Rapid diagnosis of previously unknown causes of infection now a clinical reality 

09/01/2015 00:00 
A team at University College London Hospitals NHS Foundation Trust (UCLH) has identified a previously unrecognised cause of brain inflammation in a severely immune-compromised patient following bone marrow transplantation.

The finding, published in Clinical Infectious Diseases, could lead to a greater number of patients with this brain infection – known as encephalitis – being diagnosed and treated where they couldn’t be previously. Encephalitis is a relatively rare but often life-threatening complication in patients with severely weakened immune systems. In the majority of cases no cause is identified and no treatments are available.

Teams at UCLH, along with their colleagues at UCL (University College London) and collaborators at the University of California, San Francisco, were able to harness the power of new DNA sequencing technologies to firstly identify viral genetic material from a biopsy from the patient, and then to deduce the identity of a previously unknown virus with notable similarities to a virus found in cows, bats and mink.

Strikingly, the patient had been unwell for a number of months and had undergone a vast array of conventional investigations that had failed to reveal the cause. The new diagnostic platform yielded an answer within 72 hours of sample receipt. This would not have been possible without the input of highly specialised bio-informatics experts who help to process and interpret the complex data.

The UCLH team then discovered that a similar virus had been isolated from a child who died of encephalitis at Great Ormond Street Hospital.

Dr Karl Peggs, Reader in Stem Cell Transplantation and Immunotherapy at UCL Cancer Institute said: “The discovery of Astrovirus UK2 highlights the advances that have been made using modern diagnostic tests based on sequencing the genetic material of patients and of infectious agents. Until recently the length of time taken to process and analyse the samples meant that the results would rarely be useful in informing the care of our most vulnerable patients.

“Once we have discovered new causes of serious infection we have the capability to devise much simpler and cheaper tests to apply in other patients. These will help to establish the size of the problem and to direct attempts to improve treatment and outcome. Previously we were working in the dark. Now there is one less known unknown.”

The hope is that this technique will become a standard platform in difficult cases when patients are thought to have an infection but no cause can be found.

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