Topic In-Depth | Radio Programs | General Resources | Genetics of Disease | Support & Information | Gene Therapy | Xenotransplantation

The ultimate goal of genetic research is to help people - after all, almost every disease has a genetic component. To learn more about how your DNA influences your health, have a look below at resources on the Genetics of Disease.

For information about a particular genetically inherited disease, try the links in Support and Information.

You have probably heard about "gene therapy," a way to use DNA as medicine, but what does it really mean? And when will it come to your local hospital? Resources in our Gene Therapy section will point you to some answers. You can also learn more about Xenotransplantation - the use of live animal cells, tissues and organs in the treatment of disease.

Genome sequencing technologies are teaching us more and more about the relationship between the human genome and the microbes that make us sick - learn more about the genetics of these relationships and of the bugs themselves from resources listed in Genes & Infectious Disease.

If you're interested in the resources here in Genes & Medicine, you might also want to check out these categories: Genes & Cloning, Genes & Stem Cells, Regulation & Privacy, Ethics, Discrimination and Gene Testing.

Last updated: February 19, 2005

Topic In-Depth

• After Jesse Gelsinger's death in 1999, problems with gene therapy tests throughout the country came to light. Learn how in Sally Lehrman's article on the safety of clinical trials. Read article (October 2001).
  
  
• Get an update on the current status of the field of gene therapy, including the science, policy and ethics behind these new medical technologies. Read article (updated October 2001).

Radio Programs

• Genetic Medicine - Prescription for Conflict (first distributed in November 2001)
  
  
• Genetics of Infectious Disease - Planet of the Bugs: The Never-Ending Tale (first distributed in November 2001)
  
  
• Genetics of Aging & Longevity - Search for the Fountain of Youth (first distributed in November 2001)
  
  
• Prenatal Genetic Testing - Do You Really Want to Know Your Baby's Future? (first distributed in November 1998)
  
  
• Predictive Genetic Testing - Do You Really Want to Know Your Future? (first distributed in November 1998)
  
  
• Gene Therapy - Medicine for Your Genes (first distributed in November 1998)

General Resources

Online

• Nature Genome Gateway (2003) and the Nature Human Genome Issue (Nature, February 2001)
  
  The Nature Genome Gateway website includes a section on the human genome; check out the article on applications of sequencing in medicine and technology.
  
  
• Science Human Genome Issue, Science, February 2001
  
  Of particular interest is the article Genomics and Medicine: Dissecting Human Disease in the Postgenomic Era.
  
  
• Medline Plus
  
  Health information from the National Library of Medicine (NLM), this website includes a medical encyclopedia and dictionaries, as well as access to Medline, the NLM's database of references to over 11 million articles in 4300 biomedical journals and links to consumer health libraries.
  
  
• The Hastings Center Report
  
  To keep up on ethical issues in biomedicine, take a look at the annual index of this journal which covers major issues in bioethics.
  
  
• The Genomics Revolution. American Museum of Natural History (AMNH)
  
  The AMNH is a leader in the field of comparative genomics. Read about AMNH projects, take a tour of the museum's excellent exhibit on the new science of genomics and its implications, go "behind the scenes," or try out "Ology," an interactive site for kids.

Articles

• The Remastered Race. Wired, Volume 10, Number 5, May, 2002, pp. 68 - 74
  
  "Artificial chromosomes and in vitro screening are giving new life to the eugenics debate. The question is not whether we want to engineer embryos but how far it will go." Follow the links from this page to other relevant articles as well.
  
  
• Facing Your Genetic Destiny. Scientific American, February 2002
  
  Why are drug companies pouring resources into a new field called pharmacogenetics? Because they see genetically personalized treatment as the next big thing in medicine.
  
  
• Embryo Police. Wired, Volume 10, Number 2, February 2002
  
  A government panel in the United Kingdom known as the Human Fertilization and Embryology Authority tightly regulates the fertility industry. The HFEA is the world's first official overseer of reproductive technology.

