Recently, the national key research and development plan "Research on Key Technologies and Treatment Target Discovery and translational medicine for the diagnosis of children's rare diseases" was approved by the Ministry of Science and Technology and officially approved, with a total project funding of 24.5 million yuan. The project is led by tongji hospital, affiliated to Tongji Medical College of Huazhong University of Science and Technology. As the responsible unit of Project 5 "Establishment of Multi-modal Clinical Database and Development and Application of Intelligent Diagnosis and Treatment Platform", DHC has provided important technical support for the diagnosis and treatment of rare childhood diseases, and has been allocated 3.125 million yuan from the central government.

The purpose of this project is to reveal the genetic mechanisms of occurrence and development of rare childhood diseases by combining the disease-specific cohort with disease animal models. For children with rare diseases not confirmed, multi-group technology is used to confirm the genetic etiology and screen diagnostic biomarkers, to improve the disease diagnosis rate, and integrate the existing data of rare diseases, establish a sound and standardized intelligent diagnosis platform for children with rare diseases. Identifying drug treatment targets based on pathological mechanisms, and screening therapeutic drugs; Developing solid drugs for molecular treatment of rare diseases, and conducting preclinical studies and clinical trials for the purpose of new drug research; We will explore systematic treatment techniques surrounding gene therapy for rare childhood illnesses, develop normative documents, and establish a national quality control system.

Among them, Project 5, "Establishment of Multi-modal Clinical Database and Development and Application of Intelligent Diagnosis and Treatment Platform", was led by DHC, with the participation of Tongji hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology, Shanghai Jiaotong University, General Hospital of the People's Liberation Army of China, Peking Union Medical College Hospital of China Academy of Medical Sciences, etc. This topic mainly constructs the rare disease knowledge map and migration learning diagnosis and treatment model suitable for children in China, provides the detailed plan of the underlying support for the intelligent diagnosis and treatment platform, aims to improve the diagnosis rate and diagnosis efficiency of rare diseases in children, and establishes a set of new intelligent diagnosis and treatment system for rare diseases in children that can realize "early detection, diagnosis and treatment quality control, and full-cycle accurate intervention".

As the project leader, Dr. Gong Meng Chun, Senior Vice President and Chief Medical Information Officer of DHC, has rich experience in scientific research projects and has achieved fruitful results in the field of rare diseases in particular. He was Executive Director of the National Registry of Rare Diseases in China and is currently a member of the Diagnostic Sciences Committee of the International Union for the Study of Rare Diseases. Her main research fields are medical informatics, health technology assessment, health policy research related to rare diseases and medical education. In terms of scientific research, he has undertaken many national, provincial and ministerial-level projects, served as the chief expert in the "Active Health and Aging Response" special project of the national key research and development plan of the Ministry of Science and Technology, and undertook important research tasks in many major special projects such as precision medicine special project, pathogen special project, maternal and child special project, digital diagnosis and treatment equipment special project, and common and frequently-occurring disease special project.

Since its inception, DHC has actively participated in and undertaken various national key research and development programs. It has cooperated with top-level medical institutions, key universities and scientific research institutes both in China and abroad, undertaken dozens of national and provincial key research and development programs in the 13th and 14th Five-Year Plans, scientific and technological innovation 2030 and 863 Plans, participated in the construction of several national critical illness database platforms, and supported the development of multiple specific illness standard data sets. Focus on supporting China's oncology, cardiology, nephrology, critical medicine, rare disease and clinical genetics, epidemiology, gynecologic oncology, children's oncology and rheumatology immunology and other disciplines of national data system construction and research collaboration, the medical big data and artificial intelligence technology is applied to multiple clinical fields, mining multi-modal big data clinical and scientific research value, to help China's high-quality development of medical research.