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Cláudia M.B. Carvalho, PhD, is an Associate Investigator at PNRI, leading her laboratory to investigate the genetic causes of rare diseases and the biological mechanism of formation of genomic variants that impact disease expression. The overall goal of her lab research is to gain insight into the causes of human genetic diseases and to provide a working hypothesis for functional studies, biomarker and drug development that will accelerate research to cure rare genetic diseases. She earned her PhD in Biochemistry from the Federal University of Minas Gerais in Belo Horizonte, Brazil, and completed postdoctoral fellowship at the Baylor College of Medicine in Houston, Texas. Before joining PNRI, she was an Assistant Professor at Baylor for six years, where she maintains a visiting faculty appointment in the Department of Molecular and Human Genetics. She is also an affiliate faculty member with the University of Washington’s Department of Genome Sciences, and a faculty member of the Molecular & Cellular Biology Graduate Program.