Medical Genetics

Daten

Offizielle Daten in der Fachveröffentlichung für das folgende akademische Jahr: 2020-2021

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. Introduction to medical genetics: history of genetics, Human Genome Project, databases (OMIM, HapMap, Orphanet), variability of the human genome, SNP, susceptibility genes. Personalized medicine, NIPT, liquid biopsy. - Dr. Hadzsiev Kinga
• 2. Characteristics of mendelian inheritance; polygenic inheritance, pleiotropic e., incomplete dominance, codominance, epistasis, basic types of mendelian inheritance, consanguinity. - Dr. Hadzsiev Kinga
• 3. The genetic patient; construction and analysis of pedigree. Genetic counselling. Rare diseases. - Dr. Hadzsiev Kinga
• 4. Inherited diseases with intellectual disability. Identification of syndromes. - Dr. Hadzsiev Kinga
• 5. New generation molecular examination methods I: next generation sequencing. - Dr. Berenténé Dr. Bene Judit Ágnes
• 6. New generation molecular examination methods II: array CGH. - Dr. Czakó Márta
• 7. Non-mendelian inheritance; mitochondrial and trinucleotid extension diseases, uniparental disomy. Ciliopathies. - Dr. Hadzsiev Kinga
• 8. Immunogenetics. - Dr. Hadzsiev Kinga
• 9. Tumorgenetics. - Dr. Hadzsiev Kinga
• 10. Diseases of the connective tissue, inborn errors of metabolism. Inherited disorders of the skin and skeletal system. - Dr. Hadzsiev Kinga
• 11. Therapy in inherited disesases. - Dr. Hadzsiev Kinga
• 12. Neurogenetics. - Dr. Sebők Ágnes

Praktika

• 1.
• 2.

Seminare

Materialien zum Aneignen des Lehrstoffes

Obligatorische Literatur

The basis is the topics of the lectures.

Vom Institut veröffentlichter Lehrstoff

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.
The knowledge of the following anomalies is required:
mucopolysaccharidoses, biotinidase deficiency, Galactosemia, hypothyroidism, maple syrup urine disease, Lesch-Nyhan syndrome, Williams 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. Melegh Béla
• Dr. Szabó András
• Dr. Szalai Renáta

Praktika, Seminarleiter/innen

• Dr. Hadzsiev Kinga
• Dr. Zima Judith
• Dr. Zsigmond Anna
• Ripszám Réka