Identification of functional SNPs by cell type
Platform
The Nucleome platform reveals the untold value of disease genetics for new medicines
Nucleome’s platform decodes the regulatory genome to create a holistic picture of the mechanisms underlying disease susceptibility by understanding which genes are affected in which cell type. The power of the platform is its ability to precisely decode regulatory genetics across the genome at scale, not simply study an individual gene.
The platform is a uniquely powerful suite of lab and machine learning technologies which reads the regulatory genome 1000s of genes and genetic variants at a time. The unrivalled scale of the platform enables Nucleome to decipher the complexity of biology in health and disease.
Nucleome uses proprietary genomics to match all disease-associated genetic variants with the genes they modify. Three proprietary technologies are used to interpret single nucleotide polymorphisms (SNPs) – common genetic variations among patients (GWAS) – to reveal the molecular underpinning of disease. This unique approach identifies which genes are regulated by which SNPs, and in which cell types.
3D genome confirmation capture linking SNPs to genes
Functional verification of the effect of a variant on gene expression
Applying Nucleome’s transformative technology to the immune system has enabled us to interpret these genetic variants and work backwards from disease to target, reversing the normal discovery process. This unique understanding is used to link relevant variants to disease in a cell-specific manner and in mechanistically defined subgroups to identify promising drug targets. Those targets are then experimentally tested in human cells in our inhouse private laboratory facilities. Validated targets are advanced to Nucleome’s pre-clinical pipeline to undergo further validation.
Elucidate disease mechanisms
Understand genome-wide patterns of gene regulation to reveal what goes wrong when disease develops.
Identify novel and validate existing druggable targets
Discover new therapeutic targets and genetically validate those with proven drug potential.
Stratify patients by molecular characteristics
Integrate disease-associated variants, dysregulated genes, and whole genome sequences from patients to identify patient subgroups.
Construct therapeutic maps
Integrate genome-wide signals of gene dysregulation to identify the cellular and molecular mechanisms driving disease.
Leverage machine learning for speed and scale
Use AI-driven technologies to replicate and enhance lab experiments providing support for biological hypotheses and guiding future experimental paths.
Apply insights across diseases
Focus on conditions like rheumatoid arthritis, lupus, inflammatory bowel disease, and multiple sclerosis, with potential to expand further.
This capability heralds a revolution in new medicines – discovering the molecular basis of disease working entirely in human cells to get the right drugs to the right targets to the right patients.