Gene Discovery
Genetic disorders are due to changes in the chromosomal structure and number (Genomic disorders), or in single genes (Mendelian or simple disorders). Although several thousands of genes that play a role in Mendelian disorders have been identified, a substantial number of disorders and their related genes remain unexplored. Our laboratory is using genomic approaches to identify genes that are involved in Mendelian disorders with the aim of delineating pathways and mechanisms of human growth and development and homeostasis.
COVID-19 Host Genetics
SARS-CoV-2 infection (COVID-19), is a potentially fatal disease that constitutes a global public health threat. It affects multiple systems and produces an array of symptoms and complications. There are notable discrepancies in the susceptibility to the infection, clinical presentation, course, post- acute complications and outcome among patients across age groups and ethnic backgrounds. Common and rare genetic factors are shown to be associated with severe and life-threatening infections. Our laboratory conducts studies that aim to identify host genetic determinants in COVID-19 that play a role in the etiology of these discrepancies utilizing a genomic approach and pairing it with the deep phenotyping. Our focus is on children who develop multisystem inflammatory syndrome (MIS-C), but we study other sub-phenotypes, as well.