Credit Units: 2
Lecturer: Dr. IKWUKA A.O. (MD, Sp. Cert., PhD Medicine) Email Id: firstname.lastname@example.org, College of Health Sciences, Department of Pharmacy & Pharmaceutical Sciences.
This course explores the principles of human genetics and its medical applications. Other topics will include population genetics, genetic testing, clinical applications of genetics and new genetic discoveries for disease treatment. Students will also engage in discussion of current primary research literature in the field of medical genetics.
Learning Objectives: With this course, students should be able to:
Explain basic genetics, Mendelian inheritance, dominant and recessive inheritance.
Understand some characteristics of the human DNA replication, transcription and
Understand the structure of gene, the genetic code, chromosome, oogenesis,
spermatogenesis, mutation, polymorphism.
Explain structural chromosomal aberrations: deletions, duplications, translocations,reciprocal translocations and inversions.
Explain numerical chromosomal aberrations: euploidy, aneuploidy; and chromosomal aberrations: trisomy 13, trisomy 18, trisomy 21, Turner syndrome, Klinefelter syndrome.
Explain autosomal dominant inheritance and autosomal recessive inheritance, genes and tumours, genes and drugs, X-linked inheritance, X-linked dominant (XD) inheritance, X-linked recessive (XR) inheritance, Y-linked (holandric) inheritance, enzymopathies, haemoglobinopathies.
Upon completion of this course, students should be able to:
Explain the basic principles of human genetics and its medical applications.
Describe the underlying molecular mechanisms, diagnosis, treatment and management of several hereditary disorders.
Describe and explain the modes of genetic testing and explore ethical issues surrounding it.
Discuss current trends in gene therapy, personalised medicine and predictive medicine, and the issues surrounding these.
Analyse current scientific data and/or family histories and make appropriate diagnosticconclusions.
This course includes the following lecture topics per week:
1. Overview of Medical Genetics (Lecturer: Assoc. Prof. Peletu B.J.)
Introduction and history of medical genetics
Principles of genetic counseling
Introduction to population genetics
Introduction to diagnosis and treatment of hereditary disorders
2. Genetic Testing (Lecturer: Dr. Ikwuka A.O.)
Prenatal diagnosis and birth defects
Ethical implications of genetic testing
3. Single Gene Disorders (Lecturer: Dr. Ikwuka A.O.)
Underlying molecular mechanisms, clinical features, management and treatment of single gene disorders
Genetic testing for single gene disorders
4. Multiple Gene Disorders (Lecturer: Assoc. Prof. Peletu B.J.)
Underlying molecular mechanisms, clinical features, management and treatment of multiple gene disorders
Sickle cell anaemia
5. Chromosomal Abnormalities (Lecturer: Assoc. Prof. Peletu B.J.)
Underlying causes, clinical features, management and treatment of disorders due to chromosomal abnormalities
Genetic testing for chromosomal abnormalities
Down syndrome DiGeorge syndrome
6. Metabolic Disorders (Lecturer: Dr. Ikwuka A.O.)
Underlying molecular mechanisms, clinical features, management and treatment of metabolic disorders
Genetic testing for metabolic disorders
Glycogen storage disease
7. Mitochondrial Disorders (Lecturer: Dr. Ikwuka A.O.)
Underlying molecular mechanisms, clinical features, management and treatment of mitochondrial disorders and mitochondrial gene therapies
Genetic testing for mitochondrial disorders
8. Genetic Medicine (Lecturer: Assoc. Prof. Peletu B.J.)
Current trends in predictive medicine
Ethical implications of predictive medicine
Methods of Instruction:
- Discussion groups
- Guest lectures
- Projects (e.g. case studies, poster presentation, seminar presentation)
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- Reading of articles from relevant scientific journals
Methods of Course Assessment: Evaluation will be carried out in accordance with the university policy. The lecturer will present a written course outline with specific evaluation criteria at the beginning of the semester. Evaluation will be based on the following:
Individual Works/Tasks 10
Class Tests 10
Class Assignments 10
Final Examination 70
BIO 111 – General Biology I
BIO 101 – Practical Biology I
Recommended Reference Materials: Textbooks
1. Peter Turnpenny, Sian Ellard (2018) Emery’s Elements of Medical Genetics, 15th Edition
2. Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody (2020) Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics – Cardiovascular, Respiratory, and Gastrointestinal Disorders, 7th Edition
3. Tom Strachan, Andrew Read (2011) Human Molecular Genetics, 4th Edition
1. Journal of Medical Genetics (https://jmg.bmj.com)
2. European Journal of Medical Genetics (https://www.sciencedirect.com/journal/european-journal-of-medical-genetics/latest)
3. American Journal of Medical Genetics
Please click on the course content tab to have access to all required materials for this course.