Assistant Professor in the Department of Psychiatry in Washington University in St Louis
Biography
My research is focused in the identification of omics factors implicated in complex neurodegenerative traits; in particular Alzheimer Disease (AD). The identification of these genomic, transcriptomic and proteomic factors, and their interplay will help us to understand the etiology of the disease; and to develop new drugs and their respective companion diagnostics. I have employed traditional biomarkers of AD (i.e. Cerebrospinal fluid Aβ and tau) to identify novel CSF biomarker. The discovery of biomarkers for AD is a key to identify individuals in the presymptomatic stage (pathology present with cognition intact) of the disease. Biomarkers can potentially be used clinically for diagnosis and to track the effectiveness of novel therapies but can also be used as endophenotypes for genetic studies leading to the identification of novel variants/genes involved in AD, and novel therapeutic targets. Although genetic studies have identified many variants involved in the aetiology of complex traits, there is a considerable fraction of the genetic variance that remains unexplained. I have incorporated independent biological information into the GWAS dataset, allowing further interpretation of sub-threshold p-values in genetic studies, and thus enabling the detection of additional signals that would otherwise be missed in statistical analyses of genome wide studies. By shifting from the evaluation of individual variants toward groups of genes related by pathway -under the commonly accepted hypothesis that causal variants are not randomly distributed across the genome, but are instead clustered among functionally-related genes- we can prioritize for further investigation those variants that do not reach the genome-wide significance threshold. This is achieved by the development, employment and amalgamation of different statistical, bioinformatics and machine learning methods to extract more biological information from genetic studies.
