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Molecular pathology – what’s that all about then?

Today we announced that, along with the EPSRC, we’re putting £16m into six molecular pathology ‘nodes’ across the country. But you’re not alone if you’re wondering exactly what molecular pathology – or a molecular pathology node – is. Here MRC Programme Manager Dr Jonathan Pearce explains that the aim is to get new diagnostics into the NHS so that we can better spot and treat disease.

Molecular pathology seeks to describe and understand disease at the level of macromolecules (Image:  ynse on Flickr under  CC BY-SA 2.0)

Molecular pathology seeks to describe and understand disease at the level of macromolecules (Image: ynse on Flickr under CC BY-SA 2.0)

Pathology… Isn’t that doing autopsies?

Forensic pathology is just one part of pathology. Pathology actually means the study of disease, and most pathologists spend their time analysing clinical samples such as blood, urine and tissue to either diagnose disease or to understand how diseases develop and progress.

So, what exactly do you mean by molecular pathology?

Historically, pathology has sought to understand disease by looking for differences at the level of tissues and cells.

Molecular pathology is different in that it seeks to describe and understand disease at the level of macromolecules (for example DNA, RNA and protein) and in some cases at an even smaller scale.

Why will this help?

We diagnose diseases by looking at signs and symptoms in patients and by using diagnostic tests. But it’s possible that symptoms and tests can give the same answers for different diseases, or for subsets of the same disease that are caused by different underlying problems.

For example, type 1 and type 2 diabetes have similar symptoms and both result in elevated blood sugar levels. But the causes of this symptom are different, and must be treated in different ways.

By understanding and classifying the molecular differences between the different groups 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 for them.

To do this we need new diagnostic tests, both for research and for diagnosing people in the clinic. We’re aiming to make the UK the best place to do this molecular pathology research, and to deliver these new tests in the NHS.

What have you done about this so far?

We published a review in 2014 on the state of molecular pathology in the UK and made recommendations about how to increase and speed up the development of new diagnostic tests.

One of the outcomes is that we got together with the EPSRC to establish the six molecular pathology nodes that we’re announcing today. Together we’re spending £16m – £13.7m from the MRC and £2.3m from the EPSRC – to establish the nodes and run them for at least three years.

Nodes?

Yes. We called them nodes to reflect that they are the key points of a distributed network across the country. Each of the nodes brings together local expertise in molecular pathology and other disciplines and people from academia, the NHS and industry.

It’s only by bringing lots of different partners together like this ― to fuse biomedical, clinical, engineering and physical sciences ― that we’ll be able to ensure that new diagnostics can move rapidly into use in the clinic.

And what kinds of things will they be doing?

Two examples spring to mind. At the Edinburgh-St Andrews Consortium for Molecular Pathology, Informatics and Genome Sciences, a new research Master’s programme will be established to train a new generation of researchers in developing new ways to analyse and interpret genomic and epigenomic information for clinical use.

They will also develop ‘liquid biopsies’ for managing cancer using genetic and epigenetic analysis of both tumour cells and tumour DNA circulating in the blood. They will combine this with state-of-the art digital imaging, image analysis and spectroscopy of tumours to provide more precise diagnoses and predictive stratification, grouping patients into specific disease subsets, for patient management.

The East Midlands Breathomics Pathology Node, linked to the Universities of Leicester and Loughborough and the University Hospitals of Leicester NHS Trust, will pursue research in the emerging field of ‘breathomics’. Instead of blood, urine or biopsy, breathomics, unsurprisingly, uses exhaled breath as diagnostic samples.

Exhaled breath contains volatile organic compounds (VOCs) that reflect biological processes occurring within the lung and even more distant organs. Through the application of new sensing technologies, analysing these compounds could form quick, non-invasive tests for a range of conditions including respiratory infections, cancers, respiratory disease such as asthma and chronic obstructive pulmonary disease, and cardiovascular disorders such as heart failure.

Jonathan Pearce

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