Course Syllabus

Genetics of Human Disease

Harvard Extension School: BIOS E-145 (23812)

Spring 2015

Zofia Gajdos PhD, Lecturer on Microbiology and Immunobiology, Harvard Medical School

Location: NEW LOCATION! 1 Story St Room 303 (not Science Center A) Meeting Time: Monday 5:30pm - 7:30pm

This course provides an introduction to the genetic basis of human disease. Students begin by studying diseases that are inherited in a Mendelian fashion, such as sickle cell disease and cystic fibrosis. The idea of complex trait inheritance is then introduced through examples of diseases with more complex and mixed inheritance patterns. Students study complex genetic traits and diseases such as Type II diabetes, schizophrenia, obesity, and asthma and examine results from the recent genome-wide association studies that have expanded our understanding of human disease architecture. The course concludes with a discussion of the potential for personalized medicine as well as personal genomics. The course has a heavy emphasis on reading the scientific literature. Prerequisites: introductory biology and introductory genetics required; molecular biology strongly recommended.

Note: Online option available. Required sections for graduate-credit students to be arranged.

 

BIOS E-145, Genetics of Human Disease
Spring 2014
Mondays, 5:30-7:30pm
1 Story St, Room 303
Online Option Available

Course Faculty	Contact Information	Office Hours
Dr. Zofia Gajdos	zofia_gajdos@hms.harvard.edu	By appointment (Longwood, Cambridge, Skype, Google Hangout, etc.)
Teaching Assistants	Contact Information	Office Hours
Dr. Lillian Zwemer	limerriam@gmail.com	By appointment
Alissa D'Gama	alissa_d'gama@hms.harvard.edu	By appointment

 

Downloadable Syllabus

Course Description

This course provides an introduction to the genetic basis of human disease. Students begin by studying diseases that are inherited in a Mendelian fashion, such as sickle cell disease and cystic fibrosis. The idea of complex trait inheritance is then introduced through examples of diseases with more complex and mixed inheritance patterns. Students then study complex genetic traits and diseases such as Type II diabetes, schizophrenia, obesity, and asthma and examine results from the recent genome-wide association studies that have expanded our understanding of human disease architecture. The course concludes with a discussion of the potential for personalized medicine as well as personal genomics and addresses some of the ethical issues surrounding the increased prevalence of genomic data. This course has a strong emphasis on reading and analysis of primary literature and on basic data analysis methods.

 

Course Format

This course is offered with an online option, so you can take this course no matter where you’re physically located! There are three ways to watch the lectures: live in person, live streamed online, and recorded online. Because I try to use in-class activities and discussions fairly frequently, I encourage you to come to class or watch it live streamed if possible. However, even if you can’t attend or watch the live lecture, you can still do the activities – you’ll just be on your own as you do them. This course provides an introduction to the genetic basis of human disease.

 

Course Website and Discussion Forum

Canvas:

Lectures, assignments, readings, etc. will all be posted on the course Canvas site (https://canvas.harvard.edu/courses/1069). Please let Dr. Gajdos know if you have any problems accessing Canvas. We will be using Piazza as a build-in plug-in on the Canvas site for course discussions. You can sign up for our class Piazza site here: piazza.com/harvard/spring2015/biose14523812.

Canvas Chat:

Canvas has built-in chat functionality, so we will use that chat option for discussion and questions during class for students watching the video stream. The TAs will monitor the chat room to facilitate participation in class activities, even if you’re watching at a distance.

Prerequisites

Introductory biology and introductory genetics required; molecular biology strongly recommended. 

Course Goals (in brief) – by the end of the course, students will be able to:

1. Explain the different types of inheritance patterns of human disease.
2. Compare and contrast Mendelian and complex inheritance patterns.
3. Interpret and analyze data from the scientific literature on human genetic disease.
4. Understand the current state of the art in genomics and explain current controversies in the field.

