Development and application of rare diseases biobank
Rare diseases(RD)are a general term for a group of diseases with extremely low incidence or prevalence and have been a challenge for the global medical community due to their diverse nature,difficulty in diagnosis,and limited treatment options.With the rapid development of translational medicine,countries have gradually increased investment in the research,diagnosis,and treatment of RD and drug development in recent years.Biobanks have been successfully applied in the field of common diseases and also play an important role in the field of RD.RD biobank integrates biological sample information with patient clinical information and multi-omics data to promote accurate phenotype and pathogenesis research of diseases,support high-level and large-scale cohort studies,accelerate the development and efficacy evaluation of new drugs and new treatment technologies,and support the whole chain of research modes from basic research to clinical transformation.This article reviews the development and application of clinical biobank in the field of RD,aiming to promote the establishment of a standardized,normalized,informationized,diversified and shareable model of RD biobank,and promote global collaboration and translational application,which is of great significance for the improvement of RD diagnosis and treatment capabilities and the development of medical science.
rare diseasebiobankstandardizationinformationizationtransformation and sharing
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