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Education

Medical Genetics

Data

Official data in SubjectManager for the following academic year: 2024-2025

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
Prerequisites:

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

Course headcount limitations

min. 5 – max. 200

Topic

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.

Lectures

  • 1.

    The genetic patient, Genetic counselling.

    - Hadzsiev Kinga
  • 2.

    Genetics of intellectual disability.

    - Till Ágnes
  • 3.

    Syndromes.

    - Hadzsiev Kinga
  • 4.

    Neurogenetics.

    - Sebők Ágnes
  • 5.

    Tumorgenetics.

    - Mikó Alexandra
  • 6.

    Genetics of psychiatric disorders.

    - Hadzsiev Kinga
  • 7. Nephropathies, ciliopathies, mitochondrial inheritance / diseases. - Hadzsiev Kinga
  • 8.

    Hereditary eye diseases, Hereditary forms of deafness.

    - Hadzsiev Kinga
  • 9.

    Genetics of heart diseases, Connective tissue diseases.

    - Hadzsiev Kinga
  • 10.

    Therapy

    - Till Ágnes
  • 11.

    Array CGH

    - Czakó Márta
  • 12.

    NGS

    - Berenténé Bene Judit Ágnes

Practices

  • 1.

    Genetic counselling.

    - Hadzsiev Kinga
  • 2.

    Construction of pedigree.

    - Hadzsiev Kinga

Seminars

Reading material

Obligatory literature

The basis is the topics of the lectures.

Literature developed by the Department

Teams, POTEPedia

Notes

Recommended literature

Further readings:

- Nelson Textbook of Paediatrics

- Emery and Mueller: Elements of Medical Genetics

Conditions for acceptance of the semester

Written exam, oral exam

Mid-term exams

None.

Making up for missed classes

None.

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

Examiners

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

Instructor / tutor of practices and seminars

  • Baráti László Gábor
  • Berenténé Bene Judit Ágnes
  • Czakó Márta
  • Hadzsiev Kinga
  • Mikó Alexandra
  • Till Ágnes
  • Zsigmond Anna
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