Medical Genetics

Adatok

A Tantárgybejelentőben megadott hivatalos adatok az alábbi tanévre: 2022-2023

Tematika

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.

Előadások

• 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

Gyakorlatok

• 1. Genetic counselling
• 2. Construction of pedigree

Szemináriumok

A tananyag elsajátításához szükséges segédanyagok

Kötelező irodalom

The basis is the topics of the lectures.

Saját oktatási anyag

POTEPEDIA, Teams, Neptun Meet Street

Jegyzet

Ajánlott irodalom

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

A félév elfogadásának feltételei

Maximum of 15 % absence allowed

Félévközi ellenőrzések

None.

Távolmaradás pótlásának lehetőségei

None.

Vizsgakérdések

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

Vizsgáztatók

• 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

Gyakorlatok, szemináriumok oktatói

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