Charles M Lourenço, Professor of Neurogenetics and Biochemical Genetics - Faculdade de Medicina de São José do Rio Preto (FAMERP), São José do Rio Preto - São Paulo, Brazil

Dr. Charles M. Lourenço is a Professor of Clinical Genetics and Hereditary Metabolic Disorders in the Neurogenetics Unit - Inborn Errors of Metabolism Clinics at the National Reference Center for Rare Diseases, Faculty of Medicine of São José do Rio Preto.

He is the coordinator of the Inborn Errors of Metabolism and Neurogenetics Outpatient Clinics of the Hospital de Base and Hospital Materno-Infantil at Faculty of Medicine of São José do Rio Preto, where he is also a member of the Lysosomal Unit, being involved in the care of patients with lysosomal storage disorders. He is also the consultant clinical geneticist at National Reference Center for Rare Diseases in the same university.

Dr Lourenço is a clinical biochemical geneticist with a special interest in genetic neurodegenerative disorders. He obtained his Medical Degree at the Federal University of Bahia, Brazil, in 2002, and underwent postgraduate training in medical genetics and then neurogenetics at the Clinical Hospital of the State University of São Paulo, and then the Hospital of Ribeirão Preto, University of São Paulo.
Professor Lourenço holds a PhD in neurogenetics and his PhD thesis focused on spinocerebellar ataxia of early onset, especially on a subset of patients with ataxia and hypogonadism. Most recently, he has been involved in a new multidisciplinary clinic at his hospital, which mainly focuses on investigation of childhood neurodegenerative disorders, and in particular patients with early-onset cerebellar ataxia and genetic white matter disorders.

Dr Lourenço’s interests include the clinical and molecular aspects of leukodystrophies, hereditary spastic parapareses, metabolic causes of neonatal cholestasis, hereditary spinocerebellar ataxias, genetic epileptic encephalopathies, lysosomal disorders of the brain (neurolipidoses) and inborn errors of metabolism with adult presentation.

Most recently, he has been involved in a new multidisciplinary clinic at Faculdade de Medicina de São José do Rio Preto (FAMERP), which focuses primarily on investigation of childhood neurodegenerative disorders and, in particular, patients with early-onset cerebellar ataxia and genetic white matter disorders.
Dr Lourenço is a member of many professional societies, including the Brazilian Clinical Genetics Society, the American Society of Human Genetics, the International Skeletal Dysplasia Society, the Society for the Study of Inborn Errors of Metabolism, and the Latin American Society of Inborn Errors of Metabolism and Newborn Screening. He has published extensively in journals and books, and serves as a peer reviewer for Neurology Genetics and the Journal of Inherited Metabolic Disease.
Dr Lourenço is also Medical Consultant in Specialized Education at DLE/Grupo Pardini, in Personalized Medicine area producing online content regarding hereditary metabolic disorders for experts and non experts in the field