Human Genetics Department

Academic Activities

Teaching Activities

Medical genetics has been transformed from an orphan field to an essential component of state-of-the-art healthcare. Indeed, clinical genetics plays a crucial role in the transition from traditional medical practice to personalized medical care. Physicians and other healthcare providers must master a new set of genetic principles, if they are to successfully integrate data at the molecular level into their therapeutic approach. Consequently, the disciplines of medical genetics and molecular biology have become fundamental to the education of the next generation of practitioners.

Currently, genetics is commonly taught as a basic science. Genetics overlaps with many other areas of basic science and medicine and therefore lends itself well to integration with other courses. In contrast with basic science teaching, genetics will almost certainly need to be integrated into other disciplines in clinical teaching. Indeed, this is desirable, in order to show how genetics contributes to the practice of medicine.

Our team has expertise in the fields of Clinical Genetics, Cytogenetics, Molecular Biology, Oncogenetics, Immunogenetics, and Functional Genomics. We are prepared to provide instruction to students of the healthcare professions and basic sciences.

Additionally our department will coordinate a program of academic activities, including courses, meetings, and seminars, for faculty physicians and residents.

Research Activities

Our team has contributed to more than 350 projects published in peer-reviewed scientific journals. Our aim has always been and is still to detect the genetic defect responsible for the disease of the patient referred to us. In many cases, establishing the molecular diagnosis is extremely challenging; this can happen when the patient has an atypical presentation of a known disease or when the gene involved in the disease is still undiscovered. In these cases, and when the family accepts to participate in the study, research is pursued in order to link genes to novel genetic disorders and to elucidate the molecular basis of these diseases. This leads to the understanding of physiological pathways and to the establishment of genotype-phenotype correlations (from patient to gene and from gene to patient). Our expertise and professional reputation in the field of genetics research provides added value to our institution.

International Collaborations

The Human Genetics department cultivates many ongoing international collaborations, including but not limited to the following list: