Bio 128A Fall 2015
Human Genetics
Tue and Fri 11:00-12:20 Science Center GL14
Instructor – Kate Kramer
TA – Stacey Liberman
PLEASE NOTE: I do NOT collect messages at my (shared) Brandeis telephone extension. The best way to reach me is by e-mail
Required text – Thompson & Tompson Genetics in Medicine 8th edition (2015) RL Nussbaum, RR McInnes, HF Willard
Other useful texts:
Genetics and Genomics in Medicine Tom Strachan, Judith Goodhship, Patrick Chinnery
Garland Science, 2014
Medical Genetics LB Jorde, JC Carey, MJ Bamshad and RL White
Principles of Medical Genetics TD Gelehrter, FS Collins and D Ginsburg
Human Molecular Genetics 4th edition T Strachan and AP Read
Human Genetics: Problems and Approaches F Vogel and AG Motulsky (only 3rd edition
currently in library)
Office Hours
Kate Kramer: Gerstenzang 138 (GC program space)
Tuesday, 12:30 to 3:00 (I am in my office most Tuesdays, but it is best to confirm with me if you would like to meet then)
Thursday 3:00 to 5:00 by appointment only
Please let me know you are coming in advance. If you wish to see me on Thursdays, please give me a day’s advance notice. Other times are possible by appointment.
TA: Stacey, 2nd year GC student: Gerstenzang 138 (GC program space)
Office hours: TBA
Course Objectives:
This course is designed to provide a solid foundation in human genetics with emphasis on the clinical aspects of genetic disease. Examples of genetic disease will be used throughout the course in order to illustrate concepts and mechanisms, as well as to keep a humanistic perspective. Emphasis will be placed on the ability to translate conceptual information into problem-solving skills so that you leave with a practical understanding and a working knowledge of human genetics.
This is a graduate level course. Please consult the appropriate references (e.g. general genetics and molecular biology texts) to refresh basic information needed as foundation for the topics in this course. Please see me soon if you have specific areas of concern about your background.
Note: Syllabus will change during the semester. Students will be will notified by email/LATTE of any such changes
Lecture #/date / TopicLecture 1/Friday August 28 / DNA and chromosomes; mitosis and meiosis
Lecture 2/Tuesday Sept 1 / What’s in the human genome (HG)?
Lecture 3/Friday Sept 4 / Variation in the HG
Lecture 4/Tuesday Sept 8 / Techniques
Lecture 5/Friday Sept 11 / Cytology I
Tuesday Sept 15 NO CLASS / Rosh Hashana
Lecture 6/Friday Sept 18 / Cytology II
Lecture 7/Tuesday Sept 22 / Patterns of single gene inheritance
Friday Sept 25 / Complexities of single gene inheritance/mitochondrial
Tues Sept 29 NO CLASS / Brandeis Monday
Lecture 8/Friday Oct 2 / Review session
Monday Oct 5 at 6:30 pm – location TBD / EXAM I EVENING
Lecture 9/Tuesday Oct 6 / Epigenetics
Lecture 10/Friday Oct 9 / Developmental genetics
Lecture 11/Tuesday Oct 13 / Population genetics
Lecture 12/Friday Oct 16 / Molecular basis of human disease - Hemoglobinopathies
Lecture 13/ Tuesday Oct 20 / Gene mapping and identification-linkage
Lecture 14/ Friday Oct 23 / Complex/multifactorial disease
Lecture 15/ Tuesday Oct 27 / Variant mapping-GWAS and more
Friday Oct 30 – review session / Review session
Monday Nov 2 at 6:30 pm – location TBD / EXAM II EVENING
Lecture 16/ Tuesday Nov 3 / Cancer genetics I
Lecture 17/ Friday Nov 6 / Cancer genetics II
Lecture 18/ Tuesday Nov 10 / Precision medicine/ Pharmacogenetics/genomics
Lecture 19/ Friday Nov 13 / Testing
Lecture 20/ Tuesday Nov 17 / Ethical, legal and social issues (ELSI)
Lecture 21/Friday Nov 20 / Guest speaker Vanessa Wheeler on her Huntington disease research
Lecture 22/Tuesday Nov 24 / Treatment of genetic disease I
Friday Nov 26 NO CLASS / Thanksgiving holiday
Lecture 23/Tuesday Dec 1 / Treatment of genetic disease II
Lecture 24/Friday Dec 4 / Biochemical basis of genetic disease I
Lecture 25/Tuesday Dec 4 / Biochemical basis of genetic disease II
Assignments and evaluation
Annotated Literature Review
A specific genetic condition will be assigned to research
thoroughly and write up in the form of an annotated literature review.
The final lit review, due Tuesday Decemberber 1st , will include a compilation of the literature about the genetic basis, population genetics, mutations, molecular biology, clinical aspects, treatment, and other features of the specified condition. More details about this assignment will be posted on LATTE and given in class. Please see below on the topic of academic honesty.
Homework
Exams
Final
Homework will be regularly assigned. There will be approximately 10 homework assignments during the semester
Two in-class exams will be given during the course of the semester
A final exam will be given during the regular final exam period. The final exam is not cumulative
Grades will be based on the following:
Homework assignments: 25 %
Attendance and participation: 10 %
Two mid-semester exams: 30 %
Annotated Literature Review: 20 %
Final exam: 15%
***If you are a student with a documented disability at Brandeis University and if you wish to request a reasonable accommodation for this class, please see me immediately. Please keep in mind that accommodations are not provided retroactively.**
Academic honesty
The University’s policy on academic integrity is found in the Rights and Responsibilities
Handbook (section 4) http://www.brandeis.edu/studentaffairs/srcs/rr/index.html. Every member of the Brandeis community is expected to maintain the highest standards of academic honesty. Students who do not follow the University’s expectations face serious penalties that may include failure on the assignment, failure in the course, suspension from the University, and other sanctions. If you are in doubt regarding the standards of academic honesty in this course or have any questions about my expectations, please ask before submitting an assignment.
Laptops
Laptops can be a useful tool during class for taking notes for some students. However, students
using laptop computers in class can be distracting to me and other students, in part because the temptation to take “just a second” to check email or web updates is hard to resist. If you feel that your learning will be hampered by not having access to your laptop for note-taking or other legitimate purposes, please speak to me. Otherwise, keep your laptop turned off and stowed
away during class. Please show respect to me and your peers by staying focused on what we are doing.
Cell Phones
Please turn off your cell phone or set it to vibrate before you come to class. If it’s an emergency
– a real emergency – then step outside for a minute.