Leiden University Scholarly Publications

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Tio Coma, M. (2021)

Exploring host and pathogen biomarkers for leprosy

Doctoral Thesis
Leprosy is a multifactorial chronic disease caused by Mycobacterium leprae or Mycobacterium lepromatosis that affects the skin and nerves. More than 200.000 new cases are diagnosed per year; thus, transmission is still ongoing. The most likely way of transmission is the respiratory route form human-to-human; however, transmission is still not clearly understood. Early diagnosis of leprosy is crucial to reduce and avoid transmission as well as leprosy-associated disabilities, which are also a cause of stigma. Currently, diagnosis is performed based on clinical signs and symptoms and late- or mis-diagnosis are not uncommon.
In this thesis, we combined the study of pathogen transmission with host transcriptomic and genomic biomarkers. To explore M. leprae transmission a One Health approach was followed, where human, animal and environmental samples were studied.
The combination of demographic characteristics, pathogen detection, genetic and/or transcriptomic biomarkers can be...Show moreLeprosy is a multifactorial chronic disease caused by Mycobacterium leprae or Mycobacterium lepromatosis that affects the skin and nerves. More than 200.000 new cases are diagnosed per year; thus, transmission is still ongoing. The most likely way of transmission is the respiratory route form human-to-human; however, transmission is still not clearly understood. Early diagnosis of leprosy is crucial to reduce and avoid transmission as well as leprosy-associated disabilities, which are also a cause of stigma. Currently, diagnosis is performed based on clinical signs and symptoms and late- or mis-diagnosis are not uncommon.
In this thesis, we combined the study of pathogen transmission with host transcriptomic and genomic biomarkers. To explore M. leprae transmission a One Health approach was followed, where human, animal and environmental samples were studied.
The combination of demographic characteristics, pathogen detection, genetic and/or transcriptomic biomarkers can be applied in a multifactorial leprosy signature applicable for early diagnosis of leprosy and/or to guide intervention strategies. Identification of predictive biomarkers will in due course lead to prompt treatment, preventing leprosy-associated irreversible disabilities as well as reducing M. leprae transmission.
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Biomarkers
Leprosy
Transmission
One Health
Mycobacterium leprae
Diagnostics
Transcriptomics
All authors
Tio Coma, M.
Supervisor
Geluk, A.; Richardus, J.H.
Committee
Goeman, J.J.; Slagboom, P.; Hokke, C.H.; Mira, M.T.; Avanzi, C.
Qualification
Doctor (dr.)
Awarding Institution
Faculty of Medicine, Leiden University Medical Center [LUMC], Leiden University
Date
2021-10-28

Funding

Sponsorship
Q.M. Gastmann-Wichers Foundation, R2STOP research grant from effect:hope together with the Mission to End Leprosy, the Order of Malta-Grants-for-Leprosy-Research (MALTALEP), the Netherlands Leprosy Relief Foundation and the Leprosy Research Initiative, both together with the Turing Foundation.