Maria Puiu is a professor and chief of human genetics department at the University of Medicine and Pharmacy “Victor Babes” Timisoara, Romania. She is also chief of genetics department in the Emergency Hospital for Children “Louis Turcanu” Timisoara. Since 2010, she has been the President of the Romanian Society of Medical Genetics. She is a n expert in both genetics and pediatrics. During her professional career, Professor Puiu has published over 300 articles in national and international journals, along with more than 35 books, guidelines and courses. Her career focus is centered on rare diseases, influencing research and awareness in this field. She is a founding member and vice-president of the National Alliance for Rare Diseases, and works on improving policies and implementing projects for the National Rare Diseases Plan. She was involved in grant projects focused on rare diseases and she is an expert evaluator for the European FP7 on rare diseases program.