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HUMAN GENETICS

             
Compulsory/Elective Code Semester Lectures Practicals Credits ECTS
Elective 13A505 5th 3 Hrs/Wk 3 Hrs/Wk 4 5.5
Aims:
 
 

This course will educate under-graduate students and give an overview of the: a) understanding of chromosomal basis of inheritance, chromosome abnormalities, disorders with cytogenetic effects, b) human genetic diversity, polymorphisms- mutations and the underlying mechanisms of inherited diseases, c) understanding of mechanisms whereby biological traits are passed from generation to generation and expressed in the individual, d) ability to reveal the mechanisms underlying sometimes mysterious observation made in classical genetics, e) recombinant DNA technology and all the high-throughput technologies used for pre- and post-natal diagnosis of diseases, f) importance of merging clinical observation with basic laboratory findings.

 
Objectives:
 
 

At the end of the course students should: a) acquire enhanced knowledge on the role of Genetics in the understanding of abnormal phenotype, mutations and the underlying mechanisms in the development of hereditary and non –hereditary diseases, b) be able to understand the chromosomal basis of inheritance, and the basis of inherited diseases, c) be able to develop cogent and critical arguments based on human genome, genetic variation, mutations and the relevant methodology, d) be able to perform, analyze and report on molecular techniques and high throughput technologies for prevention, diagnosis and treatment of diseases, e) be able to understand the role of genetic counseling in the prevention of genetic diseases, the correlation of genetic changes in response to drugs and the applications of new techniques of genetic modification in the treatment of diseases.

 
Lectures:
 
 

History of Genetics (2 Hours): Mendelism, Chromosomal theory of inheritance - Human reproductive system (4 Hours): Oogenesis. Spermatogenesis. Meiosis. Hormonal regulation - Assisted Reproduction (2 Hours): In Vitro fertilization. Immunology of infertility - Cytogenetics (8 Hours): Normal karyotype. Chromosomal aberrations. Chimerism - Genetic variability and mutations.  New techniques for whole genome analysis (3 Hours): Genetic polymorphisms and mutations. Genetic diversity. Detection of disease-causing mutations - Hemoglobin and Hemoglobinopathies (4 Hours): Normal hemoglobins. Various types of hemoglobinopathies. Thalassemia - Genetic counseling and Prenatal diagnosis (3 Hours): Genetic counseling. Prenatal diagnosis. Techniques of embryonic samples - Biochemical Genetics (3 Hours): Inborn errors of metabolism. Errors of amino acids, carbohydrate, lipoproteins and organic acids metabolism - Cancer Genetics (5 Hours): Oncogenes. Tumor suppressor genes. Familial cancer. Hematological malignancies - Pharmacogenetics-Pharmacogenomics (2 Hours): Genetics of drugs metabolism. Personalized Medicine - Gene therapy (3 Hours): Genetic disorders and possibility of genetic therapy. Types of genetic therapy. Systems of gene transfer.

 
Practicals:
 
 

1. Preparation of peripheral blood chromosomes – Methods of chromosome banding - Karyotypic analysis. 2. Rapid Prenatal Diagnosis of Chromosomal Abnormalities (Amnio-PCR). 3. Study of polymorphisms (SNPs), variable nucleotide repetitive sequences (VNTRs) - Haplotypes - Study of multifactorial and polygenic diseases - Applications in Forensic Medicine. 4. Detection of mutations by PCR /RT-PCR in genetic diseases. 5. Preparation of hemolysates - Electrophoresis of hemoglobin on cellulose acetate membranes.

 
Instructors:
 
 

Lectures: P. Kollia, Associate Professor of Human Molecular Genetics (Coordinator) - V. Aleporou,  Professor of Biochemical Genetics

 
  Practicals: P. Kollia, Associate Professor of Human Molecular Genetics (Coordinator) - V. Aleporou,  Professor of Biochemical Genetics, Dr. C. Gementzi, Laboratory Teaching Staff, Dr. M. Sarika, Laboratory Teaching Staff
 
Notes:
 
  Lecture units are usually assessed by written examinations which are held at the end of an academic semester in either January/February or June/July. Practical units are usually assessed by experimental report and/or short written assignment and/or written examinations.
 
Contact:
 
  If you require more information, please contact the Course Coordinator, Assoc. Prof. P. Kollia  at: Tel: (+30) 210 727 4401; e-mail: pankollia[at]biol.uoa[dot]gr