Bio128A Fall2016
HumanGenetics
TueandFri 11:00-12:20 Rosenstiel 118
Instructor–KateKramer
TA– Katie Schwarting
PLEASE NOTE: IdoNOT collectmessages at my(shared) Brandeis telephone extension. The best wayto reach meis bye-mail
OfficeHours
Kate Kramer: Gerstenzang138 (GC programspace)
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)
Thursday3:00 to 5:00 by appointment only
Pleaselet meknowyou arecomingin advance. Ifyouwishto see meonThursdays, pleasegivemea day’s advancenotice. Other times are possible byappointment.
Katie Schwarting: TBD
CourseObjectives:
Thisis a graduate level course designed to provide asolid foundation in human genetics with emphasis on the clinical aspectsofgeneticdisease. Prerequisites for undergraduates taking this class are Biol 14a (Genetics and genomics) and Biol 15b (Cells and organisms). Pleaseconsult theappropriate references (e.g.general genetics andmolecularbiologytexts) to refresh basic information needed asfoundation for the topics in this course. Pleaseseemesoon ifyou havespecific areas ofconcern about yourbackground.
We will review the content/organization of the human genome with emphasis on:
- mechanisms/patterns of heredity/transmission
- scope and implications of variation between individuals and populations
- techniques for detecting and mapping variation
- mechanisms controlling gene expression
- molecular/biochemical/cellular basis of genetic disease
- treatment of genetic disease
- ethical issues in human genetics
Examplesofgenetic diseasewillbeusedthroughout the coursein order to illustrate concepts and mechanisms, as wellas to keep ahumanistic perspective. Emphasis willbeplacedon the ability to translate conceptual information into problem-solvingskills so thatyou leavewith a practical understanding anda working knowledgeof humangenetics.
Requiredtext –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 GeneticsLBJorde, JCCarey, MJBamshad and RLWhite
Principles of Medical GeneticsTDGelehrter, FSCollins and DGinsburg
Human MolecularGenetics4th editionT Strachanand AP Read
Human Genetics:Problems and ApproachesFVogel and AG Motulsky(only3rdedition
currentlyin library)
Assignments andevaluation
AnnotatedLiteratureReview
You will write an annotated literature review on a provided topic due Tuesday November 29. Moredetails about this assignment willbe posted on LATTE andgiven in class.Pleaseseebelowonthe topic ofacademic
Homework willberegularlyassigned. There will be approximately10 homework assignments duringthe semester
Exams: Two in-class exams willbegivenduringthecourseof thesemester
A final exam will be given duringtheregular finalexam period. The final exam is not cumulative
Grades willbebased on the following:
Homeworkassignments: 25 %
Attendanceand participation: (see below for how participation is assessed) 10 %
Two mid-semester exams:30%
AnnotatedLiterature Review:20%
Final exam:15%
***Ifyouarea studentwithadocumented disabilityatBrandeisUniversityandifyouwishtorequestareasonableaccommodationforthisclass,pleaseseemeimmediately.Pleasekeepinmindthataccommodationsare notprovidedretroactively.**
Participation: I view participation as an indication from a student of their interest in the topics presented in class and their understanding of the material. I strongly encourage in-class participation in the form of questions about the material presented, comments/observations and opinions. I believe that in-class participation fosters increased interest in a topic and promotes discussion. However, I also recognize that not all students are comfortable with in-class participation. For this reason, I give equal value to participation via office visits, thoughtful emails and after-class questions.
Academic honesty
TheUniversity’s policyon academicintegrityis found in theRights and Responsibilities
Handbook (section 4) of the Brandeis communityis expected to maintain the highest standards ofacademichonesty. Students who do not follow theUniversity’s expectations faceserious penaltiesthat mayinclude failureon theassignment, failurein the course, suspension from the University,and other sanctions.Ifyou arein doubt regardingthe standards of academichonestyin this courseorhave anyquestions about myexpectations, please ask beforesubmitting an assignment.
Laptops
Laptops/tabletscan beauseful tool duringclassfortakingnotes for somestudents.However, students usinglaptops/tablets in class can be distracting to me and otherstudents, in part becausethe temptation to take “justasecond”to check emailor web updates is hard toresist. Ifyou feel that yourlearningwillbehampered bynot havingaccess toyour laptop/tablet fornote-takingor
other legitimate purposes, pleasespeak to me. Otherwise, keepyour laptop turned off and stowed awayduringclass. Pleaseshow respect to me andyourpeers bystaying focusedon what weare doing.
CellPhones
Pleaseturn offyour cellphoneor set it to vibratebeforeyoucome to class.If it’s an emergency
–arealemergency– then step outside foraminute.
Four-Credit Course (with three hours of class-time per week)
–Success in this 4 credit hour course is based on the expectation that students will spend a minimum of 9 hours of study time per week in preparation for class (readings, papers, discussion sections, preparation for exams, etc.).
Note: Syllabus will change during the semester. Students will be will notified by email/LATTE of any such changes
Readings for each class are posted on LATTE
Lecture 1 / F Aug 26 / Introduction, cell cycleLecture 2 / T Aug 30 / Gene structure and function
Lecture 3 / F Sept 2 / Mutation and variation in the human genome
Lecture 4 / T Sept 6 / Cytology I – abnormalities of chromosome number
Lecture 5 / F Sept 9 / Cytology II – abnormalities of chromosome structure
Lecture 6 / T Sept 13 / Techniques in genetics and genomics
Lecture 7 / F Sept 16 / Patterns of single gene inheritance
Lecture 8 / T Sept 20 / Complexities of single gene inheritance, mitochondrial inheritance
Lecture 9 / F Sept 23 / Bayesian analysis for risk assessment
Review/Exam / T Sept 27 / Review / Exam I 6:30-9:30
Lecture 10 / F Sept 30 / Population genetics
T Oct 4 / NO CLASS - Rosh Hashanah
Lecture 11 / F Oct 7 / Mapping by linkage
Lecture 12 / T Oct 11 / Multifactorial inheritance
Lecture 13 / F Oct 14 / Mapping by association - GWAS
Lecture 14 / T Oct 18 / Epigenetics
Lecture 15 / F Oct 21 / Developmental genetics
T Oct 25 / NO CLASS – Brandeis Monday
Lecture 16 / F Oct 28 / Molecular and biochemical basis for disease I (not on Exam II)
Review/Exam / T Nov 1 / Review / Exam II 6:30-9:30
Lecture 17 / F Nov 4 / Molecular and biochemical basis for disease II
Lecture 18 / T Nov 8 / Treatment I
Lecture 19 / F Nov 11 / Cancer genetics; molecular and biochemical basis
Lecture 20 / T Nov 15 / Guest lecture; Huntington disease research
Lecture 21 / F Nov 18 / Guest lecture; Cancer genetics, a clinical perspective
Lecture 22 / T Nov 22 / Treatment II
F Nov 25 / NO CLASS – Thanksgiving holiday
Lecture 23 / T Nov 29 / Pharmacogenomics/Precision medicine / Literature review due
Lecture 24 / F Dec 2 / Testing; genetics and genomics
Lecture 25 / T Dec 6 / Ethical Legal and Social Issues