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

You may also ask questions and see answers to your classmates' questions in Web Crossing in the "Talk to Jim, Ross, and Ed" discussion.

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 in general terms how gene sequencing is accomplished.
3. List and explain in general terms the three questions that must be answered in an attempt to prevent or treat a genetic disorder.
4. Explain in general terms the goals of and concerns about somatic gene therapy and explain the general aversion to germline gene therapy.
5. Discuss the 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

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 (X30,000X) < 25,000 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

Early Insights from the Human DNA 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

Understanding 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.
• What do these genes normally do and what happens when things go wrong?
• Now people think that there are between 20,000 and 25,000 genes in thehuman genome, however it is thought that humans can produce over 90,000 different proteins.
• Alternative Gene Splicing - Scientific American
• Alternative splicing from Exonhit Theraputics - (See the animation)

Medicine and the New Genetics

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?

Treating Genetic Disorders, Including Gene Therapy

• The ability to develop a treatment for a genetic a 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:
• 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 and New approaches to gene therapy from Genetic Science Learning Center at The University of Utah
• Gene Therapy - An Overview from Access Excellence
• See also Lewis, Chapter 13, Biotechnology 13.3, Transgenes, Gene Therapy, and Microarrays, pg 262-3
• Chapter 13, Biotechnology 13.1, Antisense Technology Silences Gene Expression , pg 249

And now Metabonomics