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Genetic markers for the diagnosis of tuberculosis caused by Mycobacterium tuberculosis

Dr Syed Rahman, European Bioinformatics Institute



According to the current Global Tuberculosis Report 2017 of the WHO, Tuberculosis (TB) is the ninth leading cause of death worldwide. In 2016, an estimated number of 1.6 million people died from TB. It has been known for several years that most deaths from TB could be prevented with early diagnosis following the appropriate treatment. Nevertheless, the pipelines for novel diagnostics for TB are progressing slowly leaving large gaps in TB detection. The TB diagnostics currently in the market are often time intensive (days/weeks) or high in cost and require special equipment and therefore failed to close this gap until now. We present a DNA sequence-based approach for the simple, fast and reliable detection of Mycobacterium tuberculosis with standard laboratory equipment.


Scientists of the European Bioinformatics Institute (EMBL-EBI) employed a sophisticated bioinformatics approach which identified four signature sequences in Mycobacterium. Two of the signature sequences are unique to Mycobacterium tuberculosis. The size of the sequences ranges between 300 and 800 base pairs making them perfectly suitable for PCR amplification from patient samples. Both, blood and sputum have been shown to be valid sample types with a detection level of 100pg of DNA. Therefore, the detection of pulmonary and extrapulmonary TB is possible with the same test. These properties, and the fact that PCR know-how and equipment are available in hospitals around the globe, show the potential of the technology to be developed into a fast, reliable, easy accessible and cost-effective diagnostic for tuberculosis caused by Mycobacterium tuberculosis.

Commercial Opportunity

We are seeking a partner who would clinically validate or (co-)fund the clinical validation of the sequences. And/or someone who has the capability and commitment to turn the technology into a successful product for the tuberculosis diagnostic/clinical microbiology market. We offer licensing opportunities as well as access to know-how, protocols and materials.

Development Status

The technology has been shown to detect Mycobacterium tuberculosis in both, blood and sputum samples with a detection level of 100pg DNA.

Patent Situation

WO2015/083056 A2

Further Reading