Credit 2
Course # LS 506

  1. Organization of Human Genome and genes 
    1. General organization of human genome
    2. Mitochondrial genome organization
    3. Nuclear genome organization
    4. Banding techniques
    5. Protein coding genes
    6. Non-coding genes
    7. Repeat elements

  2. Mapping: Physical and genetic strategies in identifying human disease genes
    1. Mapping the human genome
    2. Techniques and technology available
    3. Beyond genomes

  3. Human Diseases 
    1. Mutations vs polymorphism
    2. Genes in pedigrees
    3. Genotype and phenotype correlation
    4. Allelic, locus, and clinical heterogeneity
    5. Complications to the basic pedigree patterns
    6. Non-penetrance, imprinting, anticipation
    7. Mitochondrial mutations

  4. Animal model for human diseases 
    1. Potential of using animal models for human diseases
    2. Why animal models
    3. Types of animal models
    4. Animal models for complex diseases

  5. Genetic testing and therapeutic approaches 
    1. Principles of molecular genetic based therapies
    2. Classical gene therapy
    3. Gene therapy for inherited disorders
    4. Gene therapy for complex disorders
    5. Genetic testing


  • 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.