 

Course Policies (in brief)

This course will be taught through a combination of lectures, classroom discussions, and in-class activities. Asynchronous online discussion sections through the Piazza forum will be held for those taking the course for graduate credit.

Lectures: In-person attendance at all lectures is encouraged for those students taking the class on campus and for students in the local area. For those not able to attend class in person, you are encouraged to live-stream the lecture and ask questions through the Canvas chat room described above.

Assignments:No make-up quizzes or exams will be given, and no late problem sets will be accepted. In extenuating circumstances, please see Dr. Gajdos.

Sections:Participation in the online discussion section is required for those students taking the course for graduate-level credit. Discussion will primarily revolve around discussion of the current scientific literature.

 

Recommended Textbooks

The following textbooks are suggested as references, but are not required. Reading assignments for the course will be drawn from primary literature, review articles, and readings from the popular press.

Human Genetics and Genomics, 4^th Edition – Bruce Korf and Mira Irons (ISBN-13: 978-0470654477)

Human Molecular Genetics, 4^th Edition – Tom Strachan and Andrew Read (ISBN-13: 978-0815341499)

 

Grading

Grades will be based on the following types of assignments:

Assignment	Undergraduate credit students	Graduate credit students
Pre-lecture reading quizzes	10%, 2 lowest scores dropped	10%, 2 lowest scores dropped
4 problem sets	40% (10% each)	35% (8.75% each)
“Future directions” presentation	-	5%
Midterm exam	25%	20%
Final exam	25%	20%
Section participation	-	10%

 

If you have any questions about the grading, please bring them to the attention of Dr. Gajdos.

Reading quizzes: Short quizzes completed online, due by 12pm the day of lecture. Not meant to be high-stress – these quizzes will help you keep on top of the reading and let me know what material is most confusing and/or most interesting to you.

Problem sets:These assessments will involve problem solving, interpretation of the scientific literature, and some short writing. They are designed to help you prepare for the exams. All problem sets can be turned in online. 

“Future directions” presentation: Graduate credit students will be required to give a 10-minute presentation on an aspect of where they think human genetics research is headed. Students will present via video, although there may also be opportunities for in-class presentations as well. More presentation details to follow later in the semester.

Midterm and final exams: The exams will be in the online, open-book format. You will have 2 hours to complete each exam within a 24-hour exam period.

Section participation: Those taking the course for graduate credit are required to participate in online discussions of the scientific literature. Those not taking the course for graduate credit are also welcome to participate in our discussions! 

Course Goals & Learning Objectives:

Upon completion of this course, students will know/understand:	Upon successful completion of this course, students will be able to:	Student will be assessed on these learning outcomes by:
Understand the different types of inheritance patterns of human disease.	Compare and contrast different types of inheritance patterns of human disease.	Quizzes and activities, problem sets, and exams.
Understand Mendelian inheritance patterns.	Identify a Mendelian inheritance pattern.	Quizzes and activities, problem sets, and exams.
Understand multigenic inheritance patterns.	Identify a multigenic inheritance pattern.	Quizzes and activities, problem sets, and exams.
Understand how to interpret data from a genome-wide association (GWA) study.	Analyze data from genome-wide association studies.	Quizzes and activities, problem sets, and exams.
Understand how to interpret data from next-gen sequencing studies.	Analyze data from next-gen sequencing studies.	Quizzes and activities, problem sets, and exams.
Understand the current research into epigenetic and transgenerational inheritance.	Explain the basics of epigenetic and transgenerational inheritance.	Quizzes and activities, problem sets, and exams.
Understand the potential implications of personalized and genomic medicine.	Explain the potential benefits and risks/challenges of genomic medicine.	Quizzes and activities, problem sets, and exams.
Understand some of the ethical issues facing genomic researchers.	Explain some of the ethical challenges raised by the prevalence of genomic data.	Quizzes and activities, problem sets, and exams.
Understand how to interpret data from primary literature in genetics and genomics.	Interpret and analyze data from primary literature in genetics and genomics.	Quizzes and activities, problem sets, and exams (undergraduate credit). Quizzes and activities, problem sets, exams, and section (graduate credit).

