Ateneo - UPO

The course aims to provide students with the tools to understand the molecular basis and modes of transmission of genetic diseases in humans and the latest technologies to identify genes involved in monogenic and multifactorial diseases, to develop new therapies and diagnostic tests

Human Molecular Genetics
STRACHAN TOM; READ ANDREW, 5th Edition, Garland
Selected articles on international Journals on the topics of the course

The course aims to provide students with the tools to understand the molecular basis and modes of transmission of genetic diseases in humans and the latest technologies to identify genes involved in monogenic and multifactorial diseases, to develop new therapies and diagnostic tests

Students must have a basic knowledge of cell biology, the flow of genetic information, and the anatomy of the human genome

Lectures and computer exercises through the Moodle platform (DIR) and correction in the classroom with the teacher. The topics of the tutorials concern sequencing results with the Sanger and NGS method (Next Generation Sequencing)

.Students with physical disabilities, Learning Disabilities or Special Education Needs can request specific services and tools via the Staff “Sviluppo e Coordinamento Carriere e Servizi alle Studentesse e agli Studentesse e Studenti”, consulting the University webpage: https://www.uniupo.it/en/services/services-students-physical-or-learning-disabilities
Students with disabilities, learning disabilities or special education needs, once they have contacted the University Staff, can refer to the tutor in charge of the course to define the examination modalities, concerning academic aspects

Oral exams. A power point presentation of one article selected by each Student among a list provided by the teacher during the course.
The presentation will be followed by questions or clarifications on the presentation and by further questions on topics related or not related to the selected article in order to verify the preparation on all the topics of the Course

Methods to identify causative genes of monogenic diseases: the example of Amyotrophic Lateral Sclerosis, linkage analysis (SOD1 gene)
2) Methods to identify causative genes of monogenic diseases: candidate gene analysis and positional cloning (TARDBP, FUS, c9orf72 genes)
3) Methods to identify causative genes of monogenic diseases: the example of Amyotrophic Lateral Sclerosis: animal models and model organisms as a starting point for investigations. Whole exome sequencing analysis in patient families and cohorts. Pathogenetic mechanisms of disease emerged from genetic investigations
4) Applications of genetics in the clinical setting: the molecular genetic test.
Molecular diagnosis of ALS (Sanger, genotyping PCR repeat). Sanger tutorial presentation

5) Applications of genetics in the clinical setting: molecular diagnosis of ALS through NGS.
6) presentation of NGS data interpretation exercise Applications of genetics in the clinical setting: therapy of monogenic diseases based on genetic knowledge
7) correction and comment on NGS data interpretation exercise.
8) Applications of genetics in the NGS clinical setting and multiomic analyzes to improve the diagnostic yield
9) Introduction Multifactorial traits and pathologies: methods to identify susceptibility genes, results and biomedical applications
10) Chromosomal and structural variant diseases

Students are expected to learn major new technologies in genomics and multiomics sciences and applications in the research, diagnosis and therapy of human diseases with a genetic basis. Furthermore, it is expected that they will know how to apply this knowledge to set up experimental investigations in the different branches of genetics and to critically discuss the results. They are also expected to acquire correct communication skills in the topics under study