.
HUMAN GENETICS
Credit 2
Course # LS 506
- Organization of Human Genome and genes
- General organization of human genome
- Mitochondrial genome organization
- Nuclear genome organization
- Banding techniques
- Protein coding genes
- Non-coding genes
- Repeat elements
- Mapping: Physical and genetic strategies in identifying human disease genes
- Mapping the human genome
- Techniques and technology available
- Beyond genomes
- Human Diseases
- Mutations vs polymorphism
- Genes in pedigrees
- Genotype and phenotype correlation
- Allelic, locus, and clinical heterogeneity
- Complications to the basic pedigree patterns
- Non-penetrance, imprinting, anticipation
- Mitochondrial mutations
- Animal model for human diseases
- Potential of using animal models for human diseases
- Why animal models
- Types of animal models
- Animal models for complex diseases
- Genetic testing and therapeutic approaches
- Principles of molecular genetic based therapies
- Classical gene therapy
- Gene therapy for inherited disorders
- Gene therapy for complex disorders
- Genetic testing
Evaluation:
- There will 2 exams: Mid-semester and Final. Each exam will be closed book and of 20 marks each.
- There will be 4 assignments of 10 marks each. These assignments will place emphasis on developing writing as well as analytical skills.
- Discussion/blog: In addition, 20 marks will be assigned to participation in discussion/blogs. Extra marks will be given for initiating discussions.
Recommended reading:
-
Human Molecular Genetics by Strachan and Read. This book is available from NCBI site as well as in your library.
-
In addition, for each section there will be recommended papers to read.
Office hours:
There are no formal office hours to meet me. If you have any problems with the course work, please stop by Room # 333.
Classes will begin at 9.00 am sharp on Tuesdays and Thursdays. I request all of you to be punctual. Please remember NOT to enter the class if you are late beyond five minutes as it disrupts the flow.
.