Ruben Martinez-Barricarte, PhD, is Assistant Professor in the Division of Genetic Medicine and Clinical Pharmacology within the Department of Medicine at Vanderbilt University Medical Center. Since he was a PhD student, his research has focused on the genetic and immunological dissection of inborn errors of immunity (IEI). IEI are a heterogeneous group of monogenic diseases that impair the development or function of the immune system conferring susceptibility to severe infection, autoimmunity, and cancer.
From the clinical perspective, the genetic dissection of IEI allows for genetic diagnosis for patients, counseling for families, and applying preventive/personalized treatments for individuals at risk. From the basic science standpoint, studying IEI provides a platform to understand the basic mechanisms of human immunity. For the past 15 years, Dr. Martinez-Barricarte 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. He has participated in multidisciplinary projects that 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 broad immunological systems. His lab builds on these experiences to continue advancing our understanding of IEI by capitalizing on a unique cohort of patients from around the world.
The research of Dr. Martinez-Barricarte and colleagues currently focuses on (i) identifying new genetic causes of IEI in patients without a genetic diagnosis; (ii) employing state-of-the-art methodologies to gain insight into basic human immunology by studying patients with genetically defined IEI; (iii) exploiting what IEI teaches us about human immunology to design new immunotherapeutic approaches and; (iv) 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.