Biology 100/101
Lecture 20:
Biotechnology: Human Genome Project & Gene Therapy
(Print Version)

Announcements &
Assignments

Lecture Objectives

Web Resources

Human
Genome Project

Gene Testing

Gene Therapy

Lecture Syllabus

IB 100/101 Home Page

Text readings in Hoefnagels

Chapter 12, sections 12.6 (pg. 251) & 12.8, (pg. 254-255)

You have open access (no log-in or password needed) to instructional materials on the Text web site. Select "Resources" from the upper left of the page and select the text chapter you want.

Moodle

You may also ask questions and see answers to your classmates' questions in Moodle in the "Talk to Ed" forum.

Objectives

After studying this material you should be able to:

1. Describe the goals of the Human Genome Project and and the relationship of the project to the understanding of genetic diseases.

2. Describe how gene sequencing is accomplished using the cycle sequencing technique.

3. List and explain the three questions that must be answered in an attempt to prevent or treat a genetic disorder.

4. Distinguish between the goals of somatic gene therapy and those of germline gene therapy, and describe the  technical and ethical concerns associated with somatic and germline gene therapy.

5. Discuss the personal and ethical issues involved in the use of gene testing to identify a potential genetic disorder.

Web resources:

Your Genes, Your Choices, a book written as part of the Science + Literacy for Health project of the American Association for the Advancement of Science.

Chapter 2, Priya Should Find Out if She Has Inherited a Fatal Disease (or should she?),

Preimplantation Genetic Diagnosis from The HD Lighthouse

Five "designer babies" created for stem cells From New Scientist


The Need to Regulate "Designer Babies" from Scientific American

Should companies be able to own human genes? From CBS 60 Minutes

DNA Interactive A wealth of information about all sorts of issues dealing with DNA

Transcription movie select "Copying the Code" and then "putting it together" (one of the best I have seen)

Translation movie select "Reading the Code" and then "putting it together" (one of the best I have seen)

Recombinant DNA Plasmid movie Select "Techniques" from the menu across the bottom of the page and then "cutting and pasting" from the menu across the top of the next page. Finally, select "Recombining DNA" to see a 3-D movie.

DNA Applications with Sections on "Human Identification", "Recovering the Romanovs", "Genes and Medicine", and "Human Origins"

The Human Genome Project

Genomics 101: A Primer

Project Goals:

• identify all the approximately 20,000 to 30,000 genes in human DNA,

• determine the sequences of the 3 billion chemical base pairs that make up human DNA,

• store this information in databases,

• improve tools for data analysis,

• transfer related technologies to the private sector, and

• address the ethical, legal, and social issues (ELSI) that may arise from the project.

• Progress Report on the Human Genome Project

Insights Learned from the Sequence

How Gene Sequencing is Accomplished on a Gigantic Scale

• Sequence for Yourself from The Nova Program: Cracking the Code of Life
  This animation is rather detailed, but you have been exposed to all the basic concepts you need to understand how genes are sequenced.

• Celera Corporation

• $10m prize offered for rapid genome sequencing

• 1000 genomes project, an international collaboration

• Craig Venter Institute genome projects

New discoveries about what Genes Do

• There are ~4000 known genetic diseases caused by mutations that alter the expression of a gene or change the protein gene product that leads to a physiological problem.

• Transposons

• a DNA sequence that can “jump” within the genome

• make up 45% of human DNA

• can cause mutations by changing gene sequence.

• can cause a gap in DNA

• Now people think that there are between 20,000 and 25,000 genes in the human genome, however it is thought that humans can produce over 90,000 different proteins.

• Alternative splicingfrom Exonhit Therapeutics
  

• Alternative splicing from wikimedia.org
  

Gene Testing to Find Defective Genes

• Gene Testing from The Human Genome Project Information page

• What is gene testing?

• What are some of the pros and cons of gene testing?

• For what diseases are gene tests available?

• Should companies be able to own human genes? From CBS 60 Minutes

Treating Genetic Disorders, Including Gene Therapy

• The ability to develop a treatment for a genetic disease is based on three important questions:

1. Which gene is altered?

2. What protein does the gene normally make?

3. Can the altered gene or protein be fixed or replaced?

• Replacing Defective Proteins with Functional Proteins:

• Lactose Intolerance - NDDIC National Digestive Diseases Clearinghouse - NIH

• Replacing the Mutated Gene with a Functional Gene:

• Giving Sight by Therapy With Genes from the New York Times
  

• Gene Therapy from The Human Genome Project Information

• What is gene therapy?

• How does gene therapy work?

• What is the current status of gene therapy research?

• What factors have kept gene therapy from becoming an effective treatment for genetic disease?

• Miracle Gene Therapy Halted New Scientist

• What are some recent developments in gene therapy research?

• Proteomics

• New approaches to gene therapy from Genetic Science Learning Center at The University of Utah

• Cancer genes silenced in humans This article found by Julie Serwy

• Gene Therapy - An Overview from Access Excellence

• Hoefnagels, Chapter 12, "Gene Therapy Replaces Faulty Genes", pg 254

• Hoefnagels, Chapter 12, "Antisense RNA and Gene Knockouts Block Gene Expression, pg 254-255
  

• And now Metabonomics