Platform

Harnessing technology for the next leap forward in genetics

Key benefits of our platform

Nucleome’s powerful platform generates actionable insights that address critical challenges in drug discovery and development. By uncovering the link between genetic mechanisms and disease, Nucleome’s technology accelerates the identification of novel targets and precision medicines.
Elucidate disease mechanisms
Understand genome-wide patterns of gene expression to reveal what goes wrong in biology 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 and whole genome sequences to identify genetic markers and patient subgroups.
Construct therapeutic maps
Map genetic interactions to link disease-associated variants with gene regulation, enabling targeted drug development.
Leverage machine learning for speed and scale
Use AI-driven technologies to replicate and enhance lab experiments, decoding complex 3D genomic interactions.
Apply insights across diseases
Focus on conditions like rheumatoid arthritis, lupus, inflammatory bowel disease, and multiple sclerosis, with potential to expand further.

The Nucleome Platform

The Nucleome 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 interpret single nucleotide polymorphisms (SNPs) – common genetic variations among people, and whole genome data (GWAS), to reveal the molecular underpinning of disease. This unique approach identifies which genes are regulated by which SNPs, in which cell types.

Core Platform technologies
Identification of functional SNPs by cell type
3D genome confirmation capture linking SNPs to genes 
Functional verification of the effect of a variant on gene expression 

The Platform decodes the regulatory genome to create a picture of the mechanisms underlying disease susceptibility  by understanding which genes are effected in which cell type. The power of the Platform is its ability to integrate information across the genome, not simply study an individual genes.  
 
This unique understanding is then used to relate relevant proteins to disease in mechanistically defined subgroups and identify promising drug targets. Those targets are then experimentally tested. Validated targets are advanced to Nucleome’s pre-clinical pipeline to undergo further validation.

Answering previously impossible questions

Via its unique combination of machine learning and experimental techniques Nucleome can analyse the immense data resource created by over 25 years of population studies and next generation sequencing to unravel the molecular basis of diseases. 

By interrogating whole genome sequences from patients with a wide range of diseases, and millions of genetic variants associated with thousands of diseases in genome-wide associated studies (GWAS), Nucleome can reveal the answers to some previously impenetrable, critically important, genetic questions:

Which genetic variant, among many in a region of DNA, is likely to have a functional effect?
Which variants are functional in which cell?
Which gene does the variant control?
What disease mechanisms and patient subgroups can be identified by the Integrative analysis of patient whole genome sequences?

From Gene Regulation to Pharmacology

By answering fundamental questions to understand how the genome regulates function, Nucleome can define the patterns of gene expression that modulate disease. This enables Nucleome to:

Understand, genome-wide, what goes biologically wrong when humans develop disease– the link between disease and mechanism
Integrate disease associated variants and patient genome sequences to construct therapeutic maps. This allows the stratification of patients according to the molecular characteristics of their disease and identify genetic markers 
Identify new druggable targets and genetically validate existing targets
Machine learning capabilities to replicate lab experimentation in decoding 3-D interactions between enhancers and promoters in the regulatory genome

With the ability to move from gene regulation knowledge to pharmacology with speed and scale, Nucleome’s technology has the potential to enable transformational advances in drug discovery

Translating human genetics

Passionate about developing precision
medicines for complex diseases

Breakthrough Science