 

Course Policies:

Classroom Courtesy:

• As a courtesy to all the members of our classroom and online community, please turn off your cell phones and keep your side conversations to a minimum.
• The use of laptops for note-taking and for analytical work during class is allowed and encouraged, but please try to keep laptop time on-task to avoid distracting yourself and your classmates.

Preparation for Class:

• Because there will be in-class activities, you are encouraged to attend class in person or view the live-stream if possible. (If you can’t attend or view live, you are still encouraged to pause the video and complete the activities on your own – you just won’t have the benefit of discussion with your classmates.)
• If you are attending class in person or viewing the live stream, please arrive (or sign on!) on time and ready to participate and learn. Arrive having read any assigned reading and having completed the pre-lecture reading quiz, and have any assignment that is due ready to turn in if you have not already turned it in online. If you are watching the videos online, you should have read the assigned reading ahead of time and completed the pre-lecture reading quiz.
• You should have with you in class or as you watch the lecture: something with which to take notes (either a computer, tablet, or pen and paper) and scrap paper for practice problems and activities. For some in-class exercises, a laptop or tablet will be required – but if you do not own one, you will be able to work with someone who does.
• I will strive to post the lecture slides by noon on the day of lecture – it may be helpful to have an electronic or paper copy of the slides handy as you attend or view the lecture to facilitate note-taking.

Readings:

• Non-textbook readings will be posted ahead of time on the course website.
• Readings on the syllabus should be completed ahead of time in order to fully understand the lecture material. There will be a short weekly reading quiz (5-10 minutes) to help you keep ahead of the reading and to help me tailor my lecture appropriately. Discussions and activities will involve the assigned readings!

Problem Sets, Quizzes, and Exams:

• You will have at least a week to complete problem sets/response papers. Students taking the course for graduate credit will be required to give a presentation at the end of the course as part of their overall problem set grade.
• There will be 11 pre-lecture reading quizzes. They are designed to help you keep on top of the required readings. Your lowest 2 quiz scores will be dropped.
• There will be two exams, a midterm and a final. Exam material will be drawn from required readings, lecture material, and in-class activities. Exams will be open-book and offered online. No makeup exams will be given. In case of emergency, please contact Dr. Gajdos.

Contacting Faculty:
The best way to contact Dr. Gajdos is by email or by posting to the class Piazza forum. Unless it is a holiday or a weekend, emails will generally be answered within 36 hours. Please plan accordingly.

Class Participation:
Learning requires students to actively contribute both inside the classroom and after class. Class participation is an integral part of the learning process. Answering questions posed during lecture, voting in class polls, and energetically being a member of groups in activities and on the discussion boards will reinforce your learning and help make the class enjoyable for all participants.

Academic Integrity:
Students are expected to abide by the Academic Integrity policies described in on the Extension School website (http://www.extension.harvard.edu/exams-grades-policies/student-responsibilities). All work handed in should be your own.

Disabilities:
If you are a student with a documented disability on record at the Extension School and wish to have a reasonable accommodation made for you in this class, please see Dr. Gajdos. More information on accommodations can be found on the Extension School website (http://www.extension.harvard.edu/resources/disability-services).

Help & Resources:
If you find yourself struggling, act quickly! Please contact Dr. Gajdos to set up an appointment – office hours can be held in person in Longwood or Cambridge or online via Google Hangouts or Skype. All course policy issues should be addressed directly to Dr. Gajdos. 

Course Schedule:

 

Important Dates:

Event	Date
Registration ends	1/25
Late registration ends	2/3
Course drop deadline for full tuition refund	2/3
Course drop deadline for half tuition refund	2/9
Course withdrawal deadline	4/27