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Molecular Pathology

What is molecular pathology?

Molecular pathology is a discipline that seeks to describe and understand the origins and mechanisms of disease at the level of macromolecules (for example DNA, RNA and protein) largely using patient samples.

Individual diseases are defined based on a common set of signs and symptoms as well as diagnostic tests. However, these shared signs and symptoms can arise from a variety of disruptions to underlying mechanisms. 

For example, patients with type I and type II diabetes both present with high blood sugar levels over a prolonged period. However, this common presentation has different causes; Type 1 diabetes results from the body's failure to produce enough insulin and Type 2 diabetes from cells failing to respond properly to insulin. This means that not everyone who is classified with the same disease will necessarily experience the same rate of disease progression or respond equally well to the same drugs. 

By classifying and understanding the molecular differences between the different groups or strata of people with a shared condition we hope to more accurately diagnose them, better understand how their conditions will progress, and determine which treatments are most likely to be effective. The improved stratification of patients therefore has the potential to deliver significant health and economic benefits.

The UK’s response

In recognition of the potential benefits offered by stratification, UK Government and charity funders including ourselves, Innovate UK, the National Institute for Health Research (NIHR), Cancer Research UK (CRUK) and Arthritis Research UK (ARUK) have collectively invested around £200m in the area, coordinated via the Stratified Medicine Innovation Platform (SMIP).

If the UK is to benefit from this substantial investment and capture the full potential of stratified medicine, it is critical to ensure that there are robust pathways and capabilities to develop and adopt the new diagnostic tests and therapeutic strategies that it will give rise to, as identified in the Academy of Medical Sciences (AMS) 2013 report on Realising the potential of stratified medicine.