A multi-omics annotation platform for rare disease to benefit precision medicine
2018
In recent years, with the development of biomedical
technology as well as the concept of “precision medicine”,
much effort has been devoted to relevant preclinical and clinical
research, leading to the molecular study of diseases. Meanwhile, the
diagnosis and treatment of diseases are becoming more and more personalized.
With low incidence, complicated pathogenesis and large difficulty
in treatment, rare diseases have aroused public awareness. Latest
studies have found that detailed clinical phenotype is the keystone
of deciphering genes and precise treatment for rare diseases. To develop
precision medicine and to improve the diagnosis and treatment of rare
diseases, we built a standardized Chinese platform named Encyclopedia
of Rare Disease Annotation for Precision Medicine (eRAM, www.unimd.cn/eram ), which
systematically integrates the clinical manifestations and molecular
annotations of rare diseases and provides new connections among rare
diseases. At present, the platform contains a rich annotation for
15,942 rare diseases, including 6,147 human disease-related phenotypes,
31,661 mammalian phenotypes, 10,202 symptoms from UMLS, 18,815 genes,
and 92,580 genotypes. eRAM provides enriched disease multi-level annotations,
as well as connections among rare diseases. Moreover, additional functions
are provided, including disease prediction and EMR (electric medical
records) submission for users, providing information about rare disease
mechanisms and assisting clinicians to make accurate diagnosis and
treatment decisions for rare diseases.
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