Since the beginning of her career Mayana has assisted approximately 16,000 people of families affected by genetic diseases (mostly neuromuscular problems), which is the highest number of cases registered in the world. In the latter part of 1995, Mayana, professor Maria Rita Passos Bueno, and doctorate student Eloísa de Sá Moreira were the first scientists in the world to find one of the genes related to a dystrophy which affects the arms and legs. They also mapped the gene responsible for the Knobloch syndrome, which causes a type of progressive blindness.