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Proteomic Analysis Service

Proteomic analysis plays an important role in the study of protein in large scale, information about the structure, function and interactions of proteins in biological systems is fully revealed. Our company provides cutting-edge protein sequencing and in-depth personalized analysis services to help you quickly parse protein profiles associated with rare diseases.

Proteomics in Rare Disease

Proteins are the main components that ultimately perform functions in living organisms. They are responsible for a variety of biological functions, including catalyzing metabolic reactions, supporting cell structures, transmitting signals, participating in immune responses transporting molecules, and so on. In rare diseases, abnormal post-translational modifications, or changes in the distribution and localization of proteins within the cell, lead to abnormalities in protein enzyme activity, structural support, interaction, and signal transduction. The cutting-edge proteomics technology provides researchers with the opportunity to comprehensively analyze the scarce samples of rare diseases as much as possible, enabling researchers to explore biomarkers for diagnosis and therapeutics.

Proteomic Analysis Service-1Fig.1 Precision proteomic in mitochondrial dysfunction linked to rare diseases (Aly et al. 2021)

Functional Proteomics in Rare Diseases

Systematic study of protein functions associated with rare diseases provides essential insights into the underlying molecular mechanisms. Changes in the function of proteins such as catalytic activity, regulation of transcription, and signal transduction by post-translational modifications or alter microenvironment contribute to disease pathology, as exemplified by the abnormalities of the protein interaction networks induced by post-translational modifications of cystic fibrosis transmembrane conductance regulator (CFTR).

Discovery Proteomics in Rare Diseases

Identifying novel proteins, pathways, and biomarkers relevant to rare diseases is one crucial step to provide valuable insights into disease mechanisms and potential therapeutic targets. Comparative analysis of proteomes from individuals with rare diseases and healthy controls assists to screen individual-specific proteins. The revelation of the different intracellular pathways associated with inflammation by proteomic analysis on monocytes of individuals with hereditary periodic fever syndromes (HPFSs) is one of the practical examples.

Structural Proteomics in Rare Diseases

It is essential to understand the 3D structure of proteins, the protein complex topology, and the conformational state to gain insight into their functions and interactions. The identification and characterization of active sites provide information for understanding the catalytic active sites of proteins and their interactions with other substances. A classic example is that the structure of tyrosine kinase is changed by the fusion with ABL1, which results in abnormal cell proliferation and causes chronic myeloid leukemia (CML).

Spatial Proteomics in Rare Diseases

The subcellular localization of proteins is also crucial for the proper function of proteins. The interactions of cell to cell and cell to extracellular matrix are inseparable from signal transduction, which is responsible for many types of proteins. In addition, spatial variations in protein expression and localization within tissues also provide clues to reveal the heterogeneity of diseases, exactly as the mutated configuration of SOD1 protein causes it to accumulate on the mitochondrial surface, triggering mitochondrial disorders and ultimately amyotrophic lateral sclerosis (ALS).

Our Services

Proteomics analysis uses a variety of cutting-edge technologies to analyze the protein profiles related to rare diseases, which provides data for diagnosis and therapeutics. Our company has a fully-developed diagnostics development system that provides you with an advanced protein informatics team to support the proteomics analysis of rare diseases. Our services include but are not limited to:

Unbiased Discovery Service Targeted Proteomics Service Post Translational Modifications Analysis Service Speciality Proteomics Service
Unbiased and comprehensive analysis is constructed for all proteins in biological samples, including small or rare proteins. Focus on a pre-selected set of specific proteins for accurate and highly sensitive quantification in biological samples To study the various chemical modifications that protein molecules undergo after translation and their function and stability. Explore the protein composition of samples from extremely rare diseases to provide highly specialized information.

Our services will help you achieve the goals as follows:

  • Advancing proteomics research on rare diseases
  • Differential diagnosis and endotype classification of rare diseases
  • Prediction of rare disease progression
  • Detection of pathophysiologic mechanisms and potential drug targets
  • Development of new diagnostics and prognostics

Project Workflow

  • Sample Collection
    Sample Collection
  • Protein Extraction and Digestion
    Protein Extraction & Digestion
  • MS Analysis
    MS Analysis
  • Bioinformation Analysis
    Bioinformation Analysis
  • Validation and Testing
    Validation & Testing

Our Advantages

Multi-faceted comprehensive service

First-class project plan combined with client needs

Quality services with responsible team

Quality services with responsible team

Mature and strict implementation standards

Mature and strict implementation standards

Experienced high-level technical personnel

Experienced high-level technical personnel

Staffed by protein biology experts with rich experience in protein library construction and mass spectrometry detection, our company provides one-stop proteomics analysis services to help you readily obtain protein profiles to rare diseases. If you are interested in our proteomics analysis service, please feel free to contact us for more information.


  • Aly KA, et al. From fuzziness to precision medicine: on the rapidly evolving proteomics with implications in mitochondrial connectivity to rare human disease. iScience, 2021, 24 (2):102030.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.

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