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Basic Medical Genetics (online, spring 2015, subject to change) GMS 6012 Department of Molecular Medicine Morsani College of Medicine at USF

GMS 6012 Basic Medical Genetics Syllabus Spring 2015, Blanck v4

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Page 1: GMS 6012 Basic Medical Genetics Syllabus Spring 2015, Blanck v4

Basic Medical Genetics (online,

spring 2015, subject to change)

GMS 6012

Department of Molecular Medicine

Morsani College of Medicine

at USF

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BASIC MEDICAL GENETICS (online) (GMS 6012)

Course Director: George Blanck, Ph.D.

(813) 974-9585

[email protected]

Course Format: This course is delivered entirely “on-line” using Canvas accessed

through the USF portal (my.usf.edu).

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.

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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.

5. Explain how knowledge of a patient's genotype can be used to develop a more effective approach to health maintenance, disease diagnosis, and treatment for that particular individual.

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.

8. Explain the conventional approaches to treatment of genetic diseases and the general status of gene-based therapies and what exposures are likely to be teratogenic in humans and how such exposures can be prevented.

Course Duration and Mode of Study:

Basic Medical Genetics is designed to be completed in one semester. All the components of the course are delivered using a fully “on-line” format and make extensive use of the “Canvas” academic learning environment. The course has been developed using a modular format that allows each student to complete the various sections within a given schedule. This flexible approach results in enhanced information retention and enables students to tailor the course delivery to match their own schedule.

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Instructor’s Office Hours: There are 3 modes: 1) Office meetings - by appointment 2) Email - anytime – (The instructor will make every effort to respond within two business days) 3) Telephone – by appointment

Course Meetings: None

Location: Web-based course located on Canvas accessed through my.usf.edu

Course Credit Hours: 3 credit hours: Students are expected to allot a minimum of 9 hours per week.

Course Prerequisites: Admission to the Health Sciences concentration in the Master’s in Medical Sciences program requires that students have completed a bachelor’s 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.

Who To Contact and How: For course content related questions - contact the instructor directly. For problems accessing the course materials - contact the instructor directly. For computer related technological support & Canvas problems - (i.e., computer questions, access to Canvas, USF email, USF portal, cannot access the course, browser issues), please contact Academic Computing helpline at (813) 974-1222 or [email protected]

Course Evaluation by Students:

There will be an online evaluation questionnaire from the University distributed towards the end of the course, which can be accessed from Oasis.

In addition, we may be asking for your feedback on the course, materials, delivery methods, technology and research skills and technology-related issues you encounter during the course.

An announcement will be made on the course website when these evaluations are available.

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How Do I Access The Course Website? 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?PRODUCTID=2488 (It takes 1-2 weeks for the USF Card Office to process your application). NOTE: It is the student’s 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 course’s 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

1. Enter your first name 2. Enter your last name 3. Enter the first 16 digits located on your USF ID card 4. Enter your date of birth 5. Enter the last four digits of your Social Security Number 6. Click on the Activate NetID button

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:

1. Type https://my.usf.edu/ 2. Type your NetID (and press the Tab key) 3. Type your password 4. Press ENTER –or- click the Sign In button 5. Select the Learning and & Teaching Tools menu 6. 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:

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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 student’s 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.

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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 University’s 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

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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.

Student Performance and Final Course Grade Calculation: Your final course grade will be determined by combination of your percent score for the Section Reports, Unit Exams, Comprehensive Midterm Exam and Comprehensive Final Exam as follows. Discussion 10% - ( 2% for each unit discussion) Unit Exams: 30% - (10% for each of 3 Unit Exams) Section Reports: 20% - (10 % for each of 2 Section Reports) Comprehensive Midterm Exam 20% Comprehensive Final Exam 20%

Final course grade will be based on a percentage performance basis for the course using the following grading scale:

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Letter Grade, Grade, Quality Points

A 92-100, 4.00 A- 89-91, 3.67 B+ 87-88, 3.33 B 82-86, 3.00 B- 79-81, 2.67 C+ 77-78, 2.33 C 72-76, 2.00 C- 69-71, 1.67 D+ 67-68, 1.33 D 62-66, 1.00 D- 59-61, 0.67 F <59, 0.00

"I" (Incomplete grade) Policy: Incomplete grades will not be applied in this course without extenuating, documented circumstances, such as death in the family or extended illness. Be sure to provide the instructor with suitable documentation. "I" requests must be made and valid documentation provided before the course is over and grades have been issued. If you haven't earned a final grade by the end of the following semester, your grade will convert permanently to an "F".

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

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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 Master’s 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:

“Elsevier’s Integrated Review Genetics, second edition” (Adkison, L.) Elsevier, 2007, 2012; ISBN: 978-0-323-07448-3

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How to Order Course Materials: The books are available at the USF Health Bookstore. The books can be ordered from the USF Health Bookstore over the phone (813-974-4984). If you call the bookstore to order they will ship and the books should arrive in 3-4 days.

