Charles Marques Lourenço

Charles M Lourenço is Professor of Clinical Genetics and Applied Medical Research at the Faculty of Medicine, Centro Universitario Estacio in Ribeirão Preto, São Paulo, Brazil. 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. He holds a PhD in neurogenetics, with his thesis focussing 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 focuses primarily 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. 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.

Médico geneticista; Professor Titular de Genética Médica na Faculdade de Medicina do Centro Universitario Estacio de Ribeirao Preto; Coordenador do Ambulatório de Neurogenetica e Erros Inatos do Metabolismo da Faculdade de Medicina de Sao Jose do Rio Preto (FAMERP); especialista em Genética Clínica pela Sociedade Brasileira de Genética Médica, Doutorado em Neurogenética pela Universidade de São Paulo (USP); membro da Sociedade Internacional para Estudo dos Erros Inatos do Metabolismo (SSIEM), da American Academy of Neurology (AAN) e da World Muscle Society (WMS) ; corresponding member of the American College of Medical Genetics and Genomics - areas de interessa: erros inatos do metabolismo com apresentaçao neurológica, vasculopatias geneticamente determinadas, neurolipidoses, paraparesias espásticas hereditárias, distúrbios congênitos da glicosilação, ataxias espinocerebelares hereditárias e leucodistrofias