Rare Diseases

Biognosys is the world leader in the application of next-generation proteomics solutions to accelerate your research and drug development timelines.

The unique molecular characteristics of rare diseases pose significant challenges for drug discovery. Proteomics tools such as mass spectrometry offer a versatile, reliable platform for deep phenotyping of genetic variants and uncovering previously unknown mechanisms of disease.

Validation of CRISPR Gene Knockouts

Functional insights into genetically modified systems

Gene editing tools such as CRISPR-Cas9 have revolutionized rare disease research.  Highly targeted genetic modification allows high-throughput screening for target identification or validation, and rapid generation of cellular or animal models. Biognosys’ Discovery Proteomics profiling enables rapid and functional validation of targets in pre-clinical models, as well as the characterization of any secondary downstream consequences of gene modification.

 

Case Study: Validation of CRISPR Gene Knockouts Using Discovery Proteomics

Application: Protein Quantification

Targeted Protein Quantification

Absolute quantification of targeted protein panels

Biognosys’ Target Proteomics workflows provide a precise, sensitive and scalable platform for monitoring simultaneously the expression of hundreds of proteins. The high specificity of the Targeted Proteomics workflows enables proteins with minor sequence differences to be resolved. Assays for specific proteins of interest can be readily developed in a matter of weeks and applied across hundreds or thousands of samples collected at multiple time points, making proteomics an invaluable tool for studying the biology, progression, and treatment of rare diseases.

 

Case Study: Targeted Protein Quantification

Application: Protein Quantification

Small Molecule Target Deconvolution

Proteome-wide characterization of the binding specificity and selectivity of small molecules

Biognosys’ drug Target Deconvolution approach Limited Proteomics Mass Spectrometry (LiP-MS) can effectively identify protein drug targets and characterize their binding properties in complex proteomes without the need for compound modification or labeling.

In this specific example, LiP-MS was used to distinguish the specificity and selectivity of different kinase and phosphatase inhibitors.

 

Case Study: Target Deconvolution of Drug Specificity and Selectivity

Publication: A machine-learning-based chemoproteomic approach to identify drug targets and binding sites in complex proteomes (Nature Communications, 2020)

Technology Video: LiP-MS: A Novel Target Deconvolution Approach

Application: Target Deconvolution

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