SYLLABUS
AIM
The course material aims to present students with the principles of Genetics as applied to humans. A big part of the course concerns the role of Genetics in human health and the interaction of basic scientific knowledge and clinical application.
The genetic, molecular and chromosomal basis of inherited diseases, cancer, diseases with genetic predisposition as well as other pathological disorders are presented extensively.
The teaching course presents the basic principles with extensive use of examples.
The course touches and cover the branches of Genetic diagnostics, Genetic counseling and the emerging branch of “Genetics in Medicine”.
Objectives and expected learning outcomes
Upon completion of the course, the students will be able to know and to understand:
• The organization of the human genome and the molecular etiology of various genetic diseases.
• The concept of genetic material sequencing and techniques, Sanger sequencing, Next Generation Sequencing (NGS), and the applications and ethical issues that arise.
• Terms such as molecular evolution of genes, population structure and natural selection. Apply the information to computer phylogenetic programs.
• The modern methodologies for the analysis of human genetic materials, but also clinical cases of genetic diseases.
• New knowledge opens for diagnosis, prognosis and treatment of genetic diseases (Gene Therapy).
• The ability to evaluate the continuous information from the latest developments in the field of related research and development.
• How to develop a research work either individually or in groups (Search the relevant literature, evaluate the data and writing.
• How to use general texts, reference books and a number of other resources to further develop knowledge through continuous independent learning.
SYLLABUS
Lectures
1. Introduction to Human Genetics – The role of Genetics in health: The human genome and Chromosomes.
2. Biochemical and molecular basis of genetic disease: The structure of DNA. Macro and micro lesions. Mutations. Signal mutations and their location.
3. Mendelian character inheritance in humans: Study of heredity, law of Mendel. Basic Mendelian models of heredity- Nonmendelian models. Monogenic disorders and multifactorial heredity
4. Hemoglobinopathies: Thalassemia’s, Rhesus (anti-D, IgG)
5. Cytogenetics: Chromosomes-Cytogenetics-Chromosomes Abnormalities-Clinical Cytogenetic: Disorders of Autosomes and the Sex Chromosomes (Down Syndrome, Edwards, Patau and Cri Du Chat syndrome)
6. Detection Methods of genetic syndromes/Tutorial exercise: FISH, PCR, Sequencing, karyotype.
7. Genetics of Cancer in human: Forms of family cancer, cancer syndromes (retinoblastoma, Heredity breast and ovary cancer, Familial Adenomatous Polyposis, Li-Fraumeni Syndrome, Von Hippel- Lindau Syndrome etc.)-Cytogenetics in Cancer
8. Population Genetics: The study of the history of evolution (classification, phylogeny based on morphological and molecular data, molecular clock). Evolution at the molecular level (rate of sequence evolution, transposable elements, evolution of genes and proteins, horizontal gene transfer). Diversity. Population structure. Natural Selection. Adaptation.
9. Population Genetics/ Tutorial exercise: The genome and databases. Introduction to the use of software for the analysis of polymorphisms of a nucleotide and the calculation of binding imbalance.
10. Clinical Genetics and Genetic counseling/ Tutorial exercise: Applications of Genetics in clinical practice. Genetic counseling- clinical cases of genetic diseases and their management. Prenatal screening.
11. Genome Sequencing: Human genome analysis program/its applications. Ethical dilemmas in Human Genetics. Sanger Sequencing, Next Generation Sequencing (NGS). Position-based cloning. Gene’s mapping involved in genetic diseases.
12. Gene Therapy: The future Therapy. How it works its applications in the treatment of cancer, cystic fibrosis etc. Stem cells/Ethical dilemmas.
13. Genetic Modification: What is and how the method CRISPR-Cas9 works. Structural and functional analysis of Cas9 of the CRISPR system. The experimental and nonexperimental applications to date. Ethical problems and Security for the modification of Human Genome.