Genetic and Rare Diseases

Genetic and rare diseases present complex challenges due to their underlying genetic heterogeneity and our limited understanding of their molecular mechanisms. Comprehensively investigating these debilitating conditions requires harnessing the power of multi-omics technologies like next-generation sequencing (NGS) and mass spectrometry. Our diverse multi-omics solutions, including whole genome, exome and RNA sequencing, epigenetic analysis, and targeted mass spec assays, provide the advanced capabilities needed to drive genetic and rare disease research forward. By leveraging our expertise and cutting-edge technologies, researchers can unravel disease etiology, identify therapeutic targets, and develop personalized treatment strategies to improve patient outcomes.
/Genetic and Rare Diseases

Multi-Omics in Genetic and Rare Diseases

Variant detection: NGS identifies genetic mutations, including single nucleotides, insertions, deletions and structural variants for diagnosis and elucidating genetic roots.
Novel gene discovery: Sequencing facilitates finding rare or de novo variants in patients, expanding our knowledge of disease genetics.
Pathway elucidation: Sequencing and expression analysis illuminates molecular pathways disrupted by functional variants in coding, regulatory or non-coding regions.
Precision medicine: Data enables developing personalized approaches by linking genetic profiles to disease progression, treatment response and drug metabolism.
Epidemiology insights: Comprehensive data aids population studies of disease prevalence, inheritance and regional genetic variations.
Biomarker discoveries: Integrated omics reveal genetic and proteomic biomarkers associated with progression, prognosis and therapeutic monitoring.
Proteomics and metabolomics: as powerful tools for studying genetic and rare diseases. By analyzing proteins and small molecules, these tools give researchers a better understanding of disease mechanisms, which can lead to new treatments and therapies.

NGS Applications

Whole Genome Sequencing

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Whole genome sequencing enables researchers studying genetic and rare diseases to comprehensively analyze the entire genome, actively identifying causative mutations, understanding disease mechanisms, and developing improved diagnostics and targeted therapies.

Whole Exome Sequencing

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Whole exome sequencing allows researchers studying genetic and rare diseases to efficiently analyze the protein-coding regions of the genome, actively identifying disease-causing mutations, gaining insights into biological mechanisms, and accelerating the development of improved diagnostics and targeted therapies.


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By identifying chemical modifications influencing gene expression, epigenetics services enable researchers to study genetic and rare diseases to uncover new mechanisms controlling development and pathogenesis, driving critical advances in diagnostic testing and targeted therapy development.

RNA Sequencing

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Through the active profiling of gene expression levels, RNA sequencing enables researchers researching hereditary and uncommon diseases to quickly find networks of genes and non-coding RNAs involved in disease and development, accelerating the search for novel diagnostic biomarkers and therapeutic targets.


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Metagenomics enables the comprehensive study of microbial communities in rare genetic diseases through next-generation sequencing, unveiling genomic insights to advance diagnosis and treatment.

Single Cell Sequencing

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Single-cell sequencing reveals rare mutations and transcriptomic heterogeneity in individual cells to advance the diagnosis and treatment of genetic diseases.


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Spatially resolved transcriptomic technology can map the organ cell atlas at the transcriptome level, and analyze the cell types, transcriptomic characteristics, and cell-to-cell communication. It brings profound changes to organ research of physiological function and related diseases.

Mass Spectrometry Applications

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