Data
Official data in SubjectManager for the following academic year: 2020-2021
Course director
-
Dr. Kinga HADZSIEV
assistant professor,
Department of Medical Genetics -
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
OAK-EAB-T parallel , OAK-GY1-T completed , OAK-NE1-T completed
Exam course:no
Course headcount limitations
min. 1 – max. 200
Available as Campus course for . Campus-karok: ÁOK
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. 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
Practices
- 1.
- 2.
Seminars
Reading material
Obligatory literature
The basis is the topics of the lectures.
Literature developed by the Department
Notes
Recommended literature
Further readings:
- Nelson Textbook of Paediatrics
- Emery and Mueller: Elements of Medical Genetics
Conditions for acceptance of the semester
Maximum of 15 % absence allowed
Mid-term exams
None.
Making up for missed classes
None.
Exam topics/questions
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
Examiners
- 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
Instructor / tutor of practices and seminars
- Dr. Hadzsiev Kinga
- Dr. Zima Judith
- Dr. Zsigmond Anna
- Ripszám Réka