Degree in Biological Sciences from the Federal University of Rio Grande do Sul (1986), M.Sc. degree in Biological Sciences (Biochemistry) from the Federal University of Rio Grande do Sul (1990) and PhD in Genetics and Molecular Biology - University College London (1996). I am a molecular biologist and researcher at the Molecular Genetics Laboratory of the Medical Genetics Service (SGM)/Hospital de Clínicas de Porto Alegre (HCPA). Currently , I am the Head of the Laboratory Genetics Unit (UGL) of SGM. I have been a member of the Research and Ethics Committee in Health of this Institution, and a permanent professor at the PPG in Medical Sciences: Medicine (PPGCM) and PPG in Child and Adolescent Health (PPGSCA) at the Federal University of Rio Grande do Sul. I was also "ad hoc" consultant for Research Funding Agencies. I have know how in Genetics, with emphasis on Human and Medical Genetics and Molecular Biology, working mainly on the molecular aspects and genotype-phenotype relationship of genetic diseases of familial inheritance.