Dr Carlos R. Ferreira,

is board-certified in Internal Medicine, Medical Genetics, and Clinical Biochemical Genetics, and specializes in genetic disorders of bone development and inborn errors of metabolism.

He led a team of researchers that elucidated the molecular defect underlying Saul-Wilson syndrome, a rare disorder of vesicular trafficking leading to skeletal dysplasia.

He contributed to the finding of disturbed tryptophan catabolism as a new etiology of Catel-Manzke syndrome, and to finding the cause of a rare hematologic disorder, combined alpha-delta platelet storage pool deficiency. He was part of several collaborations that led to the discovery of novel genetic disorders, including a primary CoQ10 biosynthetic defect, a genetic form of renal Fanconi syndrome due to GATM aggregates, a rare neuromuscular defect (Carey-Fineman-Ziter syndrome), a novel neurodegenerative condition (TRAK1 deficiency), and a skeletal dysplasia in the dysosteosclerosis-Pyle disease spectrum.

Dr. Ferreira participates as faculty in the annual North American Metabolic Academy (NAMA) course. He has authored more than 90 indexed publications, one of which recently received the Emmanuel Shapira Award (bestowed to the best paper published in Molecular Genetics and Metabolism).