Homepage » Courses Offered » Undergraduate Studies » 5th 13B017 Human Genetics


Compulsory/Elective Code Semester Lectures Practicals Credits ECTS
Elective 13Β017 5th 4 Hrs/Wk  3 Hrs/Wk 5 6,5

The course deals with basic concepts of Genetics, such as chromosomal structure and inheritance, different patterns of inheritance and hereditary disorders, Cytogenetics and syndrome analysis, study of genetic disosrders, cancer genetics, gene therapy and new targeted therapies. Laboratory exercises are carried out where experimental approaches (molecular techniques, classical and molecular Karyotype and identification of the basis of genetic disorders) are conducted in order the students to combine and analyze the results of various techniques. 


By the end of the course students are expected to: a) Be able to recognize different patterns of inheritance and the effect on the phenotype, b) Understand the association of genes and molecular mechanisms on hereditary and non-hereditary disorders, c) Be able to distinguish and understand the effect of genetic variants and mutations on human genome, d) Understand the principles of recombinant DNA techniques and cytogenetic analysis and be able to choose the appropriate method for the study of diseases, e) Understand the role of prenatal / preimplantation diagnosis and genetic counseling, f) Have understood the methods of transfer of genetic material for gene therapy, g) Understand the meaning of the presence of variants or mutations in the human genome and their association to treatment response, h) Be able to evaluate molecular or cytogenetic results in relation to phenotypic characteristics of genetic disorders/syndromes, i) Be able to correlate the laboratory results of molecular or cytogenetic analyzes with the phenotypic characteristics of diseases.

Knowledge: Students are expected to: a) Understand the differences among different types of inheritance, b) Distinguish the genetic variants and mutations and their impact on disorders, c) Understand the genetic background and underlying molecular mechanisms associated to genetic disorders, d) Understand the genetic basis and mechanisms involved in reproductive system, e) Understand the importance of prenatal diagnosis and genetic counseling, f) Understand the interaction of genetic background and signaling pathways involved in carcinogenesis, g) Understand the basic concepts of gene therapy and new approaches, h) Be able to combine the basic knowledge of recombinant DNA techniques with their use in the treatment and monitoring of diseases 

Skills: Students should: a) Explain the different patterns of inheritance and correlate them to various disorders, b) Identify and relate genetic background and molecular mechanisms to hereditary and non- hereditary disorders, c) Recognize and plan approaches to prenatal diagnosis, d) Associate and interpret genetic variants and mechanisms involved in different types of cancers, e) Handle scientific instruments with ease and reliability, f) Elaborate on different methodologies in the pre- and post-natal diagnosis of various diseases

Abilities: Students should: a) Be able to evaluate and compare data about hereditary mechanism and their relation to disorders, b) Be able to compare and associate data and make new assumptions about treatment of hereditary pre- and postnatal disorders, c) Be able to combine techniques and use the results in response  to biological questions and provide appropriate genetic counseling, d) Interpret the results, draw conclusions and suggest the proper management of genetic information and its correlation with appropriate therapies, e) Be able to evaluate and correlate new variants or mutations involving various diseases and identify the underlying molecular mechanisms.


Historical Retrospective of Genetics (2 Hours): Mendelism. The chromosomal theory of inheritance.

Human Reproductive System (4 Hours): Hormones. Male genital system. Female genital system. Hypothalamus-Pituitary-Gones. Pseudo- hermaphroditism, male and female.

Assisted Reproduction (2 Hours): In vitro fertilization.

Cytogenetics (8 Hours): Normal karyotype in mitosis and miosis. Chromosomal abnormalities. Mosaics and chimeras.

Genetic Variation and Mutations. New techniques for genomic analysis (4 hours): Mutations. Genetic variation. Genetic polymorphism. Detection of disease-causing mutations.

Hemoglobins and Hemoglobinopathies (4 Hours): Hemoglobins. Hemoglobinopathies - Hemoglobin structure disorders. Hemoglobin-Thalassemia Symptoms.

Cystic Fibrosis (2 Hours): Genetic background. Molecular mechanisms. Epigenic changes.

Neurological Diseases (4 Hours): Huntington disease. Hereditary neuropathies. Myotonic Dystrophies. Spinal Muscular Atrophy.

Genetic Counseling and Prenatal Diagnosis (3 Hours): Genetic Guidance. Detection of genetic diseases in the population. Risk assessment of disease recurrence. Embryonic tissue acquisition techniques. Prenatal diagnosis.

Biochemical Genetics (4 Hours): Congenital Metabolic Disorders. Disturbances in the metabolism of amino acids, carbohydrates, lipoproteins, purines / pyrimidines, organic acids.

Cancer Genetics (8 Hours): The genetic background of cancer. Oncogenes - tumor suppressor genes. Cytogenetic abnormalities. Familial Cancer cases. Haematological malignancies.

Pharmacogenetics-Pharmacogenomics (3 Hours): Genetics of Drug Metabolism. Genetic variables revealed after drug action. Personalized treatment.

Gene Therapy (4 Hours): Genetic diseases and gene therapy capability. Types of gene therapy. Gene transfer systems.


1. Preparation of genomic DNA- Polymerase chain reaction - 2. Detection methods of known mutations. Study of polymorphisms (SNPs), repetitive sequences (VNTRs). Haplotype analysis. Study of multifactorial diseases- Applications in Forensic Genetics  – 3. Detection methods of unknown mutations. Applications in genetic disorders and cancer – 4. cDNA. Detection of hybrid mRNA transcripts by Real-Time RT-PCR – 5.  Electrophoresis of hemoglobin in cellulose acetate strips. Application to prenatal diagnosis  - 6-7. Preparation of chromosomes (peripheral blood cells) - Banding methods - Karyotypic analysis – 8. New molecular techniques in Prenatal Diagnosis- Non invasive prenatal diagnosis.

  Lectures: P. Kollia, Professor, Associate Professor of Human Molecular Genetics (Coordinator) - A. Agathangelidis, Assistant Professor of Genetics - Molecular Genetics of Eukaryotes
  Practicals: P. Kollia, Professor, Associate Professor of Human Molecular Genetics A. Agathangelidis, Assistant Professor of Genetics - Molecular Genetics of Eukaryotes - Dr. M. Sarika (Laboratory Teaching Staff)

There are no prerequisites for the student to choose and attend the course. However, in order to achieve better understanding of the course, good knowledge of students in Genetics, Molecular Biology, Biochemistry and Cell Biology is considered to be as required.

The course is offered to Erasmus students: Teaching in Greek language - Exams in English language.

The evaluation process is carried out in Greek language (there is the possibility in English for Erasmus students), with a final examination of the whole course that includes: A. Theory (80% of the total grade of the course): a) Advanced Exam Questions and b) Multiple Choice Questions - B. Laboratory exercises (20% of the total grade of the course: a) Delivering written answers b) Written examination with an Extended Response Question and a Design. The total score is the sum of the two above-mentioned individual evaluations.

  If you require more information, please contact the Course Coordinator, Prof. P. Kollia at Tel: +30 210 727 4401, Email: pankollia[at]biol.uoa[dot]gr