Diagnosing Brain Infections with Genome Sequencing

Hopkins researchers explore the utility of genome sequencing in neuropathology.

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Carlos Pardo-Villamizar
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Steven Salzberg

In today’s clinical practice, a substantial percentage of brain infections elude diagnosis through standard procedures. In the absence of a confirmed diagnosis, affected patients can receive suboptimal treatment for their neurological illness despite their clinician’s best efforts.

To combat this, two Hopkins researchers are testing a novel, sequencing-based diagnostic approach they believe will reduce the percentage of undiagnosed brain infections. In this new approach, neurologist Carlos Pardo-Villamizar and Steven Salzberg, professor of biomedical engineering, are sequencing the tissue specimens of neurology patients with undiagnosed infections. Computational methods are then used to compare – and ideally match - the DNA fragments present in each patient’s sample with the thousands of known bacterial, viral, and fungal DNA sequences contained in genome databases. A positive identification of the infecting pathogen could help guide that patient’s treatment course, avoiding expensive non-specific treatments and improving outcomes.

If this new approach proves successful, the hope is that it can be developed into a standard procedure that becomes a part of routine clinical care for patients with undiagnosed brain infections. In bringing the gene sequencing revolution to the diagnosis of brain infections, Drs. Salzberg and Pardo-Villamizar are laying the groundwork for improved understanding and treatment of neurological disorders at Hopkins and beyond.

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