Translating human genetics to understand and more effectively treat disease

Regulatory Genome Complexity

The enormous scale of the genome makes interrogating disease genetics, present in every cell, a very hard problem.

Less
than

of the human genome comprises DNA sequences that encode for proteins to form the building blocks of all living organisms

97%

includes the Regulatory Genome, which performs vital biological functions by controlling the organisation and action of genes

3.3

BLN

are comprised in the human genome – the equivalent of 2 metres of DNA compacted into a single nucleus

To date, the focus of genetically informed drug discovery has been on individually identifying genes involved in disease. On their own, disease associated genetic variants do not provide much insight into the mechanisms underlying common diseases.

By taking an integrated view of the multitude of genetic variants in a disease population, it is possible to reveal the molecular networks underlying disease at a level never before possible.

Regulatory Genome Opportunity

To be effective in understanding the cellular and molecular mechanisms underlying human disease, there is a need to solve, simultaneously and at scale, a series of scientific problems that currently prevent a clear understanding of how genetic changes within the human regulatory genome lead to disease.

Sequencing of the human genome and large scale population genetics studies performed over the last quarter of a century have not been able to effectively convert human genetics into personalised medicine and guide drug development.

The ability to move beyond understanding the instructions for genes individually into multi-dimensional genome-wide context, in all cell types, will mark the next significant advance in genetics.

Nucleome: A leap forward in decoding Human Genetics

Nucleome has developed a proprietary platform comprising a suite of integrated laboratory and machine learning technologies capable of interrogating the full complexity of the regulatory genome, at base-pair level of resolution, 1000s of genes and genetic variants at a time.

The Platform offers the capability, precision and scale to define the molecular basis of disease, identify genetically validated drug targets and more accurately determine patients most likely to respond to treatment.

Nucleome’s technologies have demonstrated that integrating information from genetic variants that are dispersed across many patients within a disease population, can provide new insights. The Nucleome Platform can identify these variants even though these variants are not within any one individual.

This is a transformational advance in extracting usable knowledge of drug targets and patients from the immense wealth of genomic data accumulated over the past 25 years. It is a generalisable approach which can be applied to any disease or therapeutic need.

Explore our platform

Breakthrough science

Nucleome’s platforms brings a transformational advance in extracting usable knowledge of drug targets and patients from the immense wealth of genomic data accumulated over the past 25 years. It is a generalisable approach which can be applied to any disease or therapeutic need.

Explore our platform