whole process of drug development for the rare diseases

The RDDC & Cyagen

With more than 15 years’ experience in genetic engineering, Cyagen has been honored to assist Research Institute of Tsinghua, Pearl River Delta in developing the revolutionary Rare Disease Data Center (RDDC). The insights gained throughout the collaboration allow Cyagen to further support the development of rare disease therapeutics by developing accessible animal models for researchers to study disease mechanisms, target validation, drug screening, and more.

>> Visit the RDDC to try our Variant Pathogenicity

>> Visit the RDDC to try our RNA Splicing Model tools


Rare Disease Model Collaboration Program

Over the past year, Cyagen has focused on developing educational resources and initiatives to assist the rare disease research community. To help inform our R&D of precise animal models for rare disease studies, we initiated a Rare Disease Model Collaboration Program in Q1 2021. With this program, we aim to build a community of rare disease researchers with ideas for the next generation of animal models needed to advance their field of study.


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Inquiries and Consultation Requests

We would be very interested in learning how we may be able to support your research. Do not hesitate to contact us for a complimentary project consultation. Alternatively, you can always email animal-service@cyagen.com or call 800-921-8930 to discuss what we can do for you. We are here to help!