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Course Objectives:
Basic Medical Genetics (GMS 6012) presents a concise introduction to one of the most
rapidly advancing fields of medicine. While often regarded as the youngest of the
medical specialties, an understanding of
genetic principles is integral to all aspects of
biomedical science.
Genetics, as a
discipline, is juxtaposed between clinical
medicine and the basic sciences, and is
essential to understanding the nature of
inheritance and transmission patterns of
various genetic diseases that affect human
health and well-being.
This
course
emphasizes
a
fundamental understanding of the principles
of medical genetics, focusing on both basic
principles and important clinical applications.
The course features topics such as patterns of inheritance, population genetics,
chromosomal abnormalities, single gene defects, triplet expansion errors, the genetics
of cancer, linkage analysis, multifactorial disorders, medical genomics, personalized
medicine, prenatal diagnosis, genetic counseling and ethics. The course develops a
broad and thorough understanding of the principles of human genetics and identifies the
major clinical conditions that perturb the functioning of normal cells, tissues and organs
and influence development. All material is presented in the context of modern medicine
such that at the completion of the course, students will be able to:
1. Describe how genetic factors predispose to Mendelian and multifactorial
diseases and the implications of such predispositions for disease diagnosis,
treatment and prevention.
2. Explain the clinical manifestations of common Mendelian diseases.
3. Identify the clinical features of common chromosomal aneuploidies and the signs
generally associated with other kinds of chromosomal imbalance.
4. Describe how constitutional and acquired genetic alterations can lead to the
development of malignant neoplasms and how identification of these changes
can be used in the diagnosis, management and prevention of malignancy.
6. Understand the procedures that are generally employed for prenatal genetic
diagnosis and the indications for such testing together with the advantages,
limitations, and disadvantages of pre-symptomatic testing for genetic disease.
7. Explain the existence of and justification for screening programs to detect genetic
disease, and the difference between screening and more definitive testing and
describe the differences in goals and approach among screening programs for
genetic diseases in newborn infants, pregnant women, and other adults.
Course Meetings:
None
Location:
Web-based course located on Canvas accessed through my.usf.edu
Course Prerequisites:
Admission to the Health Sciences concentration in the Masters in Medical Sciences
program requires that students have completed a bachelors degree or its equivalent
from any accredited college in any of the biological or chemical sciences; achieved a
minimum undergraduate GPA of 3.0 on a 4.0 scale and demonstrated qualitative and
quantitative skills by the successful completion of either MCAT and GRE standardized
tests.
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6.
Step 1- Obtain a USF ID card (go to step 2 if you have a USF card)
Most Distance Learning Students do not have a USF ID Card Number. To apply for a
USF Card go to the
website https://secure.touchnet.com/C20235_ustores/web/product_detail.jsp?PRODUC
TID=2488 (It takes 1-2 weeks for the USF Card Office to process your
application). NOTE: It is the students responsibility to get the USF Card before the start
of the Semester, and to use the information on the ID card to obtain a NetID and access
the course (see steps 2-3)
Step 2- Create your NetID (go to step 3 if you have a NetID)
The courses secure website is located in Canvas within the USF Web Portal
(https://my.usf.edu/). In order to access the Portal, the student must have a:
NetID
Login name
Password
In order to establish a NetID login name and password, you will need the following: Date
of Birth, Social Security Number, and USF ID Card Number (see step 1).
Step 2a:
To get your NetID, go to: https://netid.usf.edu/una/?display=activate
Enter your first name
Enter your last name
Enter the first 16 digits located on your USF ID card
Enter your date of birth
Enter the last four digits of your Social Security Number
Click on the Activate NetID button
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2.
3.
4.
5.
6.
Step 2b:
Follow the steps to change your password
Step 3: Use your NetID, password and login name to enter the course on Canvas
Open your internet connection, and at the top of the browser:
Type https://my.usf.edu/
Type your NetID (and press the Tab key)
Type your password
Press ENTER or- click the Sign In button
Select the Learning and & Teaching Tools menu
Click on Canvas
Technology Requirements:
General Technology Requirements:
All registered students must meet the minimum technical requirements. For details visit:
http://hsccm.hsc.usf.edu/medicine/graduatestudies/Technology+Requirements.htm
Specific Course Technology Requirements:
This course may require the student to view/listen to narrated presentations, videos,
and participate in audio-conferencing. Therefore, in addition to the general technology
requirements, this course will require the following:
Adobe Acrobat:
http://www.adobe.com/products/acrobat/readstep2.html
QuickTime player:
http://www.apple.com/quicktime/download/index.html
Flash player:
http://www.macromedia.com/software/flashplayer/
Microsoft PowerPoint
Microsoft Word
It is the students responsibility to meet the above mentioned technical requirements
before the start of the semester.
