Molecular Medicine


Official data in SubjectManager for the following academic year: 2023-2024

Course director

  • Dr. Judit Ágnes BERENTE-BENE

    associate professor,
    Department of Medical Genetics

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

Exam course:


Course headcount limitations

min. 5 – max. 40


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.


  • 1. Introduction to molecular medicine: history of genetics, the Human Genome Project, the postgenom era, ENCODE project - Dr. Berenténé Dr. Bene Judit Ágnes
  • 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. Hadzsiev Kinga
  • 10. Monogenic vs. complex disease, missing heritability - Dr. Berenténé Dr. Bene Judit Ágnes
  • 11. Genetic testing - Dr. Szalai Renáta
  • 12. Databases - Dr. Magyari Lili
  • 13. Basics of pharmacogenetics, concept of personalised medicine. - Dr. Szalai Renáta
  • 14. Epigenetics, imprinting. - Dr. Szalai Renáta



Reading material

Obligatory literature


Literature developed by the Department

See Neptun



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

Maximum of 15 % absence allowed

Mid-term exams

Written exam in the exam period.

Making up for missed classes


Exam topics/questions



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

Instructor / tutor of practices and seminars