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Syllabus - Environmental Health Sciences, UC Berkeley, School of ...

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PH256 Molecular & Genetic Epidemiology and Human <strong>Health</strong> in the 21 st<br />

Century<br />

Instructors: Lisa F. Barcellos, PhD and Nina T. Holland, PhD<br />

Offered: Spring Semester<br />

Units: 4.0 (Letter Grade)<br />

Course Format: Lecture, Wet & Computer Labs, Discussion<br />

Course Website: http://genepi1.berkeley.edu/<br />

CCN#: 76289<br />

________________________________________________________________<br />

Goals <strong>of</strong> the Course:<br />

<br />

<br />

<br />

<br />

<br />

To introduce basic concepts in human and population genetics<br />

To introduce fundamentals <strong>of</strong> study design and methods <strong>of</strong> data analysis in<br />

molecular and genetic epidemiology<br />

To introduce computer and laboratory tools for molecular and genetic<br />

epidemiology studies<br />

To introduce ‘next generation’ methods for studies <strong>of</strong> human health and<br />

disease<br />

To understand the relevance <strong>of</strong> molecular and genetic epidemiology to<br />

public health<br />

________________________________________________________________<br />

Course Description:<br />

Molecular and genetic epidemiology are exciting and rapidly evolving fields <strong>of</strong><br />

research that utilize highly specialized laboratory and analytical methodologies.<br />

This course will cover basic principles <strong>of</strong> human/population genetics and molecular<br />

biology relevant to understanding approaches in molecular and genetic<br />

epidemiology. The latest designs and methods for genome-wide association<br />

studies and other approaches to identify genetic variants and environmental risk<br />

factors important to disease and health will be presented. The application <strong>of</strong><br />

biomarkers to define exposures and outcomes in epidemiologic research will be<br />

explored. The course will cover recent developments in genomics, epigenomics<br />

and other ‘omics’, including ‘next-generation’ sequencing technology. The current<br />

role <strong>of</strong> genomics in personalized medicine and health will be presented. Computer<br />

and wet laboratory work will provide hands-on experience with modern tools <strong>of</strong><br />

molecular and genetic epidemiology, including biobanking and data analysis.<br />

Ethical, legal and social issues will be discussed. Examples from public health will<br />

be emphasized, including the application <strong>of</strong> these important fields to studies <strong>of</strong><br />

common chronic diseases. Students will also participate in critical review <strong>of</strong> journal<br />

articles relevant to molecular and genetic epidemiology. There will be written<br />

midterm and final exams.<br />

Prerequisites: Introductory level biology/genetics course, or consent <strong>of</strong> instructor.<br />

