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Education

Development of Individualized Therapies in Rare Genetic Disorders

Data

Official data in SubjectManager for the following academic year: 2023-2024

Course director

Number of hours/semester

lectures: 12 hours

practices: 0 hours

seminars: 0 hours

total of: 12 hours

Subject data

  • Code of subject: OAF-EST-T
  • 1 kredit
  • General Medicine
  • Optional modul
  • autumn
Prerequisites:

OAA-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

Examiners

Instructor / tutor of practices and seminars

Rólunk