Rochester Institute of Technology
Rochester, New York
COLLEGE of SCIENCE
Department of Biological Sciences
1.0 Title :
Date :
Genetic Diseases and Disorders Seminar
4 September, 2008
Credit Hours : 3
Prerequisite(s): 1001-421
Corequisite(s) : None
Course proposed by: Department of Biological Sciences
2.0 Course information:
Classroom
Lab
Studio
Other
Contact hours
3
Maximum students/section
25
Quarter(s) offered (check)
Fall _ Winter X Spring Summer
Students required to take this course : (by program and year, as appropriate)
None.
Students who might elect to take the course :
Students in the Bioinformatics, Biotech, and Biomedical Sciences programs with the appropriate prerequisite.
3.0 Goals of the course (including rationale for the course, when appropriate):
To give an understanding of how genes that predispose individuals to disease are identified and what some of the genes are for specific diseases and disorders. To provide experience reading primary literature and public speaking.
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4.0 Course description (as it will appear in the RIT Catalog, including pre- and corequisites, quarters offered)
1001-7xx Genetic Diseases and Disorders Seminar
The identification of genetic causes of disease has been one of the major scientific breakthroughs of recent history. In this course, we will examine a range of inherited diseases, how causative genetic variations were identified, and what this means for the treatment of the diseases. Scientific literature will be utilized, both current and historical. (1001-421) Class 3, Credit 3 (S, alternate years starting in 2008-2009)
5.0 Possible resources (texts, references, computer packages, etc.)
Forty-six peer-reviewed papers, both current and historical, to be re-evaluated on an annual basis. Examples include the below. A full list of papers from the Spring
2007 course are listed on the syllabus located at
“http://kimchi.rit.edu/~mosier/lab/courses/20072008/genbasis/”.
Razavi R, Chan Y, Afifiyan FN, Liu XJ, Wan X, Yantha J, Tsui H, Tang L, Tsai S,
Santamaria P, Driver JP, Serreze D, Salter MW, Dosch HM. (2006) TRPV1(+)
Sensory Neurons Control beta Cell Stress and Islet Inflammation in Autoimmune
Diabetes. Cell, 127:1123-1135. von Wowern F, Bengtsson K, Lindgren CM, Orho-Melander M, Fyhrquist F, Lindblad U,
Rastam L, Forsblom C, Kanninen T, Almgren P, Burri P, Katzman P, Groop L,
Hulthen UL, Melander O. (2003) A genome wide scan for early onset primary hypertension in Scandinavians. Human Molecular Genetics, 12:2077-81.
Hamshere ML, Williams NM, Norton N, Williams H, Cardno AG, Zammit S, Jones LA,
Murphy KC, Sanders RD, McCarthy G, Gray MY, Jones G, Holmans P, O'Donovan
MC, Owen MJ, Craddock N. (2006) Genome wide significant linkage in schizophrenia conditioning on occurrence of depressive episodes. J Med Genet,
43:563-567.
Paschou P, Feng Y, Pakstis AJ, Speed WC, DeMille MM, Kidd JR, Jaghori B, Kurlan R,
Pauls DL, Sandor P, Barr CL, Kidd KK. (2004) Indications of linkage and association of Gilles de la Tourette syndrome in two independent family samples:
17q25 is a putative susceptibility region. Am J Hum Genet, 75:545-560.
Guthrie R and Susi A. (1963) A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 32:338-343.
Lyons LB, Cox RP, Dancis J. (1973) Complementation analysis of maple syrup urine disease in heterokaryons derived from cultured human fibroblasts. Nature 243: 533-
535.
6.0 Topics (Outline):
Specific diseases may be modified in subsequent years.
6.1 Metabolic diseases
6.1.1 Phenylketonuria
6.1.2 Maple Syrup Urine Disease
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6.1.3 Lesch-Nyhan Syndrome
6.2 Quantitative traits
6.2.1 Diabetes
6.2.2 Familial Hypertension
6.3 Neuropsychiatric disorders
6.3.1 Schizophrenia
6.3.2 Autism
6.3.3 Tourette Syndrome
6.4 Gene mapping
6.5 Linkage analysis
6.5.1 Quantitative Traits
6.5.2 Neuropsychiatric disorders
6.6 Phenotype definition
6.6.1 Application to gene identification
7.0 Intended learning outcomes and associated assessment methods of those outcomes
Presentations
Learning outcome
7.1 Identify and assess possible ascertainment bias through incorrect phenotype definition.
7.2 Differentiate between metabolic and quantitative trait disorders.
7.3 Define DSM and ICD criteria for specific psychiatric disorders.
7.4 Identify basic methods of linkage analysis.
7.5 List genes associated with a particular disease
7.6 Demonstrate the ability to critically review primary literature.
X
X
X
X
X
X
Writing
Assignments
X
X
X
X
X
X
8.0 Program or general education goals supported by this course
8.1 To enhance the ability of students to read and critique primary literature.
8.2 To expand upon student backgrounds in human genetics.
8.3 To provide practice in public speaking.
8.4 To develop the student’s capacity for critical thinking and problem solving.
9.0 Other relevant information (such as special classroom, studio, or lab needs, special scheduling, media requirements, etc.)
Smart classroom with computer projection and DVD player.
10.0
Supplemental information
None.
Quizzes
X
X
X
X
X
X
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