Medical Genetics


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

Course director

Number of hours/semester

lectures: 12 hours

practices: 2 hours

seminars: 0 hours

total of: 14 hours

Subject data

  • Code of subject: OAK-OGE-T
  • 1 kredit
  • General Medicine
  • Clinical modul
  • spring

OAK-EAB-T parallel , OAK-GY1-T completed , OAK-NA1-T completed

Exam course:


Course headcount limitations

min. 5 – max. 200

Available as Campus course for . Campus-karok: ÁOK


The aim of this course is to aid the students in understanding the coherences of the phenome-genome from a molecular genetic point of view with the involvement of the new, post-genomic approach. Its goal is to introduce the specific characteristics of a basic group of genetic disorders and to discuss major elements of genetic counselling along with the related legal and ethical aspects. During the course, the attention of the audience will be directed towards the available and rapidly developing modern molecular methods and their adequate and relevant applications in diagnostics and research as well as towards the advantages, limitations and potential risks of genetic tests for an individual.


  • 1. The genetic patient; construction and analysis of pedigree. Genetic counselling. - Dr. Hadzsiev Kinga
  • 2. Neurogenetics. - Dr. Sebők Ágnes
  • 3. Genetics of intellectual disability. - Dr. Till Ágnes
  • 4. Genetics of psychiatric disorders. - Dr. Hadzsiev Kinga
  • 5. Syndromes - Dr. Hadzsiev Kinga
  • 6. Genetics of cardiological diseases. - Dr. Hadzsiev Kinga
  • 7. Nephropathies, ciliopathies, mitochondrial inheritance / diseases. - Dr. Hadzsiev Kinga
  • 8. Tumorgenetics. - Dr. Till Ágnes
  • 9. Therapy in inherited disesases I. - Dr. Hadzsiev Kinga
  • 10. Therapy in inherited disesases II. - Dr. Till Ágnes
  • 11. New generation molecular examination methods I: next generation sequencing. - Dr. Berenténé Dr. Bene Judit Ágnes
  • 12. New generation molecular examination methods II: array CGH. - Dr. Czakó Márta


  • 1. Genetic counselling
  • 2. Construction of pedigree


Reading material

Obligatory literature

The basis is the topics of the lectures.

Literature developed by the Department

Neptun Meet Street, POTEPEDIA, Teams


Recommended literature

Further readings:
- Nelson Textbook of Paediatrics
- Emery and Mueller: Elements of Medical Genetics

Conditions for acceptance of the semester

Maximum of 15 % absence allowed

Mid-term exams


Making up for missed classes


Exam topics/questions

Detailed knowledge of the following disorders is required:
- Cystic fibrosis,
- Duchenne and Becker muscular dystrophy,
- Myotonic dystrophy,
- Angelman syndrome,
- Prader-Willi syndrome,
- Down syndrome/Edwards sy/Patau sy.,
- Fragile X syndrome,
- Hemophilia A and B,
- Huntington's disease,
- Klinefelter syndrome,
- Turner syndrome/triple X syndrome,
- Noonan syndrome,
- Phenylketonuria,
- Rett syndrome,
- Neurofibromatosis,
- Tuberous sclerosis,
- DiGeorge syndrome/spectrum,
- Cri du Chat syndrome,
- Williams syndrome,
- CHARGE association,
- VACTERL association,
- Mucopolysaccharidoses,
- Fabry disease,
Knowledge of the following disorders is required:
- Sotos syndrome,
- Rubinstein-Taybi syndrome,
- Niemann-Pick disease,
- Biotinidase deficiency,
- Galactosemia,
- Hypothyroidism,
- Maple syrup disease,
- Lesch-Nyhan syndrome,
- Mitochondrial diseases:
- MELAS (mitochondrial encephalopathy, lactic acidosis, stroke-like episodes),
- LHON (Leber hereditary optic neuropathy),
- Hearing loss inherited from the mother's side,
- Maternal diabetes mellitus


  • Burján Tiborné Dr. Maász Anita
  • Dr. Berenténé Dr. Bene Judit Ágnes
  • Dr. Czakó Márta
  • Dr. Hadzsiev Kinga
  • Dr. Magyari Lili
  • Dr. Melegh Béla
  • Dr. Szabó András
  • Dr. Szalai Renáta
  • Dr. Till Ágnes
  • Dr. Zsigmond Anna

Instructor / tutor of practices and seminars

  • Dr. Baráti László Gábor
  • Dr. Hadzsiev Kinga
  • Dr. Mikó Alexandra
  • Dr. Till Ágnes
  • Dr. Zsigmond Anna