Publications by authors named "Sumudu R Samarasinghe"

Cutaneous leishmaniasis is atypical in Sri Lanka because Leishmania donovani, which typically causes visceral disease, is the causative agent. The origins of recently described hybrids between L. donovani and other Leishmania spp.

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Africans are extremely underrepresented in global genomic research. African populations face high burdens of communicable and non-communicable diseases and experience widespread polypharmacy. As population-specific genetic studies are crucial to understanding unique genetic profiles and optimizing treatments to reduce medication-related complications in this diverse population, the present study aims to characterize the pharmacogenomics profile of a rural Ugandan population.

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Background: Williams Beuren Syndrome (WBS) is a well-recognized and common genetic cause of congenital heart defects, developmental delay, hypercalcemia, and characteristic facial features. It is caused by a 1.5 - 1.

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Article Synopsis
  • Population genomic studies on Indigenous peoples are scarce, comprising less than 0.5% of genetic database participants, which hinders access to personalized medicine for these communities.
  • A pharmacogenomic study on nearly 500 individuals from the Tiwi population used whole genome sequencing and found that all participants carried at least one actionable genotype, with 77% having three or more clinically significant variants.
  • Significant findings included a notably high frequency of impaired metabolism for various important pharmacogenes in the Tiwi population, which may affect the treatment and safety of several common medications, highlighting the need for tailored healthcare approaches.
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Background: Leishmaniasis is a neglected tropical disease with diverse clinical phenotypes, determined by parasite, host and vector interactions. Despite the advances in molecular biology and the availability of more Leishmania genome references in recent years, the association between parasite species and distinct clinical phenotypes remains poorly understood. We present a genomic comparison of an atypical variant of Leishmania donovani from a South Asian focus, where it mostly causes cutaneous form of leishmaniasis.

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