Dafne DG Horovitz, MD, PhD, is a clinical geneticist and pediatrician at the National Institute of Women, Children and Adolescent Health Fernandes Figueira / Fiocruz in Rio de Janeiro, Brazil. Her work involves genetic counselling, birth defects, prenatal diagnosis, chromosomal abnormalities, new treatments for genetic diseases, and public health policies in genetics. Dr Horovitz is a professor in the post-graduation programs of Public Health and Applied Research and is also involved in the medical residency program for Medical Genetics. She has been involved in treating lysosomal storage disorders for the past 16 years and has implemented and currently coordinates the hospital’s enzyme replacement therapy unit. Dr Horovitz has been on the board of directors of the Brazilian Society of Medical Genetics for several years and is a consulting member of the Brazilian Ministry of Health for the special policy on rare diseases. She has published and collaborated in research on medical genetics, lysosomal storage disorders, and public health.