MEDICAL GENETICS | University of Rwanda

Enrolment options

Medical Genetics and Genomics aims at developing a theoretical and practical understanding of basic principles of DNA, functional genomics, techniques of genome exploration, genetic diseases and their modes of transmission that will enhance the student's practical and technical problem-solving skills and ability to critically apply genetic and genomic technology for human genetic disease diagnostics. In addition, the student will be able to describe genetics in medical practice including recognizing congenital anomalies and syndromes, risk assessment and genetic counseling, genetic testing and screening, and plans for management and treatment.

Learning Outcomes

Knowledge and Understanding

Having successfully completed this module, students should be able to

demonstrate knowledge and understanding of:

1. Basics of DNA and genetic mutations;

2. Genome exploration and functional genomics;

3. Forensic DNA analysis and its applications;

4. Patterns of Mendelian inheritance and clinical manifestations of monogenic

diseases;

5. Chromosomal abnormalities, and the clinical features of common

chromosomal disorders;

6. Mitochondrial inheritance and mitochondrial diseases;

7. Epigenetics, genomic imprinting and triplet repeat diseases.

8. Hemogobinopathies

9. Dysmorphic patterns in infants

10. Genetic cancer and inherited cancer syndromes

11. Genetic counseling and ethics

Cognitive/Intellectual skills/Application of Knowledge

Having successfully completed this module, students should be able to:

12. Understand the basics of DNA and molecular biology techniques;

13. Understand techniques of nuclear and mitochondrial genome exploration;

14. Understand functional genomic exploration;

15. Understand transmission of monogenic diseases and non Mendelian disorders;

16. Understand cytogenetic techniques and recognize chromosomal abnormalities;

17. Understand and recognize dysmorphic features;

18. Understand mechanisms of inherited cancers

19. Understand principles of genetic counseling.

Communication/ICT/Numeracy/Analytic Techniques/Practical Skills/Information Literacy

Having successfully completed this module, students should be able to:

20. Prepare a typed short report (assignment) on choosen topic in medical genetics and genomics after research desk review and be able to present it in in word document and a PowerPoint format in front of their peers;

21. Demonstrate good understanding of cytogenetic techniques (e.g. Karyotype)

after lab practical works.