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) 974-4309, SVC 2043, Coordinator of Disabled Student Academic Services.

Holidays and Religious Observations: Students who anticipate that they will be unable to complete any aspect of this course due to the observation of a major religious observance must provide written notice to the instructor by the end of the second week of the course.

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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BASIC MEDICAL GENETICS: LEARNING OBJECTIVES

Section 1, Units 1-3 Unit 1: Basic Mechanisms, Chromosomes, Genome web pages, and Mechanisms of Inheritance

Required reading assignment: Adkison, Ch. 1-3; pp 1-50. Additional resources: genome.ucsc.edu; hapmap.org (To be completed before taking online quizzes)

Online self-assessment quizzes (To be completed before permission to take the Unit Exam)

After this unit, the student should be able to: Chapter 1:

Describe the structure of chromatin and the organization of chromosomes.

Explain gene organization and the central dogma of molecular biology.

Understand the basic relationship between chromatin and RNA transcription.

Explain genetic change and the processes that result in the variability of genetic information.

Describe the events that result in errors in DNA and the possible mechanisms for DNA repair.

Understand some introductory uses of the database for the human genome project, www.genome.ucsc.edu

Chapter 2: Describe chromosome structure and nomenclature and the identification of

chromosomes.

Explain the cell cycle and the process of mitosis.

Understand meiosis and cell division and the formation of gametes.

Explain the role of chromosomal abnormalities in human medical genetics and differentiate between numerical and structural abnormalities.

Understand several uses of the genome web pages related to basic medical issues

Chapter 3: Understand the various mechanisms of inheritance.

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Compare and contrast Mendelian inheritance mechanisms including autosomal dominant, autosomal recessive, X-linked recessive and X-linked dominant patterns.

Provide examples of nonmendelian inheritance, such as triplet repeats, genomic imprinting mosaicism and mitochondrial inheritance.

Discuss multifactorial inheritance with emphasis on phenotypic distribution, liability and risk, risk and severity, gender differences, environmental factors and the characteristics of multifactorial inheritance.

Unit 2: Genetics of Metabolic Disorders and Cancer Genetics

Required reading assignment: Adkison, Ch. 4-5; pp 51-92. Additional resource: COSMIC web pages (catalog of somatic mutations in cancer) (To be completed before taking online quizzes)

Online self-assessment quizzes (To be completed before permission to take the Unit Exam)

After this unit, the student should be able to: Chapter 4:

Describe the genetics of metabolic disorders from a historical perspective.

Explain the model of blocked metabolic reactions and how that applies to metabolic disorders caused by single gene defects.

Understand the role and importance of newborn screening programs.

Understand the molecular basis of aminoacidopathies including phenylalanine metabolism and hyper phenylalaninemia, tyrosine metabolism and homocystinuria and hyperhomocystinuria.

Discuss galactosemia as an example of a disorder in carbohydrate metabolism.

Discuss Maple Syrup Urine disease as an example of organic acidemias.

Understand the rationale for treatment of inborn errors in metabolism.

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.

Unit 3: Hematologic and Musculoskeletal Disorders and Neurologic Diseases

Required reading assignment: Adkison, Ch. 6-8; pp 93-158 (To be completed before taking online quizzes)

Online self-assessment quizzes (To be completed before permission to take the Unit Exam)

After this unit, the student should be able to: Chapter 6:

Understand how the structure of the red blood cell membrane relates to function.

Discuss examples of hemolytic anemias and how they relate to membrane and metabolic defects.

Examine defects in hemoglobin synthesis and function.

Consider the role of blood clotting defects using thromobophilia as an example.

Immune disorder, X-linked SCID, and gene therapy strategies

Chapter 7: Understand the structure and function of the extracellular matrix in relation to

connective tissues.

Consider how genetic disorders of connective tissue relate to its structure and function.

Consider achondroplasia as an example of a musculoskeletal disease due to a growth factor receptor defect .

Discuss muscular dystrophy as an example of a muscle cell disease.

Consider myoclonic epilepsy with ragged red fiber syndrome as an example of a mitochondrial myopathy.

Chapter 8: Provide and overview of neurologic disease.

Consider examples of single-gene disorders related to neurologic disease.

Describe complex diseases of the brain.

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Discuss studies of behavioral genetics.

Section 2, Units 4-5 Unit 4: Cardiopulmonary, Hepatic, Renal, Gastrointestinal and Gender Differentiation Disorders

Required reading assignment: Adkison, Ch. 9-11; pp 159-208.

