10 Questions Science: Detection of diseases before symptoms arise

In this paper a validated gene regulatory network of T cell differentiation was constructed in order to identify potential early regulators of T cell associated diseases.

What is the reference for the publication?

Gustafsson et al., Sci Transl Med. 2015 Nov 11;7(313):313ra178

What is your name, expertise, position and affiliation?

My name is Mikael Benson, I am a professor of pediatrics and systems medicine at the Centre for Individualised Medicine, Linköping University, Sweden.

What is the general problem being addressed by this particular work?

Lack of treatment response because of late diagnosis.

Why do you feel passionate about this publication?

Because it shows how diseases can be potentially be diagnosed early, even before symptoms, using a systems medical approach. Ideally, this will contribute to health care becoming more preventative (see graphic for a study outline; radio interview in German).

What is the challenge being addressed? 

A large number of patients do not respond to treatment. An important reason is that treatment is started late in the disease processes, when symptoms occur. T cells constantly patrol the body to detect and combat disease. They therefore have diagnostic potential, to detect disease early, even before symptoms.

What is the main result?

A strategy to identify early regulators and potential diagnostic markers for early disease detection, even before symptoms.

What methodology and/or technology was used?

We combined mathematical modelling of time series expression profiling of differentiating T cells to construct a gene regulatory network. This was validated by chip-seq, siRNA mediated knockdowns + expression profiling as well as clinical studies.

What was crucial for the success of this work?

A validated gene regulatory network for T cell differentiation to identify early regulators of T cell associated diseases.

What is the breakthrough or advance coming from this work?

A strategy to identify early regulators and potential diagnostic markers for early disease detection, even before symptoms.

What are the consequences of this work in a more general context?

This may contribute to shifting medical care to becoming more preventative. Medical care is focusing on more or less advanced treatment of established diseases, which is late in disease processes. Our strategy may contribute to a shift towards early and preventative diagnostics and treatment.