Buruli ulcer – Family-Based Whole Exosome Sequencing (FamBasedBU-WES)

Buruli Ulcer (BU) is a neglected infectious disease responsible for massive necrotic skin lesions. BU is the third most common mycobacteriosis worldwide, with higher incidence rates reported in poor-income countries of Africa, of which over 50% of patients are children. For these reasons, risk stratification, prevention, early detection and treatment of BU are health and socioeconomical emergencies. However, research on BU has been hampered by our lack of understanding of the nature of protective immunity.
Our research group has already determined some relevant genetic coding variants associated to the expressing/progression of BU in case-control based studies. Taking advantage of unique cohorts of families/patients, now we intend to use state-of-the-art technologies – using Whole Exome Sequencing – to better understand which determinant factors impact the progression of BU. This project will contribute to the identification of new genetic coding variants that can help predict BU development or lesion severity; as well as immunological pathways that can be potentially modulated to confer an effective protective response against this neglected disease.

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S. Queirós, “Right ventricular segmentation in multi-view cardiac MRI using a unified U-net model”, in E. Puyol Antón et al. (eds) Statistical Atlases and Computational Models of the Heart. Multi-Disease, Multi-View, and Multi-Center Right Ventricular Segmentation in Cardiac MRI Challenge. STACOM 2021. Lecture Notes in Computer Science, vol 13131, pp. 287-295, Springer, Cham, 2022.

“Best Paper Award in the M&Ms-2 Challenge”, by M&Ms2 Challenge organizers and the Medical Image Computing and Computer Assisted Intervention (MICCAI) Society.