(To be completed before taking on line quizzes)

Online self-assessment quizzes (To be completed before permission to take the Unit Exam)

After this unit, the student should be able to: Describe various cardiac and vascular-related disorders including Familial

Hypercholesterolemia and Long QT Syndrome. Understand selected examples of pulmonary-related disorders including Cystic Fibrosis

and 1-Antitrypsin Deficiency. Provide an overview of hepatic, renal and gastrointestinal systems. Discuss various reanl disorders including Renal Agenesis, Multicystic Renal Dysplasia

and Cystinuria. Describe a variety of hepatic disorders including hemochromatosis, Menkes Syndrome

and Wilson’s Disease. Discuss various disorders of gender differentiation and sexual development. Understand gonadal differentiation and disorders of sexual development including

Turner Syndrome, Klinefelter Syndrome, Chromosomal Mosaicism and Triple X female.

Compare and contrast disorders of sex steroidogenesis, such as true hermaphroditism, male pseudohermaphroditism and female pseudohermaphroditism with maternal virilization.

-- -

hydroxylase deficiency.

Unit 5: Population Genetics, Personalized Medicine Required reading assignment: Adkison, Ch. 12-13, pp.208-38

(To be completed before taking on line quizzes)

ONLINE SELF-INSTRUCTION QUIZZES (To be completed before permission to take the Unit Exam)

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After this unit, the student should be able to: Provide a review of population genetics and medicine from a historical perspective. DiscussHardy-Weinberg equilibrium together with the basic Algebraic formula and

applications of the Hardy-Weinberg Theorem. Discuss estimating the frequency of heterozygotes Explain the significance of the heterozygote and X-linked loci. Discuss consanguinity and recessive inheritance and the general aspects of

consanguinity. Describe assortative mating and breeding Provide examples of DNA technology and clinical diagnosis. Describe various tools of molecular medicine including molecular genetic techniques

and mutation detection. Explain genetic testing and screening including the fundamentals of genetic testing,

genetic screening, prenatal genetic testing and preimplantation genetic diagnostics. Discuss genetic counseling and recurrence risk estimation. Describe examples of genetic approaches to treatment including gene therapy, gene

replacement versus gene silencing and pharmacogenomics and personalized medicine.

Provide examples of new diagnostic approaches such as microarray analysis.

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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 student’s 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 student’s 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 person’s 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 one’s own, segments or the total of another person’s 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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Appendix B: Guidelines for Reports

Format:

Length 3 pages maximum, excluding bibliography/references

Margins 1” top, left, right, and bottom

Spacing Double-spaced for normal text, single-spaced for long quotes

Font Size 12 point

Font Styles Arial

Illustrations 1-3, used to enhance clarity

Title Should include topic, course ID/section, student name, and date

Format PDF Section I and II reports: Your report on the disorder should be subdivided into the following sections.

1. CLINICAL FEATURES (minimal intro) 2. BIOCHEMICAL FEATURES (high end detail) 3. INHERITANCE 4. MOLECULAR GENETICS (high end detail) 5. DIAGNOSIS (minimal unless specifically related to a molecular aspect of

the disease) 6. CLINICAL MANAGEMENT (minimal unless specifically related to a

molecular aspect of the disease)

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.

Appendix C: Guidelines for the Discussion Board

Content of Graded Discussion Items:

A discussion item may involve a question and its rationale. In other words, what is the basis of the question and why is it significant (How does it relate to the Unit under discussion?). References can be included which support the basis of the question.

A discussion item may involve an answer to a question posed. Please be complete and clear. References can be included to support the answer provided.

A discussion item may also include something of interest that expands upon material covered in a particular Unit. Please also provide the reasons that you found this item interesting. The source(s) for this item of interest should be referenced.

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Appendix D: Course Calendar 2015

January 5 Monday first day of classes, begin Unit 1, Chap 1 PowerPoint available

January 23 Friday complete Unit 1 Quizzes

January 23 Friday Unit 1 Exam available

January 25 Sunday Unit 1 Exam closes

January 25 Sunday Discussion for Unit 1 Ends

January 26 Monday begin Unit 2

February 6 Friday complete Unit 2 Quizzes

February 6 Friday Unit 2 Exam available

February 8 Sunday Unit 2 Exam closes

February 8 Sunday Discussion for Unit 2 Ends

February 9 Monday begin Unit 3

February 26 Thursday SECTION I REPORT DEADLINE

February 27 Friday complete Unit 3 Quizzes

February 27 Friday MIDTERM EXAM available

March 1 Sunday MIDTERM EXAM closes

March 1 Sunday Discussion for Unit 3 Ends

March 2 Monday begin Unit 4

March 2 – 7 SPRING BREAK

March 27 Friday complete Unit 4 Quizzes

March 27 Friday Unit 4 Exam available

March 29 Sunday Unit 4 Exam closes

March 29 Sunday Discussion for Unit 4 Ends

March 30 Monday begin Unit 5

April 23 Thursday SECTION II REPORT deadline

April 24 Friday complete Unit 5 Quizzes

April 24 Friday FINAL EXAM available

April 26 Sunday FINAL EXAM closes

April 26 Sunday Discussion for Unit 5 Ends

May 5 Tuesday deadline for e-grade submission

May 8 Friday Final Grades available

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