I have a long and wide expertise in the field of genetics that goes back to 2005 when I performed my first population genetic studies using microsatellite data. As graduate student, I explored different techniques, Sanger sequencing and short sequence repeats, and I gained a deep understanding on the field of population genetics and phylogeography. After my PhD, I became interested in neurodegeneration and so I took a research gap year to educate myself in the fields of NGS and its applications which led to an internship as research assistant at Fundacio ACE (Barcelona, Spain). Here, I had the opportunity to learn about Alzheimer disease (AD) from a multidisciplinary team of physicians and scientists while I became involved in a multi-center European project that used whole exome sequencing (WES) to identify novel variants associated with AD risk.
Currently, as postdoctoral researcher at Washington University School of Medicine (St Louis, MO, USA), I have continued studying AD genetics using WES data from families highly affected by the disease. We have identified novel candidate genes and we would like to investigate their possible role in AD pathology. Initially, I want to explore the candidate genes in transcriptomic data and functionally evaluate those using iPSC-derived neurons and microglia. Eventually, I want to make use of the novel omic technologies, namely genomics, transcriptomics, proteomics and epigenomics, as well as latest advances in molecular and cell biology, using iPSC and 3D models, to interrogate these genes in a detailed and holistic manner.