When it comes to the diagnosis and treatment of rare diseases, if the disease-causing locus cannot be found, how should we analyze and study it?

For rare disease diagnosis and treatment, the problem of not being able to locate the disease-causing locus is very challenging. Is there a fast and accurate solution available?

Mr. Han Lanqing, Director of the Artificial Intelligence Innovation Center at the Tsinghua Pearl River Research Institute and Executive Secretary-General of the Guangzhou Rare Disease Gene Therapy Alliance, stated that to address this problem, the Guangzhou Rare Disease Gene Therapy Alliance, led by the Tsinghua Pearl River Research Institute's Artificial Intelligence Innovation Center, in collaboration with Sage Science, has developed the Rare Disease Data Center (RDDC) website (https://rddc.tsinghua-gd.org/), which integrates epidemiological data on diagnosed diseases, the evolution of drugs, gene maps related to diseases, mutation sites, disease-related experimental mouse models, and other information published globally. The website is equipped with a variety of AI tools that are highly concise and interactive, to boost research and development efficiency, and assist in the diagnosis and research of rare diseases. The website is completely free and available for use. Come and take advantage of it!

Gene Therapy for Ophthalmology: New Opportunities for Vision Restoration

Genetic eye diseases are caused by genetic defects and often manifest as familial diseases. China currently has about 5 million blind people, of which genetic eye diseases account for about 1/3 of childhood blindness and visual impairments, and 80% of blindness and severe visual impairments. Patients with single-gene inherited eye diseases account for about 4% of the total population. Compared with traditional medical methods, gene therapy as an innovative research and development field is flourishing both domestically and internationally. Similarly, it has also brought significant breakthroughs to the diagnosis and treatment of genetic eye diseases. Governments, enterprises, and research institutions are all actively promoting the industrialization of gene therapy drugs for ophthalmology.

To address this, the Rare Disease Data Center (RDDC) jointly developed by the Tsinghua Pearl River Research Institute and Sage Science, has also created a series of AI tools such as AI mutation pathogenicity prediction tools and AI mutation splicing prediction tools, to assist in the diagnosis and research of rare diseases and promote the development of gene therapy drugs.

Based on this, the Guangzhou Rare Disease Gene Therapy Alliance has invited experts such as Professor Jin Zhibing from Beijing Tongren Hospital Affiliated to Capital Medical University, Professor Liu Chunqiao from Sun Yat-sen University Zhongshan Ophthalmic Center, Professor Fan Guoping from Alcon Biology, Dr. Zhang Wei from Jiajian Medical, Director Han Lanqing from the Artificial Intelligence Innovation Center at the Tsinghua Pearl River Research Institute, and Dr. Ren Sheng from the Gene Therapy Department of Sage Science, to participate in a salon event entitled "Gene Therapy for Ophthalmology: New Opportunities for Vision Restoration", to collectively discuss the current status and future of gene therapy for genetic eye diseases.