Data
Official data in SubjectManager for the following academic year: 2024-2025
Course director
-
Berenténé Bene Judit Ágnes
associate professor,
-
Number of hours/semester
lectures: 14 hours
practices: 0 hours
seminars: 0 hours
total of: 14 hours
Subject data
- Code of subject: OBH-011-T
- 1 kredit
- Biotechnology MSc
- Specialty in Medical Biotechnology modul
- autumn
OBH-012-T parallel
Course headcount limitations
min. 5 – max. 40
Topic
The discovery of genes provided new perspectives in medicine which resulted in the revolution of biotechnology. The sequencing of the whole human genome became a milestone in the history of modern medicine, however, the determination of the nucleotide sequences of all genes is only the first step. To understand the function of various genes and gene products and to discover the complex networks they are organised in are even more important and this could be the starting point in the field of personalized medicine. The goal of this course is to present the structure and variations of the human genome, to discuss the molecular mechanisms involved in the gene expression and in the pathogenesis of genetic disorders. Moreover, the students will gain knowledge of the basic principles of human heredity, modern genetic diagnostic methods and fundamentals of pharmacogenetics and pharmacogenomics and personalized medicine.
Lectures
- 1. Introduction to molecular medicine: history of genetics, the Human Genome Project, the postgenom era, ENCODE project - Berenténé Bene Judit Ágnes
- 2. Organization of the human genome I. From the nuclear and mitochondrial genome to organization of the chromosomes. - Szabó András
- 3. Organization of the human genome II: Special elements of the human genome: organization and function of coding and non-coding regions; LINE, SINE, Alu sequence elements, SNP, CNV. - Burján Tiborné Maász Anita
- 4. Organization of the human genome III: Basics of cytogenetics, FISH, CGH, array techniques. - Czakó Márta
- 5. Mutations, SNPs, haplotypes, genetic drift. - Burján Tiborné Maász Anita
- 6. Basics of mendelian inheritance - Magyari Lili
- 7.
Construction of pedigree
- Till Ágnes - 8. Molecular pathology, effect of variants, genotype phenotype correlations - Szabó András
- 9. Gene therapy - Hadzsiev Kinga
- 10. Monogenic vs. complex disease, missing heritability - Berenténé Bene Judit Ágnes
- 11. Genetic testing - Szalai Renáta
- 12. Databases - Magyari Lili
- 13. Basics of pharmacogenetics, concept of personalised medicine. - Szalai Renáta
- 14. Epigenetics, imprinting. - Szalai Renáta
Practices
Seminars
Reading material
Obligatory literature
None
Literature developed by the Department
See Neptun
Notes
None
Recommended literature
The basis is the topics of the lectures.
Further reading:
Tom Strachan and Andrew P. Read: Human Molecular Genetics
Conditions for acceptance of the semester
None
Mid-term exams
Written exam in the exam period.
Making up for missed classes
None
Exam topics/questions
None
Examiners
- Berenténé Bene Judit Ágnes
- Czakó Márta
- Hadzsiev Kinga