Assistant Professor of Medicine
Genetic Medicine

Assistant Professor of Medicine, Division of Genetic Medicine

Professional Bio

Ruben Martinez-Barricarte, PhD, is an Assistant Professor of Medicine within the Department of Medicine’s Division of Genetic Medicine, with a secondary appointment in the Department of Pathology, Microbiology and Immunology’s Division of Molecular Pathogenesis.
Since completing his PhD in Molecular Biology from Complutense University of Madrid, Dr. Martinez-Barricarte’s research has focused on the genetic and immunological dissection of inborn errors of immunity (IEI), a heterogeneous group of monogenic diseases that impair the development or function of the immune system conferring susceptibility to severe infection, autoimmunity, and cancer. For the past 15 years, he has used a multidisciplinary approach, including biochemistry, bioinformatics, human genetics, molecular biology, multi-omics, and immunology, to identify and functionally characterize inborn errors of immunity in patients with severe infections or autoinflammatory manifestations. His research has led to the discovery and in-depth functional characterization of numerous genetic diseases. As a result, he has participated in multidisciplinary projects that have led to the resolution of protein structures, algorithms for assessing the genetic risk of diseases, methods for analyzing next-generation sequencing data, and new molecular biology methodologies. These unique research experiences have provided him with a broad spectrum of techniques and expertise to successfully identify and functionally characterize genetic variants in many diverse immunological systems. The Martinez-Barricarte Lab builds on these experiences to continue advancing the understanding of IEI by capitalizing on a unique cohort of patients from around the world. Current research focuses on identifying new genetic causes of IEI in patients without a genetic diagnosis; employing state-of-the-art methodologies to gain insight into basic human immunology by studying patients with genetically defined IEI; exploiting what IEI teaches us about human immunology to design new immunotherapeutic approaches and; and studying as monogenic IEI, infectious diseases (nocardiosis and endemic mycosis) caused by weakly virulent pathogens that cause diseases in a small fraction of exposed individuals.


MS - Biology - Complutense University of Madrid - 2008
PhD - Molecular Biology - Complutense University of Madrid - 2011
Fellowship - Human Genetics of Infectious Diseases - The Rockefeller University - 2017