Carlos Ferreira

Carlos R. Ferreira, M.D. is a native of Paraguay, went to medical school at the National University of Asunción, completed an Internal Medicine residency at Rush University Medical Center in Chicago, Illinois, and a fellowship in Clinical Genetics at the National Human Genome Research Institute (NHGRI) and Johns Hopkins Hospital Medical Genetics consortium. He later pursued a subspecialty in medical biochemical genetics at NHGRI. He specializes in genetic disorders of bone development and inborn errors of metabolism. Dr. Ferreira participates as faculty in the annual North American Metabolic Academy (NAMA) course, and in the Annual Introductory Course on Skeletal Dysplasias in Lausanne, Switzerland. He has authored over 100 indexed publications, one of which received the Emmanuel Shapira Award (bestowed to be the best paper published in Molecular Genetics and Metabolism). Dr. Ferreira serves as an editor or board member for three biomedical journals, as co-chair of the Skeletal Disorders Clinical Domain Working Group, and as co-chair of the Skeletal Disorders Gene Curation Expert Panel of the Clinical Genome Resource (ClinGen), whose purpose is to create an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research. He currently heads NHGRI’s Skeletal Genomics Unit, which focuses on using a translational research approach to understand the etiology, pathophysiology, diagnosis, and management of a select group of genetic skeletal disorders.