Course Format:
This course is a web-based course. Course materials and assignments will be posted
on the course website (Canvas). The course is divided into 5 Units and 2 Sections,
with 3 Units in the First Section and 2 Units in the Second Section.
Each Unit will consist of:
Reading Assignments, including case studies: Specific chapters in the textbook
required for the course will be assigned for each online PowerPoint presentation. The
reading assignments are background for the recorded presentations, which represent
the main goals of the course. It is essential that students complete the reading
assignments for comprehension of each unit. In addition, several questions for each
exam will be taken from the reading assignments, from textbook questions associated
with the reading assignment; from additional questions online at studentconsult.com;
and from the case studies online at studentconsult.com. The additional questions and
the case studies at studentconsult.com are available to the students using a code from
the textbook, following purchase.
Additional case studies will be included in the PowerPoint presentations
Quizzes: For each chapter in the reading assignment, a quiz will be posted on Canvas
with which students can self-assess their level of comprehension of the reading
assignment. Grades will be posted in the grade book for each quiz, but the quiz grades
will not be included in the calculation of the final course grade.
PowerPoint Presentations: Presentations in narrated power point format will be
included for each unit. These presentations are intended to focus students on the main
educational goals of the course; to extend the information on a topic beyond the reading
assignments; and to emphasize the clinical importance as related to the unit topic.
Class Discussions: For each Unit, class discussion topics will be introduced. All
students are expected to participate in the class discussions. Each student is expected
to post a topic for discussion and to answer at least two other students discussion posts
before the start of the next Unit in order to receive credit.(See Appendix C for further
guidelines)
Each Section will consist of:
Section Reports: Each student will choose a personal, specific topic, and produce and
submit an original in-depth report on that topic. Reports are required to be no more
than 3 pages in length, succinctly written, meeting all guidelines. Grades received
for section reports will be included in the final course grade calculation. See Appendix
B for writing guidelines and Appendix C for the grading rubric for section reports.
Section Report Policies:
Section Report Submission Format: All section reports must be submitted in
PDF format by way of Canvas. Section reports can be checked for compliance
with the Universitys academic rules using the turnitin assignment located in
Canvas. If you encounter difficulties in submitting a report, you should send the
results to the instructor as an attachment to an email the same day.
Deadline Extensions for Submission of Section Reports: Late submissions of
Course Reports will result in a 5% grade deduction for each day late.
Quizzes:
There will be a quiz for each of the assigned chapters of the textbook. Each quiz will be
composed of 5 questions selected from a pool of questions that pertain to the
powerpoint presentations and the reading assignments. All quizzes will be delivered
through the Canvas portal. Before you can take the Unit exam you must obtain a score
of 4 points or better on each of the chapter quizzes. The quizzes can be taken as many
times as you wish so that you can determine your level of understanding of the reading
material. The quiz scores will NOT count as part of your grade.
Exams:
All exams will be delivered through the Canvas portal. There will be three Unit Exams
in addition to a comprehensive Midterm Exam, end of Section 1 (i.e., end of Unit 3);
and comprehensive Final Exam, end of course (i.e., end of Section II, end of Unit 5).
You may not copy or reproduce any exam or exam question.
Unit Exams: The unit exams will be comprehensive of all material covered during that
unit. Some of the questions for the each Unit Exam will be taken from the pool of
questions used for the quizzes and the case studies. Some of the questions will
represent virtual verbatim copies of the summary statements for the PowerPoint
presentations. The days and time during which the exam will be available for each unit
will be identified in the course calendar. During the time allotted for each Unit exam, you
will be allowed a single opportunity to complete the Unit 2 and 4 exams. For the Unit 1
exam, you will be allowed two (2) opportunities to complete the exam, with the score on
the second attempt included in the final grade calculation. The two attempts at the first
unit exam are provided to allow students to familiarize themselves with the type of
questions and exam format. Multiple attempts will NOT be allowed for any other exam.
Be aware of the time allotted for the exam. If you exceed the time allowed, you will
receive a deduction of 1 point in your overall score for every additional minute.
Also, you are not be permitted to go backwards to review previous exam
questions since this will lock you out of the remaining exam.
Comprehensive Midterm Exam: This exam will be comprehensive of all material
covered in Units 1-3 of the course. Some of the questions for the each Unit Exam will be
taken from the pool of questions used for the quizzes and the case studies. Some of the
questions will represent virtual verbatim copies of the summary statements for the
PowerPoint presentations. The Midterm exam will be given at the end of Unit 3. The
specific days and time during which the Midterm exam will be available will be identified
in the course schedule. You will be able to take the Midterm exam only once and a
time limit of 2 hours will be imposed. Again, if you exceed the time limit you will
receive a deduction of 1 point in your overall score for every additional minute.
