Data
Official data in SubjectManager for the following academic year: 2023-2024
Course director
-
Dr. Kinga HADZSIEV
assistant professor,
Department of Medical Genetics -
Number of hours/semester
lectures: 12 hours
practices: 0 hours
seminars: 0 hours
total of: 12 hours
Subject data
- Code of subject: OXF-EST-h-T
- 1 kredit
- General Medicine
- Optional modul
- autumn
ODA-HUG-T completed
Course headcount limitations
min. 5 – max. 20
Available as Campus course for 20 fő számára. Campus-karok: ÁOK
Topic
Rare diseases, while individually each disease is rare, collectively are common. More than 10,000 rare diseases affect nearly 400 million people worldwide. The personal and economic burdens of rare diseases are immense. Most of the rare diseases are caused by defective genes that impair quality of life and can lead to premature death. Gene therapy is a logical way to treat rare genetic diseases; cure a single gene defect by introducing a 'correct' gene. Today, there are only a handful therapies for rare diseases. As gene and other high-definition therapies are still under development, it is still unclear whether they will be successful in treating these diseases. In this course, we aim to address the potential and challenges of high-definition therapies for the treatment of rare genetic diseases.
Lectures
- 1. Introduction to rare genetic disorders - Dr. Morava-Kozicz Éva
- 2. Introduction to rare genetic disorders - Dr. Morava-Kozicz Éva
- 3. Introduction to genetic therapies - Dr. Hadzsiev Kinga
- 4. Introduction to genetic therapies - Dr. Hadzsiev Kinga
- 5. The utility of induced pluripotent stem cell (iPSC) derived models in mitochondrial disease - Dr. Kozicz László Tamás
- 6. The utility of induced pluripotent stem cell (iPSC) derived models in mitochondrial disease - Dr. Kozicz László Tamás
- 7. Drug repurposing in congenital disorders of glycosylation - Dr. Morava-Kozicz Éva
- 8. Drug repurposing in congenital disorders of glycosylation - Dr. Morava-Kozicz Éva
- 9. Gene therapy in cardiomyopathy - Dr. Kozicz László Tamás
- 10. Gene therapy in cardiomyopathy - Dr. Kozicz László Tamás
- 11. Novel therapeutic approaches in rare disorders; liposomal targeting, mRNA treatment, ASO etc. - Dr. Morava-Kozicz Éva
- 12. Novel therapeutic approaches in rare disorders; liposomal targeting, mRNA treatment, ASO etc. - Dr. Morava-Kozicz Éva
Practices
Seminars
Reading material
Obligatory literature
Literature developed by the Department
Az előadások anyagai.
Notes
Recommended literature
Conditions for acceptance of the semester
Maximum of 15 % absence allowed
Mid-term exams
Beszámoló vagy vizsga
Making up for missed classes
Nincs lehetőség pótlásra.
Exam topics/questions
Neptun Meet Street