System forresearching rare diseases

Abstract

The invention discloses a system for rare diseases. The system comprises a user identity authentication and authority management module, an auditing management module, a metadata management module, aform template management module in communication connection with the metadata management module, a genotype acquisition module, a rare disease case data management module in communication connection with the form template management module and the genotype acquisition module, and an analysis module in communication connection with the rare disease case data management module. According to the invention, rare disease cases to be researched can be efficiently and comprehensively collected according to research purposes, research on possible interaction of genes and the environment during occurrence of diseases is carried out in combination with the computer technology, and the diagnosis efficiency of rare diseases is improved.

Description

technical field [0001] The invention relates to the field of medical information technology, in particular to a system for rare disease research. Background technique [0002] Rare diseases are referred to as "rare diseases" for short, also known as "orphan diseases". Most rare diseases are chronic, severe conditions that are often life-threatening. About 80% of rare diseases are caused by genetic defects, so rare diseases generally refer to "rare genetic diseases". According to the report of the World Health Organization (WHO), there are more than 5,000 recognized rare diseases, accounting for about 10% of human diseases; about 50% of rare diseases can occur at birth or in childhood, and the disease often progresses Rapidly, the mortality rate is very high, and most of them still have no effective treatment method, which causes great suffering to the patients. [0003] Rare disease is a relative, dynamic, and changing concept. Different countries and regions in the world...

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Problems solved by technology

[0006] In view of this, the purpose of the embodiment of the present invention is to propose a system for rare disease research, which can solve the problem of convenient, efficient and comprehensive registration of rare disease cases and efficient analysis of genes and environments in the occurrence of rare diseases. issues such as interactions in

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