> Ferran CasalsPost Doctoral Researcher At the Awadalla’s lab, we are implementing short-read sequencing technologies and their analyses bioinformatics tools, and developing different projects by sequencing several complete genomes, exomes or transcriptomes in humans. My main current projects are related to the analysis of human variation in the context of understanding the genetic etiology of complex and rare diseases. We have applied population genetics tools to the study of complex diseases such as autism or schizophrenia, and showed that rare variants play an important role at the origin of these diseases. We are also performing whole exome and transcriptome sequencing in families with patients with primary immunodeficiencies, a heterogeneous group of disorders with defects in one or more components of the immune system. > Research projectsPopulation genetics approaches to map disease genes.Medical genomics of primary immunodeficiencies.
|
I did my PhD at Alfredo Ruiz’s lab (Universitat Autònoma de Barcelona) mainly working in chromosome evolution in Drosophila. During this period, I focused my research on the analysis of the fixation rates of chromosomal rearrangements, the molecular mechanisms underlying the generation of chromosomal inversions and, as a result of the findings, the molecular characterization and evolutionary history of transposable elements. I finished my PhD in 2003, and in June 2004 I started my first postdoc at the Evolutionary Biology Unit at the Universitat Pompeu Fabra, in Barcelona. We worked on the analysis of variability patterns in human populations. Both from genotyping and resequencing data, we were interested in describing the evolutionary forces acting on some categories of genes, mainly those involved in host-pathogen interactions. We performed a systems biology approach to describe how gene networks, in particular the innate immunity human system, have responded to the environmental selection pressures.