The Genetics Departament was created by the new Statutes of INSA (2007), being attributed the responsibility to develop “activities in the areas of human and medical genetics”. It integrated, in Lisbon, the Center for Human Genetics of INSA and in Porto, the Institute of Medical Genetics Jacinto of Magalhães and the Center for Paramyloidosis Studies of INSA.
The Center for Human Genetics was established in 1975 as a cytogenetics laboratory, later expanding to other areas of research and diagnosis of genetic diseases, both constitutional and somatic.
It comprised, in 2007, about eighty researchers and technicians cooperating in the conception and execution of research and development (R&D) projects and in the provision of laboratory genetics services, of which the quality is surveyed by periodic inter-laboratory assays.
The Institute of Medical Genetics Jacinto Magalhães was constituted in 1980 upon a basic Service of Medical Genetics of the Children’s Hospital Maria Pia, created 1971 by Doctor Jacinto Magalhães.
Later on, it developed laboratorial areas in different areas of clinical diagnosis and research. Medical Genetics always played a great part in the life of the institution; it included training competence acknowledged by the Portuguese National Board of Medical Doctors.
Since 1979, the Institute organized and implemented the National Newborn Screening Program, at both the organizational and laboratory levels.