Genomics Bioinformatics & Medicine

dasypygalstockingsΒιοτεχνολογία

2 Οκτ 2013 (πριν από 4 χρόνια και 10 μέρες)

100 εμφανίσεις

Doug Brutlag 2011

Genomics Bioinformatics & Medicine


http://biochem158.stanford.edu/

Biochem 158/258 and HumBio 158G

Doug Brutlag

Professor Emeritus

Biochemistry and Medicine (by courtesy)

brutlag@stanford.edu

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

Introduction to Genes, Diseases and Preventive Medicine

Sept 29

Diseases and Disease Databases

Oct 4

Sequencing the Human Genome

Oct 6

Finishing the Human Genome

Oct 11

Next Generation Sequencing Methods

Oct 13

Bioinformatics and Functional Genomics

Oct 18

Sequence Variations in the Human Genome

Oct 20

Structural Variations: Insertions, deletions, transpositions, & copy number
variations.

Oct 25

Discovering Variations Associated with Disease

Oct 27

Discovering Causal Mutations for Disease

Nov 1

Personal Genomics

Nov 3

Stem Cells

Nov 8

Stem Cell Therapies

Nov 10

Gene Expression and Cancer Diagnostics

Nov 15

Epigenetics

Nov 17

Drug Development

Nov 29

Pharmacogenomics

Dec 1

Ethical Issues and Genetic Discrimination

Doug Brutlag 2011

Course Requirements
http://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

20%

Oct. 11

Functional Analysis of

a Human Gene

20%

Oct.

25

Review of Genome
-
Wide Association Studies

20%

Nov. 8

Final Project

on Genomics and Medicine

40%

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

Understanding Metabolism

Understanding Disease

Inherited Diseases
-

OMIM

Infectious Diseases

Pathogenic Bacteria

Viruses

Novel Therapeutics

Drug Target Discovery

Rational Drug Design

Molecular Docking

Gene Therapy

Stem Cell Therapy

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 child’s 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
Huntington

s Chorea or Huntington

s 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?