Medical Genetics (14+0+0)

Daten

Offizielle Daten in der Fachveröffentlichung für das folgende akademische Jahr: 2024-2025

Thematik

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.

Vorlesungen

• 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

Praktika

• 1.

  Genetic counselling.

  - Hadzsiev Kinga
• 2.

  Construction of pedigree.

  - Hadzsiev Kinga

Seminare

Materialien zum Aneignen des Lehrstoffes

Obligatorische Literatur

The basis is the topics of the lectures.

Vom Institut veröffentlichter Lehrstoff

Teams, POTEPedia

Skript

Empfohlene Literatur

Further readings:

- Nelson Textbook of Paediatrics

- Emery and Mueller: Elements of Medical Genetics

Voraussetzung zum Absolvieren des Semesters

Written exam, oral exam

Semesteranforderungen

None.

Möglichkeiten zur Nachholung der Fehlzeiten

None.

Prüfungsfragen

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

Prüfer

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

Praktika, Seminarleiter/innen

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