Genetics

Recommended Prerequisites

Basic concepts on biology, biochemistry, genetics and English.

Teaching Methods

Lectures; seminars; case-problems resolution; formative assessment.

Learning Outcomes

The student should be able to propose innovative approaches both to research and to the practice of personalized medicine in dentistry, applying ethics and law. The student should be able to:  describe the complex structural and functional architecture of human genome; explain how the environment and lifestyle may impact genome functioning; explain the genetic mechanisms beyond normal and disease-associated interindividual variability; select genomic and bioinformatics technologies both to explore the molecular and biologic mechanisms of diseases and to practice a personalized, integrative approach of the patient, from diagnosis, to prognosis evaluation, disease  monitoring and treatment; propose innovative methodologies to improve clinical practice; identify ethical issues and legal implications of the practice of genomic personalized medicine.

Work Placement(s)

No

Syllabus

• Genetic variability (on-line learning);
• Digital information and communication: Face2gene; Genomics Adviser and others (on-line learn-ing);
• New genomic technologies: from genome sequencing to transcriptome, methylome analysis, spatial transcriptomics and single cell sequencing (face-to-face learning);
• Modeling of gene therapy for regenerative cells- scalable computer systems (on-line learning);
• Stem cell gene therapy using gene expression-based machine learning (face-to-face learning);
• Machine learning-based approaches for identifying human blood cells (face-to-face learning);
• Smart Micro/Nano-robotic Systems for Gene Delivery (face-to-face learning);
• Approaches for complex problems: big data; integrative disease models; genetic simulation tools; gene ontology enrichment and pathway analysis; systems biology (on-line learning);
• Ethics and law: biobanks; access to individual genetic information; direct-to consumer genetic tests (on-line learning).

Head Lecturer(s)

Henriqueta Alexandra Mendes Breda Lobo Coimbra Silva

Assessment Methods

Assessment
Continuous assessment according to e-log book : 50.0%
Exam: 50.0%

Bibliography

• Scientific papers selected from literature to be available
• Slides presentation
• Human Molecular Genetics 4; Tom Strachen&Andrew P. Read;
• Thompson&Thompson, Genetics in Medicine, 8ª Edition.