Course Syllabus
Human Genetic Disorders MCELLBI 198 Section 008 (2 Units) Fall 2016 Class Time: Thursday 68PM Location: Hearst Field Annex B1 Facilitators: Kiarash Shamardani –
[email protected] Shadi Shams –
[email protected] Faculty of Record: Professor Craig T. Miller –
[email protected] Course Description: Study of human genetic disorders is a rapidly advancing field of medicine. It is now recognized that genetic mechanisms play a fundamental role in the pathogenesis and treatment of diseases as well as in maintaining our health. This course is designed to provide an overview of human genetic concepts and clinical disorders that have a genetic component in order to help students understand the basics of genetic disorders. The course seeks to familiarize students with different categories of genetic disorders affecting the human population in addition to the basics and principles of human genetics in order for the students to understand how genetic disorders are initiated, inherited to the next generation, and affecting the body. Moreover, this course will provide students with the most recent discoveries about the presented disorders. Class will begin with dividing the students into small groups in order to discuss their ideas regarding their assignment and the previous lecture presentation. The purpose of this activity is to reinforce the taught material in the previous week and refresh students’ memories around the taught topic. Then a class discussion would take place where groups will share their ideas with the class and answer any questions they have from the previous week or they come up with during their group discussions in order to clarify any ambiguities. Following the discussion, facilitators will present the topic of the week in the form of a presentation which would include the genetic fundamentals of disorder, the demonstrative phenotypes, the new discoveries around the indicated topic, and videos to visualize the discussed disorder. Lastly, the class would end with a Q&A regarding the presentation. The last portion of the course is designed to provide students with a chance to deeply study the disorder of their choice and be able to utilize what they have learned throughout the semester and present their chosen disorder to the class. The purpose of this activity is to create a collaborative atmosphere by increasing the sense of involvement and participation while showing students how effective and practical the taught material would be in their future educational career. In addition, weekly writing assignments will be given to reinforce the covered material and help students gain an understanding about the parts that were not clear at the time of the lecture.
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Course Learning Objectives: By the end of class: ● Students will be able to develop an understanding of the different major types of human genetic disorders through exploring various cases ● Students will be able to integrate all the taught materials and demonstrate their understanding of genetic disorders and involved biology and mechanism in the form of the representation ● Students will be able to recognize the mechanisms of human heredity and how our understanding of them is revealed through various scientific experimentation methods ● Students will be able to understand the location, transmission, structure, and the function of genes encoding specific traits ● Students will be able to demonstrate their understanding of the effects of mutations, genes implicated in human genetic disorders, and population genetics ● Students will be able to develop an appreciation of the rapidly evolving field of human genetics and an understanding of the potential impact genetics will have on our society Literature Texts: ● National Human Genome Research Institute Genetic Disorders o Free online access: www.genome.gov/10001204/specificgeneticdisorders/ ● Supplemental: Genetic Disorders edited by Maria Puiu ○ Free online access: www.intechopen.com/books/geneticdisorders ● Supplemental readings (mostly recent papers) will be posted on bCourses Grading (P/NP): Although this is a DeCal class, this does not entitle to you to slack off on work that would best benefit you and come late to class repeatedly without an excusable reason. That being said, there are no exams or discussions, but your grade will be determined heavily based on the attendance(30%), weekly reading assignments and written homework assignments(30%), in addition to whether you completed the Genetic Disease presentation (40%) and cooperated with your teammates. In order to obtain a passing grade for the class, your overall grade should be 70% or above. Attendance and Participation (30%): ● Attendance will be taken at the beginning of class ● To pass you must have no more than 3 unexcused absences or 6 tardies o 2 tardies = 1 unexcused absence o Leaving early without prior approval (24 hours advance notice) = 1 unexcused absence o You will lose points for each unexcused absence and after 3 unexcused absences, you will automatically receive a No Pass grade
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● Excused absences are scheduled conflicts such as exam times, doctor’s appointments (with doctor’s note) emailed to the facilitators 24 hours in advance or other emergency situations ● Attendance in the last class on December 1, 2016 is mandatory o During this class you will fill out the course evaluations and participate in an endofsemester review of the class discussion Weekly Assignments (30%) and Group Presentation (40%): ● Weekly written assignments will be graded based on the following: o Pass = Answered all questions o No Pass = Did not answer questions, did not follow format criteria. Please redo the assignment to receive a passing grade on the assignment. ● To be considered a complete homework assignment: o Doublespaced, 12 point Times New Roman font with 1 inch margins o Minimum length of 200 words o You may turn in a paper copy or through bCourse o Turn in 6 out of the 9 assignments (Each worth 5%) ▪ Assignment 9 is required to be one of the 6 and the rest are extra credit ● Complete and present the group Genetic Disorder presentation (40%) o Write one question for writing assignment of the week o 15 minute group presentation on a genetic disease of your choice o Followed by a 5 minute Q&A discussion o Half of the grade based on self and group evaluation Academic Integrity: Plagiarism is considered academic dishonesty and any plagiarism on assignments in this class will result in a NO PASS grade, as well as possible disciplinary action from the University Office of Student Conduct. Accommodations: If you have a disability that requires accommodation either in class, or for the assignments, please let the facilitators know immediately and provide documentation from DSP. In addition, please let the facilitators know when I can provide assistance and/or other types of helpful accommodations that will allow you to be successful in this course.
