In the Realm of Genetic Epidemiology of Malaria: from Human Association Studies to Copy Number Variation in the Plasmodium Parasite Genome


  • Prof. Nuno Sepúlveda – London School of Hygiene and Tropical Medicine, UK / CEAUL
  • FCUL – Bloco C6 Piso 4 – Sala 6.4.31 – Campo Grande – 14:30h
  • Quarta-feira, 6 de Março de 2013
  • Referência Projeto: PEst-OE/MAT/UI0006/2011




Genetic epidemiology of Malaria aims assessing the genetic risk of a given population towards the disease. Strictly speaking, this risk comes from the set of human genetic variants being transmitted across the population. For example, mutations in the sickle-cell gene show the strongest effect on Malaria resistance across Africa. In a broader sense, one can also add in the set of parasite genes affecting anti-malarial drug resistance. With the advent of next generation sequencing technology, strong research efforts have been made in collecting and compiling genomic and genetic information from the human host and Plasmodium parasites in order to obtain a full picture of the underlying genetic epidemiology. Alongside, new statistical and computational challenges have arisen, specifically, when analyzing the data of the Plasmodium falciparum genome. This talk aims to review putative solutions for some of these challenges, specifically, how one can boost up association signals in the human genetic studies and how one can robustly identify copy number variation in the Plasmodium falciparum genome.

(in collaboration with Taane Clark (LSHTM), Chris Drakeley (LSHTM) and Valentina Mangano (University of Rome ‘La Sapienza’)