Instructor:
Linda L. Restifo, MD, PhD
Prof. of Neurology, Neuroscience, and Cellular & Molecular Medicine
Member, GIDPs in Genetics, Neuroscience, and Insect Science
LLR@email.arizona.edu; 520-621-9821
Time: Tuesdays & Thursdays, 10:30 - 12 noon
Place: Life Sciences North 452
Format: Introductory lectures by the instructor (classification of human disease, differential diagnosis, types of mutations, and genetic technology), followed by student presentations. We focus on FOUR topics (one from each module below) representing a range of genetic mechanisms, disease pathogenesis, and organ system involvement.
CMM 695D Disease topics include:
Module I: Cystic fibrosis; spinal muscular atrophy, Duchenne muscular dystrophy, fragile X syndrome (FXS);
Module II: Cardiomyopathies; Alzheimer’s disease; amyotrophic lateral sclerosis (ALS), deafness, epilepsy;
Module III: Asthma, multiple sclerosis (MS), type-1 or type-2 diabetes mellitus;
Module IV: Schizophrenia, autism spectrum disorder (ASD), systemic lupus erythematosis (SLE).
Readings: primarily from the biomedical literature.
- Student presenters will select assignments in consultation with the instructor.
- Highly recommended: Thompson & Thompson Genetics in Medicine, 7th ed.
- Use of a medical dictionary is essential.
Educational goals:
- approaching the study of any human disease topic;
- understanding historical changes in research approaches to a disease;
- critical analysis of research on disease genetics and pathophysiology;
- understanding the range of genetic causation of and risk for disease;
- evaluation of animal models of disease;
- understanding the challenges in translational medicine for therapeutics;
- effective, professional presentation skills and peer review;
- appreciating the challenge of classification of human disease.
Student assessment:
Student’s presentations (50%) and participation in class discussion (50%)
Prerequisites:
Graduate-level genetics, molecular biology, or biochemistry; some knowledge of mammalian anatomy/physiology is helpful.
Notes:
- This course is cross-listed with BIOC, GENE, MCB, PSIO, and 695D.
- This course is complementary to Dr. Vercelli’s Biology of Complex Diseases (595H). Many students find it valuable to take both courses (in either order).