Comprehensive Final Exam: This exam will be comprehensive of all material covered
during the course. About 30% of the questions for the Comprehensive Final Exam will
be taken from the pool of questions used for the quizzes. The specific days and time
during which the Final exam will be available will be identified in the course schedule.
You will be able to take the Final exam only once and a time limit of 2 hours will
be imposed with overtime penalties the same as for the Midterm and Unit exams.
Final course grade will be based on a percentage performance basis for the course
using the following grading scale:
B+
C+
D+
F
87-88, 3.33
77-78, 2.33
67-68, 1.33
<59, 0.00
A
B
C
D
92-100, 4.00
82-86, 3.00
72-76, 2.00
62-66, 1.00
ABCD-
89-91, 3.67
79-81, 2.67
69-71, 1.67
59-61, 0.67
Course Overview:
This graduate-level course is directed towards students who have an interest in the
medical sciences or who are focused on future medically-related or allied health
careers. Students interested in pursuing a medical or health-related career require
familiarity with the diverse
aspects
of
biomedical
sciences that include the
essentials
of
medical
genetics. Medical genetics
represents a broad and
varied field. It features a
number of areas including
clinical
genetics,
biochemical
genetics,
cytogenetics,
molecular
genetics
and
genetic
counseling. Understanding
the principles that govern
the topics of genetics,
genomes and genes together with the various modes of genetic inheritance and genetic
variation are some of the cornerstones of a health sciences-related education.
Basic Medical Genetics is one of a new group of graduate courses in the College of
Medicine to be developed in a distance format that will cater to students who are
currently employed and cannot accommodate the schedules of the regular didactic
courses that are offered during the traditional College of Medicine academic schedule or
are geographically distant from the institution. This course is part of the Health
Sciences concentration in the Masters Program in Medical Sciences that provides a
valuable opportunity for advanced-degree seeking students to gain a deeper
understanding of the principles of modern biomedical sciences.
The course content follows a traditional curriculum in medical genetics and focuses on
the study and characterization of genes, chromosomes and genetic variation. Course
topics include the functional properties of genes and chromosomes, autosomal and
recessive inheritance, sex-linked mitochondrial inheritance, clinical cytogenetics and the
chromosomal basis of human disease. Additional topics include a concise overview of
biochemical genetics and disorders of metabolism, gene mapping and cloning,
immunogenetics, developmental genetics, multifactorial inheritance, medical genomics,
personalized medicine, genetic counseling and gene therapy and genetic screening and
prenatal diagnosis.
The fully on-line mode of delivery of the course also enables geographically-dispersed
students or those currently engaged in full-time employment, convenient access to the
courses and the program.
The course material is presented in a modular format which presents the essential
information in an integrated approach. The various modules are supplemented with a
number of case studies that reinforce the medically-related aspects of the material.
The course requires extensive on-line participation plus additional hours of reading,
writing, and research. Course participants will be introduced to the modern principles of
medical genetics and the bases for many inheritable diseases. All course work can be
accomplished on a participants' home computer. There will be extensive online
discussions with other course participants.
Discussions:
Discussions are asynchronous, meaning that participants post messages to discussion
lists anytime. However, because exchange of ideas is so important, participants will
have to be working on the same topics at roughly the same time. Therefore, you will
have to participate in the discussions on a regular basis during the course to earn credit
for the discussions.
Attendance Policy:
Students are expected to be active members of the class. At a minimum each student
should log into the class four times each week to check for announcements and to
participate in the class discussions.
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Course Materials:
Access to course materials is limited to individuals registered for the course. Students
are not permitted to copy any of the course materials for sale or distribution to other
individuals.
Course Textbook:
Elseviers Integrated Review Genetics, second edition (Adkison, L.) Elsevier,
2007, 2012; ISBN: 978-0-323-07448-3
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Disability accommodation:
Information regarding qualifications for student disabilities through the Disabled Student
Academic Services Office (DSA) at the University of South Florida can be found online
at: http://download.grad.usf.edu/PDF/section14.pdf. Students can also directly contact
the DSA for arrangement of academic accommodations and assistance at (813) 9744309, SVC 2043, Coordinator of Disabled Student Academic Services.
Safe Assignment:
The University of South Florida has an account with an automated plagiarism detection
service which allows instructors to submit student assignments to be checked for
plagiarism. The instructor reserves the right to 1) request that assignments be submitted
as electronic files and 2) electronically submit assignments to SafeAssingment.com.
Assignments are compared automatically with a huge database of journal articles, web
articles, and previously submitted papers.
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Chapter 2:
Chapter 3:
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Chapter 5:
Understand how the regulation of the cell cycle impacts our understanding of the
genetic basis of cancer.
Define oncogenes, their activation and the mechansims by which they cause
cancer.
Discuss the role of tumor suppressor genes and their role in controlling cell
division.
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Review DNA repair mechanisms and how impairment of this system may
promote cancer.
Explain the role of apoptosis and why its functional status is important in
preventing cancer.