Introductory biostatistics course strongly recommended.<br />

1


SPRING 2012 <strong>Syllabus</strong><br />

Date Subject Instructor (s) Location<br />

1/19 -Overview <strong>of</strong> Course<br />

-People and Ideas in Human Genetics and Molecular Biology<br />

-Introduction to Genetic Epidemiology and Study Designs<br />

1/26 -Concepts in Population Genetics<br />

-Computer Lab: Pypop and Haploview<br />

2/2 -Linkage Analysis: The Past, Present and Future<br />

-Journal Club #1<br />

2/9 -Homework #1 due (Population Genetics)<br />

-Disease Association Studies: I<br />

-Computer Lab: AFBAC and Haploview<br />

L. Barcellos 2030 Valley<br />

LSB<br />

L. Barcellos 340A<br />

Haviland<br />

L. Barcellos 2030 Valley<br />

LSB<br />

L. Barcellos 340A<br />

Haviland<br />

2/16 -Disease Association Studies: II<br />

-Computer Lab: Haploview and PLINK<br />

2/23 -Homework #2 due (Linkage and Association)<br />

-Pharmacogenomics<br />

-Epigenomics and Human <strong>Health</strong> & Disease<br />

3/1 -Disease Association Studies: III<br />

-Computer Lab: Program Review<br />

-Journal Club #2<br />

3/8 -Homework #3 due (Imputation and GxE)<br />

-Approaches to Analysis <strong>of</strong> DNA Methylation Data<br />

-Methods for Multiple Testing Issues in Genetic Studies<br />

*HANDOUT MIDTERM EXAM*<br />

L. Barcellos<br />

F. Briggs<br />

D. Johnson<br />

N. Holland<br />

L. Barcellos<br />

F. Briggs<br />

E. Elboudwarej<br />

B. Goldstein<br />

L. Barcellos<br />

340A<br />

Haviland<br />

2030 Valley<br />

LSB<br />

340A<br />

Haviland<br />

2030 Valley<br />

LSB<br />

3/15 -Molecular Epidemiology: Biomarkers as a Tool<br />

-Research Involving Human Subjects and Ethical Issues<br />

-Wet Lab: Sample Collection for DNA extraction<br />

N. Holland 2030 Valley<br />

LSB<br />

*MIDTERM DUE*<br />

3/22 -Homework #4 due (Human Subjects Training)<br />

-Methods for Detecting Admixture and Population Stratification<br />

-Computer Lab: STR<strong>UC</strong>TURE/PLINK<br />

*MIDTERM RESULTS*<br />

3/29 SPRING BREAK<br />

F. Briggs<br />

L. Barcellos<br />

340A<br />

Haviland<br />

4/5 -Specimen Banks and Biorepositories<br />

-Wet Lab: DNA quantification, Cell cultures and Biospecimen<br />

Banking<br />

N. Holland 112 RFS<br />

2


4/12 -Biomonitoring: From Lead to Exposome<br />

-Omics: Transcriptomics and Proteomics<br />

-Journal Club #3<br />

4/19 -Homework #5 due (Biomarkers and Biomonitoring)<br />

-Novel Methods <strong>of</strong> Molecular Cytogenetics<br />

-Wet Lab: Methods <strong>of</strong> Cytogenetic Analyses<br />

4/26 -Next Generation Sequencing and Genomics in Personalized<br />

Medicine<br />

-Computer Lab: Introduction to Bioinformatics Tools<br />

N. Holland 2030 Valley<br />

LSB<br />

N. Holland 210<br />

Hildebrand<br />

L. Barcellos 340A<br />

Haviland<br />

*Hand out take-home portion <strong>of</strong> the Final Exam: Lab<br />

exercises using STR<strong>UC</strong>TURE, PLINK and Bioinformatics<br />

Tools. This will be due on 5/10 – day <strong>of</strong> in class FINAL<br />

EXAM.<br />

5/3 -RRR Week (OPEN COMPUTER LAB FOR QUESTIONS)<br />

5/10 FINAL EXAM (IN CLASS) 12.30-3.30 PM L. Barcellos<br />

N. Holland<br />

Location TBD<br />

Grading:<br />

Attendance & participation (Journal Club, Office Hours): 10%<br />

Midterm (written take-home) examination: 30%<br />

Final (comprehensive, in-class) examination: 40%<br />

Homework (five assignments) 20%<br />

Instructor contact information:<br />

Pr<strong>of</strong>essor: Nina T. Holland, 510.455.0561, 510.642.8781, 733 University Hall<br />

e-mail: ninah@berkeley.edu<br />

Office Hours: by appointment<br />

Pr<strong>of</strong>essor: Lisa F. Barcellos, 510.642.7814, 231 Hildebrand Hall<br />

e-mail: lbarcellos@genepi.berkeley.edu (preferred communication)<br />

Office Hours: by appointment<br />

Graduate Student Instructor: Vitaly Volberg (PhD student)<br />

e-mail: vvolberg@berkeley.edu<br />

Office Hours: Tuesdays 2-3:30 p.m. and Thursdays 12:30-2 p.m.<br />

Office Location: 34D University Hall (Ground Floor)<br />

Phone: 510.665.2200 (Lab)<br />

Office Hours: Students are required to attend one <strong>of</strong>fice hour (10 minute<br />

appointment) by/before the 4 th week <strong>of</strong> semester with Dr. Holland and Dr.<br />

Barcellos. Dates and times for sign-up will be given in first class meeting.<br />

3


Homework assignments: These will be posted on Course Website and<br />

distributed by email one week before due date, and are due before class begins<br />

on dates listed in syllabus. Assignments should be emailed directly to Drs. Holland<br />

and Barcellos at addresses listed above. Last name must be included in file name<br />

as shown: (NAME_PH256_Homework1_2012.doc or .pdf). In addition, First and<br />

Last name should be included in header <strong>of</strong> document. There will be a place for you<br />

to insert this information in each homework assignment.<br />

Location: This course will meet on Thursdays 2-5 p.m. in 2030 Valley LSB and/or<br />

340A Haviland Hall (Computer labs and lectures). One wet lab will be held in 210<br />

Hildebrand Hall, and another one at 112 Richmond Field Station (RFS).<br />

Recommended Texts for PH256:<br />

Strongly Recommended:<br />

Human Molecular Genetics, 4th Edition, T. Strachan & A.P. Read, eds. (2010)<br />

Wiley-Liss. ISBN-10: 0815341490<br />

Human Genetics, 7 th Edition, R. Lewis (2007) McGraw-Hill. ISBN 0073101435<br />

Molecular Epidemiology <strong>of</strong> Chronic Diseases, C.Wild, P.Vineis, S.Garte eds.<br />

(2008) Wiley. ISBN 978047-027431<br />

Human Biomonitoring for <strong>Environmental</strong> Chemicals, NTC (2006) available free on<br />

line at: http://www.nap.edu/catalog.phprecord_id=11700<br />

Additional Suggestions:<br />

An Introduction to Genetic Epidemiology (<strong>Health</strong> & Society Series)<br />

(2011) eds. L. Palmer, P. Burton, and G.D Smith. Policy Press; ISBN-<br />

10:1861348983<br />

Human Genome Epidemiology: Building the Evidence for Using Genetic<br />

Information to Improve <strong>Health</strong> and Prevent Disease (2009) eds. M. Khoury, S.R.<br />

Bedrosian, M. Gwinn, J.P.T. Higgins, and J.P.A. Ioannidis. Oxford University<br />

Press; 2 edition. ISBN-10:0195398440<br />

Genomic and Personalized Medicine, Volumes 1-2 (2008); Edited by H.F. Willard<br />

and G.S. Ginsburg; ISBN-10:0123694205<br />

A Statistical Approach to Genetic Epidemiology: Concepts and Applications,<br />

Ziegler and Konig, eds. (2006) Wiley-VCH; ISBN-13:978-3-527-31252-8<br />

4


Principles <strong>of</strong> Population Genetics, 4th Edition, D. Hartl & A. Clark (2006) Sinauer<br />

Associates, Inc. ISBN-10:0878933085<br />

Approaches to Gene Mapping in Complex Human Disease, 2 nd Edition, J.L.<br />

Haines & M. A. Pericak-Vance, eds.(2006) Wiley-Liss. ISBN 0471089524<br />

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