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Lecture Schedule: Schedule is tentative and is subject to change. Week 1
Date September 1, 2016
Topic Introduction: The basics on genetics and genetic disorders Point mutation caused diseases 1: TaySachs Disease, Sicklecell diseases, Cystic Fibrosis, Mention color blindness Point mutation caused diseases 2: Hemophilia, Haemochromatosis, Phenylketonuria, Policy cystic kidney disease, Angelman Syndrome Deletion caused diseases 1: Deletion Syndrome, Cri. Du Chat Deletion caused diseases 2: Duchenne muscular dystrophy, PrayerWilliam syndrome, Spinal muscular atrophy Extra or missing whole chromosome caused diseases 1: Spinal muscular atrophy, Down syndrome Extra or missing whole chromosome caused diseases 2: Klinefelter syndrome, PraderWilli Syndrome, Turner syndrome Xlinked syndromes: X Chromosome Aneuploidies, Color blindness, Fragile X syndrome Rare genetic diseases: Wilson disease LiFraumeni Syndrome
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September 8, 2016
3
September 15, 2016
4
September 22, 2016
5
September 29, 2016
6
October 6, 2016
7
October 13, 2016
8
October 20, 2016
9
October 27, 2016
10
November 3, 2016
Genetic Disorder group presentations
11
November 10, 2016
Genetic Disorder group presentations
12
November 17, 2016
Genetic Disorder group presentations
13
November 24, 2016
14
December 1, 2016
Thanksgiving Holiday Endofsemester discussion and potluck
15
December 8, 2016
RRR Week
Assignment Due Student expectation and their desire to learn from this class Point mutation 1 Assignment
Point mutation 2 Assignment Deletion 1 Assignment Deletion 2 Assignment Total chromosome deletion 1 Assignment Total chromosome deletion 2 Assignment XLinked syndrome Assignment Rare Genetic Disease Assignment Team Teach Assignment (Assigned by the group presenters) Team Teach Assignment (Assigned by the group presenters) Team Teach Assignment (Assigned by the group presenters) Happy Thanksgiving! Course Evaluation Good luck on your finals:)
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Reading Schedule: Schedule is tentative and is subject to change. Week
Date
1
September 1, 2016
2
September 8, 2016
3
September 15, 2016
4
September 22, 2016
5
September 29, 2016
6
October 6, 2016
7
October 13, 2016
8
October 20, 2016
9
October 27, 2016
10
November 3, 2016
11
November 10, 2016
12
November 17, 2016
13 14 15
November 24, 2016 December 1, 2016 December 8, 2016
Assigned Reading www.genome.gov/pages/education/modules/basicspresentation.pdf www.nlm.nih.gov/exhibition/harrypottersworld/pdf/prelesson.pdf www.genome.gov/10001219/learningaboutsicklecelldisease/ www.genome.gov/10001220/learningabouttaysachsdisease/ www.genome.gov/20019697/learningabouthemophilia/ www.genome.gov/10001214/learningabouthereditaryhemochromatosis/ www.genome.gov/19517558/learningaboutcriduchat/ www.genome.gov/19518854/learningaboutduchennemusculardystroph/ www.genome.gov/20519681/learningaboutspinalmuscularatrophy/ www.genome.gov/19517824/learningaboutdownsyndrome/ www.genome.gov/19519068/learningaboutklinefeltersyndrome/ www.genome.gov/19519119/learningaboutturnersyndrome/ www.genome.gov/19518828/learningaboutfragilexsyndrome/ cdn.intechopen.com/pdfswm/36870.pdf www.genome.gov/27532725/learningaboutwilsondisease/ Team Teach Assigned Readings (Assigned by the group presenters) Team Teach Assigned Readings (Assigned by the group presenters) Team Teach Assigned Readings (Assigned by the group presenters) Happy Thanksgiving! Course Evaluation RRR Good luck on your finals:)