PONENTES DEL EVENTO

Daniela Giovannetti

Médico Genetista, con maestría en ciencias y especialidad en Errores Innatos del Metabolismo 
Fue Profesor en Genética Médica y responsable de la clínica de Fenilcetonuria y Tamiz Neonatal en la Universidad Estadual de Campinas, Brasil 
Tiene 13 años de experiencia en BioMarin Pharmaceutical, actualmente desempeñándose como Líder Médico Global de Enfermedades de Depósito Lisosomal

Charles Marques
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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.

Jessica Cohen
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Executive Medical Director, Global Medical Affairs

BioMarin Pharmaceutical Inc.

 

Jessica received her Medical Degree at the Universidad Central de Venezuela in 2001, she continued on with her training in the U.S. pursuing a residency in Pediatrics at Miami Children’s Hospital and subspecializing in Clinical and Biochemical Genetics at Mount Sinai School of Medicine in New York where she went on to stay as an attending physician. As an Assistant Professor at Mount Sinai, Jessica was an attending physician for the Program for Inherited Metabolic Diseases at Mount Sinai Medical Center taking care of patients with a wide range of genetic and metabolic disorders.

 

Jessica joined BioMarin in early 2012 as the medical affairs director leading the PKU franchise. She worked in developing the evidence of long-term treatment of sapropterin from the PKUDOS registry as well as medical affairs lead for pegvaliase until 2015. Since then Jessica has worked with multiple diseases and programs. Jessica worked as the Global and North American medical affairs lead for the cerliponase alfa program, an innovative therapy for the treatment of children with CLN2 disease, a form of Batten disease. She led the successful launch in the United States.

 

In 2017 Jessica became the Head of Medical Affairs North America. She leads the medical science team comprised of medical doctors and medical science liaisons responsible for all approved and pipeline products in the United States and Canada. 

Matilde Ruiz

•Medico Cirujano  por la Universidad Autónoma de México.

•Pediatra y neurólogo Pediatra  por el Instituto Nacional de Pediatría Ciudad de México y UNAM

•Jefe de Servicio y Profesor de Neurología Pediátrica en el Instituto Nacional de Pediatría

•Investigadora en epilepsia, enfermedades metabólicas, TDAH

•Publicaciones 50 artículos, 4 libros.