Biochem 158/258 and Humbio 158G: Doug Brutlag Professor Emeritus Biochemistry and Medicine (By Courtesy)

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Genomics Bioinformatics & Medicine

http://biochem158.stanford.edu/
Biochem 158/258 and HumBio 158G

Doug Brutlag Professor Emeritus Biochemistry and Medicine (by courtesy) [email protected]
Doug Brutlag 2011

Greg Gibson & Spencer V. Muse

A Primer of Genome Science

$62
Doug Brutlag 2011

Greg Gibson

It Takes a Genome

Doug Brutlag 2011

Course Syllabus
http://biochem158.stanford.edu/
Sept 27 Sept 29 Oct 4 Oct 6 Oct 11 Oct 13 Oct 18 Oct 20 Oct 25 Oct 27 Nov 1 Nov 3 Nov 8 Nov 10 Nov 15 Nov 17 Nov 29 Introduction to Genes, Diseases and Preventive Medicine Diseases and Disease Databases Sequencing the Human Genome Finishing the Human Genome Next Generation Sequencing Methods Bioinformatics and Functional Genomics Sequence Variations in the Human Genome Structural Variations: Insertions, deletions, transpositions, & copy number variations. Discovering Variations Associated with Disease Discovering Causal Mutations for Disease Personal Genomics Stem Cells Stem Cell Therapies Gene Expression and Cancer Diagnostics Epigenetics Drug Development Pharmacogenomics

Dec 1

Ethical Issues and Genetic Discrimination

Doug Brutlag 2011

Course Requirementshttp://biochem158.stanford.edu/
Four research assignments
Disease case presentation Bioinformatics analysis of gene function Description of a genome-wide association study Final project (paper or presentation) on
The molecular basis of a disease A novel diagnosis or treatment of a disease A technological advance in genomics & disease An ethical, legal or social issue in genomics or medicine

Participation in Class Discussion

Doug Brutlag 2011

Research Projects and Grading Policy


http://biochem158.stanford.edu/
Assignment % of Grade Date Due

Inherited Disease Case Presentation


Functional Analysis of a Human Gene Review of Genome-Wide Association Studies Final Project on Genomics and Medicine

20%
20% 20% 40%

Oct. 11
Oct. 25 Nov. 8 Dec. 9

Second chance on homework!

Doug Brutlag 2011

Cognate Courses
Undergraduate Courses Biochem 118 Genomics and Medicine Sophomore Seminar Bio 109A and 109B (HumBio 158A and B) The Human Genome and Disease HumBio 157 The Biology of Stem Cells HumBio 159 Genes and Environment in Disease Causation Graduate Level Courses Genetics 210 Genomics and Personalized Medicine Genetics 211 Genomics CS 262 Computational Genomics CS 273A A Computational Tour of the Human Genome Biochem 218/BMI 231 Computational Molecular Biology BMI 214/CS 274 Representations and Algorithms for Computational Molecular Biology
Doug Brutlag 2011

BioMedical Seminars
Biomedical Seminars Calendar

Frontiers in Biology Seminar Series


Atul Butte, Stanford
Exploring Systems and Personalized Medicine Through Translational Bioinformatics Sep 28 4:00 PM Clark Center Auditorium

Nick Schork, Scripps


Functional Genomic Variants and Human Diversity Oct 26 4:00 PM Clark Center Auditorium

Marisa Bartolomei, U of Pennsylvania


Epigenetic regulation of genomic imprinting Nov 16 28 4:00 PM Clark Center Auditorium

Doug Brutlag 2011

Leveraging Genomic Information


Novel Diagnostics
Microchips & Microarrays - DNA Gene Expression - RNA Proteomics - Protein

Novel Therapeutics
Drug Target Discovery Rational Drug Design Molecular Docking Gene Therapy Stem Cell Therapy

Understanding Metabolism Understanding Disease


Inherited Diseases - OMIM Infectious Diseases Pathogenic Bacteria Viruses

Doug Brutlag 2011

Impact of Genomics on Medicine I. Diagnostics


Genomics: Identifying all known human genes Functional Genomics: Functional analysis of genes
In what tissues are they important? When in development are the genes used? How are they regulated?

Novel diagnostics
Linking genes to diseases and to traits Predisposition to diseases Expression of genes and disease

Personal Genomics
Understanding the link between genomics and environment Increased vigilance and taking action to prevent disease Improving health care
Doug Brutlag 2011

Impact of Genomics on Medicine II. Therapeutics


Novel Drug Development
Identifying novel drug targets Validating drug targets Predicting toxicity and adverse reactions Improving clinical trials and testing

Gene therapy
Replacing the gene rather than the gene product

Stem cells therapies


Replacing the entire cell type or tissue to cure a disease

Pharmacogenomics
Personalized medicine Adjusting drug, amounts and delivery to suit patients Maximize efficacy and minimize side effects Identify genetics of adverse reactions Identify patients who respond optimally Doug Brutlag 2011

Impact of Genomics on Medicine III. Ethical, Legal and Social Issues


Personal Privacy Insurability Employability Discrimination Genetic selection versus eugenics Cosmetic genetics Patentability of genes, proteins and other natural products

Doug Brutlag 2011

Impact of Genomics on Medicine IV. Strategic


Genomics can discover disease associated genes Genomics can discover disease causing genes. Genomics provides understanding of disease Genomics and bioinformatics provides basis for novel drug development Genomics provides basis for novel genetic and stem cell therapies Genomics provides the basis for preventive medicine.

Doug Brutlag 2011

Preventive Medicine

Doug Brutlag 2011

Founder of Preventive Medicine: Louis Pasteur

When thinking about diseases, I never think about how to cure them, but instead I think about how to prevent them.
Doug Brutlag 2011

Preventive Medicine
The goal is to prevent disease from occurring. First one must identify the cause of the disease. Treat the cause of the disease rather than the symptoms
Example 1: Peptic Ulcers Example 2: Pyrogens

Genomics identifies genetic causes of inherited disease. When Paul Wise (a Stanford pediatrician) heard that we may soon sequence every childs genome at birth, he stated:
all medicine may soon become pediatrics!

Overlooked accidents, infectious disease, auto immune disease and aging: environmental or acquired diseases Genetic penetrance and environment
Doug Brutlag 2011

Health Care Policy


Current health care treats disease rather than maintaining health (Illness care?) Future health care prevent disease Reduce need for expensive interventions Need policies that incentivize patients and doctors to prevent disease. Need social pressures to control behavior and increase vigilance.

Doug Brutlag 2011

Huntington Disease Film

Doug Brutlag 2011

The Inheritance
You are 18 years old. Your father abandoned you and your mother when you only 2 years old. Your father died this year and left you an inheritance. He died from an autosomal dominant disease known as Huntingtons Chorea or Huntingtons Disease. You have a 50% chance of inheriting this invariably fatal neurodegenerative disease. But there is a genetic test for this disease that can tell you not only if you have the disease, and if you do, when you will die from it. Would you take the genetic test or not? Why?

Doug Brutlag 2011

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