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Diagnostic Research & Development

Diagnostic research and development of rare diseases can provide fast, accurate, and reliable methods to identify and diagnose rare diseases. With the rapid development and important breakthrough of modern biotechnology, chemical, enzyme, immunoassay, and probe techniques have been used in rare disease diagnostic reagents, and the sensitivity and specificity have been greatly improved. The rich diagnostic products provide a guarantee for rare disease diagnosis research and development and greatly accelerate the prevention and treatment of rare diseases.

With years of experience and advanced technology platforms, our company has developed a full set of products listed below to support the research and development of rare disease diagnosis.

Biochemical Diagnosis

Biochemistry is the study of biochemical changes under pathological conditions based on the normal biochemistry of the human body. It is mainly used to study the structure and function of various intracellular components, such as proteins, sugars, lipids, nucleic acids and other biological macromolecules. Assess an individual's physiological status, disease risk and disease diagnosis by detecting biochemical indicators in the body.

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Epigenetics studies the heritable changes in gene expression without changing the gene's nucleotide sequence, mainly including research on DNA methylation, histone modifications, and non-coding RNA. Epigenetics can differentiate between different types of cancer and explain phenotypic variation in some rare genetic diseases. Analysis of epigenetic markers helps diagnose rare disease categories.

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Metabolism-related research refers to the study of the relationship between metabolic substances and diseases. The occurrence process of rare diseases is often related to metabolic changes in tissues, organs, and cells. Therefore, metabolic research has received widespread attention in the field of rare disease diagnosis and treatment. By accurately quantifying small molecule metabolites in the body, we can analyze the relationship between metabolites and physiological and pathological changes in the body, study the occurrence and development of diseases, search for disease biomarkers, and assist in the research and development of disease diagnosis.

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