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Carlos Ferreira

Carlos Ferreira

Clinician, National Human Genome Research Institute
Dr. Carlos Ferreira went to medical school at the National University of Asunción, completed an Internal Medicine residency at Rush University Medical Center in Chicago (2009-2012), a fellowship in Clinical Genetics at the NHGRI and Johns Hopkins Hospital Medical Genetics consortium (2012-2014), and a subspecialty in medical biochemical genetics at NHGRI (2015). From 2015 to 2018, he worked as an attending physician in the Division of Genetics and Metabolism at Children's National Medical Center. In 2019, he became an appointee of the Physician-Scientist Development Program at NHGRI.

Dr. Ferreira serves as an editor or board member for three biomedical journals, and participates as faculty in the prestigious annual course on skeletal dysplasias in Lausanne, Switzerland, and in the Society for Inherited Metabolic Disorders North American Metabolic Academy (SIMD NAMA). He also teaches the MEDI 507 course on Inborn Errors of Metabolism offered by the Foundation for Advanced Education in the Sciences (FAES), and in 2019 was awarded the Exceptional Didactic Teaching Award bestowed by genetics trainees. Dr. Ferreira serves as co-chair of the Skeletal Disorders Clinical Domain Working Group, and 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 led a team of researchers that elucidated the molecular defect underlying Saul-Wilson syndrome, a rare skeletal dysplasia, and the genetic basis of Catel-Manzke-like syndrome, another rare constitutional disorder of bone development. In 2019, Dr. Ferreira received the Emmanuel Shapira Award bestowed to the best paper published in Molecular Genetics and Metabolism.