Claudia Gonzaga-Jauregui grew up in Mexico where she did her undergraduate studies in Genomic Sciences (Licenciatura en Ciencias Genómicas, LCG) at the National Autonomous University of Mexico. She obtained her Ph.D. in Molecular and Human Genetics from Baylor College of Medicine, where she contributed to large population genomic studies such as HapMap 3 and pioneered the analyses of genomic sequencing data for the identification of disease genes and molecular diagnoses. Since then her research has focused on the investigation of human pathogenic and polymorphic genomic variation that contributes to human traits and diseases.
Her research focuses on family-based analyses of rare and common genetic disorders to identify pathogenic variation and novel genes associated with disease to better understand the molecular architectures and pathophysiology of genetic disorders. Gonzaga-Jauregui believes that the application and understanding of human genetics and genomics can lead to improved treatments and the realization of precision genomic medicine. Because the beginning of precision medicine is an accurate genetic diagnosis, Gonzaga-Jauregui has dedicated a great part of her career to the study and identification of novel genes responsible for rare genetic disorders to provide molecular answers to patients with undiagnosed diseases. She has co-authored and co-edited the first textbook focused on the application of genomic approaches to the study of rare genetic diseases.
