Medical Genetics

Daten

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

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; 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. Mitochondrial inheritance / diseases. - Dr. Hadzsiev Kinga
• 6. Genetics of cardiological diseases. - Dr. Hadzsiev Kinga
• 7. Nephropathies, ciliopathies. - 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

Praktika

• 1. Genetic counselling
• 2. Construction of pedigree

Seminare

Materialien zum Aneignen des Lehrstoffes

Obligatorische Literatur

The basis is the topics of the lectures.

Vom Institut veröffentlichter Lehrstoff

POTEPEDIA, Teams, Neptun Meet Street

Skript

Empfohlene Literatur

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

Voraussetzung zum Absolvieren des Semesters

Maximum of 15 % absence allowed

Semesteranforderungen

None.

Möglichkeiten zur Nachholung der Fehlzeiten

None.

Prüfungsfragen

Neptun Meet Street.
The detailed knowledge of the following anomalies is required:
Cystic fibrosis, Duchenne and Becker muscular dystrophy, myotonic dystrophy, Angelman syndrome,
Prader-Willi syndrome, Down syndrome /Edwards syndrome /Patau syndrome, Fragile X syndrome,
Hemophilia A and B, Huntington disease, Klinefelter syndrome, Turner syndrome /Triple X syndrome, phenylketonuria, Rett syndrome, neurofibromatosis, DiGeorge syndrome /spectrum,
Cri du Chat syndrome, Williams syndrome.
The knowledge of the following anomalies is required:
Mucopolysaccharidoses, biotinidase deficiency, Galactosemia, hypothyroidism, maple syrup urine disease, Lesch-Nyhan syndrome.
Mitochondrial diseases:
MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes)
LHON (Leber's hereditary optic neuropathy)
Maternally inherited deafness
Maternally inherited diabetes mellitus

Prüfer

• 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

Praktika, Seminarleiter/innen

• Dr. Hadzsiev Kinga
• Dr. Till Ágnes
• Dr. Zsigmond Anna