Ana Maria Martins is a clinical geneticist, Director of the Reference Center in Inborn Errors of Metabolism in São Paulo, Brazil, and Adjunct Professor at the Federal University of São Paulo. She obtained her MD in 1979 at the University of Taubaté, Brazil. Residency in Paediatrics from 1980 and 1981, training in medical genetics from1982 to 1987. Was the head for the phenylketonuria outpatient clinic from 1982 to 1988 at APAE-SP (Association of Parents and Friends of the Exceptional (Intellectual disability) of São Paulo). MSc and PhD in Paediatrics and Applied Sciences in Paediatrics at that university in 1985 and 1987. After completing two Genetics post-doctorates at the University of Pittsburgh in 1989 and the University of California in 1990, she obtained her Clinical Genetics board certification at the Brazilian Medical Genetics Society in 1993.