BIO 425/525
Human Genetic Diseases
Spring 2012
The aim of this class is to help students gain a sufficient understanding of human genetics so that they can appreciate the genetic basis of human diseases, and the importance of genetic considerations in the prevention and treatment of diseases. This course will use a literature-based approach to cover the fundamentals, from the chromosomal basis for hereditary to the molecular and biochemical basis of genetic diseases as well as the current molecular diagnostic and treatment methods available for genetic diseases. A combination of classic and current papers will be used.
1 unit
Prerequisite: Genetics (319) or permission from instructor
Time and Location: F 10-12.50pm (2 hour class, course runs 3/23/2012-4/27/2012)
Instructor: Dr Shermali Gunawardena
Grading: Undergraduate and graduate students will take turns presenting primary literature to the class. Students will also write a 2 page summary report on the paper they present. Final grades will be based on the presentations, class participation and summary report.
Makeup policy: Make-up presentations will only be given for medical reasons and will be evaluated on a case by case. You must submit a signed doctor’s note to be considered for a make-up. Attendance in every class is a must unless for medical reasons, but absence for only one class period will be allowed to receive a passing grade.
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Tentative Topic outline:
- Human genome and the chromosomal Basis of Heredity
- Tools of Human Molecular Genetics
- Principles of Cytogenetics and Disorders of Autosomes and Sex Chromosomes
- Mechanisms of Inheritance: Mendelian Patterns and Imprinted, and Multifactorial Patterns
- The Genetic Contribution to Disease: Locating and identifying Disease Genes
- Principles of Molecular Disease: Lessons from the Hemoglobinopathies
- The Molecular and Biochemical Basis of Genetic Disease
- Molecular Diagnostics and prenatal diagnosis
- Treatment of Genetic Disease
- Genetic Counseling and Risk Assessment
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