Discuss the role of telomeres in chromosome stability.
Discuss DNA-based cancer screening methods and how they are used in
diagnosis and treatment of cancer.
Understand basic uses of the COSMIC web pages, related to tumor mutations.
Chapter 7:
Chapter 8:
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Appendix A
University
of
South
Florida
Student
Conduct
Policies:
http://www.sa.usf.edu/
Online Conduct/Academic Dishonesty:
All members of this course shall foster an environment that encourages adherence
to the principles of honesty and integrity. All parties shall protect the integrity of
academic materials including test materials, copyrighted documents, and all related
course work.
Students are expected to represent themselves honestly in all work submitted. The
presence of a students name on any material submitted in completion of an
assignment is considered to be an assurance that both the work and ideas are the
result of the students own intellectual effort, and produced independently.
Collaboration is not allowed unless specifically permitted by the instructors.
All course participants are expected to respect others personal feelings; have the
right of freedom to hear and participate in dialogue and to examine diverse ideas;
and have the right to a learning environment free from harassment and
discrimination; and the responsibility that free discussion represents the scholarly
nature of the learning community.
Cheating (the unauthorized giving, receiving, or use of material or information in
quizzes, assignments or other course work or the attempt to do so) or plagiarism
(the use of ideas, data or specific passages of another persons published or
unpublished work that is either unacknowledged or falsely acknowledged) is not
acceptable in this course.
Academic Dishonesty & Disruption for Academic Process Policy
See http://www.sa.usf.edu/handbook/03/academics/ImportantAcademicPolicies.htm
Plagiarism & Punishment Guidelines for Plagiarism:
See http://www.sa.usf.edu/handbook/03/academics/ImportantAcademicPolicies.htm
Plagiarism is defined as literary theft and consists of the unattributed quotation of the
exact words of a published text, or the unattributed borrowing of original ideas by
paraphrase from a published text. On written papers for which the student employs
information gathered from books, articles, or oral sources, each direct quotation, as well
as ideas and facts that are not generally known to the public at large, or the form,
structure, style of a secondary source must be attributed to its author by means of the
appropriate citation procedure. Only widely known facts and thoughts and observations
original to the student do not require citations. Citations may be made in footnotes or
within the body of the text. Plagiarism, also, consists of passing off as ones own,
segments or the total of another persons work.
Cheating is defined as follows:
(a) the unauthorized granting or receiving of aid during the prescribed period of
a course-graded exercise: students may not consult written materials such as
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notes or books, may not look at the paper of another student, nor consult orally
with any other student taking the same test;
(b) Asking another person to take an examination in his/her place;
(c) Taking an examination for or in place of another student;
(d) stealing visual concepts, such as drawings, sketches, diagrams, musical programs
and scores, graphs, maps, etc., and presenting them as one's own;
(e) Stealing, borrowing, buying, or disseminating tests, answer keys or other
examination material except as officially authorized, research papers, creative papers,
speeches, etc.
(f) Stealing or copying of computer programs and presenting them as one's own. Such
stealing includes the use of another student's program, as obtained from the magnetic
media or interactive terminals or from cards, print-out paper, etc.
Punishment for such Academic Dishonesties will depend on the seriousness of the
offense and may include receipt of an F or O grade on the subject paper, lab report,
etc., an F in the course, suspension or expulsion from the University. The University
drop policies and forgiveness policies shall be suspended for a student accused of
plagiarism or cheating or both.
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Length
Margins
Spacing
Font Size
Font Styles
Illustrations
Title
Format
Section I and II reports: Your report on the disorder should be subdivided into the
following sections.
1.
2.
3.
4.
5.
Assessment of reports
Reports should be succinct and emphasize molecular relationships. The report should
reflect the scientific basis of disease with only a minimal treatment of non-scientific
patient information. For example, long-winded comments about how difficult certain
conditions and therapies are for the patient, or explanations of why the student is
interested in a certain disease, will lead to low-grades.
Higher grades are reserved for detailed molecular and biochemical explanations,
possibly with an original diagram or two, that reflect sophisticated science and original
learning on the part of the student, i.e., not a repetition of class material or subjects.
The most successful reports will (accurately) reference at least some original literature
from pubmed.com rather than being completely based on lay-person web pages, such
as the NIH or CDC or WebMD.
Attribution:
All works and illustrations used in your report must be cited; this means crediting the
source where you found the information you used to support your work. If you fail to
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give credit for copyrighted information, this constitutes plagiarism and you will be
penalized. The references are not included in the 3 page limit.
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Graduate Programs in
Integrated Biomedical Sciences
Office of Graduate & Postdoctoral Affairs
School of Biomedical Sciences
Morsani College of Medicine
USF Health
12901 Bruce B Downs Blvd., MDC 40
Tampa, FL 33612-4742
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