Our lab uses genomics and transcriptomics approaches to study human genetic diversity and its implications in disease. Specific focus is given to studying neglected diseases and underrepresented populations in genomics.
Single-cell transcriptomics of immune system cells. The search for regulatory markers of immune system cells, particularly the natural killer (NK) cells, may lead to the discovery of novel therapeutic targets.
Sequencing of immune-related regions. We apply cutting-edge short and long-read sequencing technologies as well as State-of-the-Art bioinformatics pipelines to study the variation of complex regions of the human genome. We are particularly interested in genes encoding HLA (human leukocyte antigen) NK receptors, B cell receptors, and others.
Immunogenetics of human disease. We aim to understand genetic susceptibility to diseases and identity mechanisms that explain genetic associations. Among the diseases that we study are Pemphigus Foliaceus and Breast Cancer.
Disease mechanisms. We prioritize novel disease-associated variants to apply advanced cellular and molecular biology experimentation to assess the functional impact of genetic variation.
Human population genetics and evolution. Understanding the normal variation of immune system genes provides insights into disease susceptibility and treatment. Our goal is to increase the representation of populations systematically excluded in genomics, increasing the efforts to reduce health disparities by allowing them to benefit from genomic medicine.