Molecular Medicine - practice (0+28+0)

Daten

Offizielle Daten in der Fachveröffentlichung für das folgende akademische Jahr: 2022-2023

Thematik

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.

Vorlesungen

• 1. Introduction to molecular medicine: history of genetics, the Human Genome Project, the postgenom era, ENCODE project - Dr. Hadzsiev Kinga
• 2. Organization of the human genome I. From the nuclear and mitochondrial genome to organization of the chromosomes. - Dr. 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 Dr. Maász Anita
• 4. Organization of the human genome III: Basics of cytogenetics, FISH, CGH, array techniques. - Dr. Czakó Márta
• 5. Mutations, SNPs, haplotypes, genetic drift. - Burján Tiborné Dr. Maász Anita
• 6. Basics of mendelian inheritance - Dr. Magyari Lili
• 7. Construction of pedigree - Dr. Zsigmond Anna
• 8. Molecular pathology, effect of variants, genotype phenotype correlations - Dr. Szabó András
• 9. Gene therapy - Dr. Till Ágnes
• 10. Monogenic vs. complex disease, missing heritability - Dr. Berenténé Dr. Bene Judit Ágnes
• 11. Genetic testing - Dr. Zsigmond Anna
• 12. Databases - Dr. Magyari Lili
• 13. Basics of pharmacogenetics, concept of personalised medicine. - Dr. Szalai Renáta
• 14. Epigenetics, imprinting. - Dr. Szalai Renáta

Praktika

Seminare

Materialien zum Aneignen des Lehrstoffes

Obligatorische Literatur

None

Vom Institut veröffentlichter Lehrstoff

See Neptun

Skript

None

Empfohlene Literatur

The basis is the topics of the lectures.
Further reading:
Tom Strachan and Andrew P. Read: Human Molecular Genetics

Voraussetzung zum Absolvieren des Semesters

Maximum of 15 % absence allowed

Semesteranforderungen

Written exam in the exam period.

Möglichkeiten zur Nachholung der Fehlzeiten

None

Prüfungsfragen

None

Prüfer

• Dr. Berenténé Dr. Bene Judit Ágnes
• Dr. Czakó Márta
• Dr. Hadzsiev Kinga

Praktika, Seminarleiter/innen