Research on the Clinical Characteristics and Key Diagnosis and Treatment Technology of Genetic and Metabolic Liver Disease

Overview

1. Establish a follow-up cohort of genetic and metabolic liver disease in The Chinese population, and carry out research on disease spectrum, clinical characteristics and personalized diagnosis and treatment to improve the level of diagnosis and treatment. 2. Establish a multidisciplinary collaborative diagnosis and treatment model of genetic metabolic liver disease, develop and promote diagnosis and treatment paths, and improve the diagnosis and treatment ability of genetic metabolic liver disease in Beijing and even the whole country. 3. Establish a new CRISPR gene diagnosis technology to realize fast and low-cost genetic testing. 4. Elucidating the genetic mutation spectrum of common genetic and metabolic liver disease in China is helpful to accurate gene diagnosis and functional research. 5. Study the genotype-phenotype, mutation and clinical outcome relationship and influencing factors of the common genetic and metabolic liver disease population in China, to guide the early diagnosis, early treatment and improve the prognosis.

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Interventions