Session 9: Class Discussion - Genetic Diseases

9/8/05

Dr. J. Calvet, 6001B WHE, 588-7424, email: jcalvet@kumc.edu

Reading Assignment:

Nussbaum, R.L. et al. "Thompson & Thompson Genetics in Medicine," 6th edition (Revised Reprint), Saunders, 2004. Chapters 1- 6; Clinical Cases: Familial Hypercholesterolemia, Xeroderma Pigmentosum, Hemophilia, Thalassemia, I-Cell Disease, p. 215; Telomerase pp. 318-320.

Baynes, J. and Dominiczak, M.H. "Medical Biochemistry," (2nd edition) Mosby, 2004. Chapters 29-33.

Internet Resources:

Online Mendelian Inheritance in Man (http://www3.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM)

Click here for the case histories, questions, and answers for Session 9 and PDF
If you download in Microsoft Internet Explorer, right click on the first slide of the lecture and click on "Edit Slides" to get into PowerPoint to see the notes as well as the slides.

Learning Objectives for Session 9:
  • Read the History and Physical Findings and the text associated with each assigned disease - Thalassemia and I-Cell Disease
  • Be prepared to answer and discuss the questions associated with each disease, which are provided in the PowerPoint notes
  • Be prepared to discuss the article by Botchkina et al. (see PDF)
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Session 5
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Lecture 10

Molecular and Human Genetics
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