Books

• Redesigning Humans: Our Inevitable Genetic Future by Gregory Stock. Houghton Mifflin, 2002
  
  Gregory Stock, director of the UCLA School of Medicine's Program on Medicine, Technology and Society puts a positive spin on the possibilities of genetic engineering on human health and happiness.
  
  
• Our Posthuman Future: Consequences of the Biotechnology Revolution by Francis Fukuyama. Farrar, Straus & Giroux, 2002
  
  Fukuyama, author of the influential book, The End of History, and member of the White House Council on Bioethics suggests that genetic manipulation will ultimately change what it means to be human.

Genetics of Disease

Online

• CDC Office of Genomics and Disease Prevention
  
  This elegant site highlights the impact of human genetic research on public health and disease prevention. Visit often for current news, upcoming conferences and CDC reports.
  
  
• Genetics Home Reference, National Library of Medicine
  
  A frequently updated site with information about genetic conditions and the genes or chromosomes responsible for those conditions.
  
  
• Genes and Disease. National Center for Biotechnology Information (NCBI)
  
  What the draft sequencing of the human genome tells us about how genetic factors contribute to human disease. A nifty map shows exactly where disease indicators are located on particular human chromosomes. Look them up by entering the chromosome number: 1-22, X, Y; alternatively, you can search by name of disease or condition.
  
  
• Genetic Disease Information PRONTO! National Human Genome Research Institute (NHGRI)
  
  NHGRI has put together a terrific collection of information and resources on genetic diseases.
  
  
• Genetic Drift. Published by Mountain States Regional Genetic Services Network
  
  An online publication with in-depth articles on genetics issues targeted to health care providers and other interested non-scientists.
  
  
• Blazing a Genetic Trail. Howard Hughes Medical Institute
  
  This striking report tells stories of families and scientists collaborating to find the causes of genetic diseases. It also has nice illustrations that explain basic genetics.
  
  
• 1,2,3 Genomics
  
  A one-stop location for freely available online resources on genomics and bioinformatics. It also includes a series of "Beginners Guides."
  
  
• Genetic Science Learning Center. Utah Museum of Natural History
  
  Developed as a partnership between scientists and teachers, this Web site outlines a series of classroom projects designed to teach different aspects of disease genetics.

Books

• The Genetic Basis of Common Disease by R.A. King, J.I. Rotter and A.G. Motulsky (eds.). Oxford University Press, Second Edition, 2002
  
  A textbook favored by many genetic counselors.
  
  
• Genes in Medicine: Molecular Biology and Human Genetic Disorders by Istvan Rasko, C. S. Downes (eds.). Chapman & Hall, 1994
  
  This textbook for medical students and medical geneticists bridges the gap between molecular biology and human genetics.
  
  
• The Encyclopedia of Genetic Disorders and Birth Defects by James Wynbrandt. Facts on File, 1999
  
  A basic reference for genetic disorders and birth defects.
  
  
• Past Imperfect: How Tracing Your Medical History Can Save Your Life by Carol Daus. Santa Monica Press, 1999
  
  
• Mapping Fate: A Memoir of Family, Risk, and Genetic Research by Alice Wexler. Random House, 1995
  
  Huntington's disease isn't just a book topic for Alice Wexler - it's a family matter. This memoir recounts her mother's battle with the disease, her sister, Nancy Wexler's efforts to find the genes involved, and her own reactions to knowing that she is at risk of developing HD herself.

Journal & Magazine Articles

Learn about the history of regulation of the DNA technology basic to genetic medicine from the following two articles. (If you are not a subscriber you can find them at your local library.)

• Potential biohazards of recombinant DNA molecules. Science 185:303, July 26, 1974
  
  This original call for a moratorium on recombinant DNA research, written by Paul Berg, is known as "The Asilomar Declaration."
  
  
• Reconsidering Asilomar. The Scientist, April 3, 2000, p. 14-15
  
  Does today's more complicated scientific landscape require a reassessment of the Asilomar declaration?

Support & Information

Online

• Genetic Alliance
  
  The Alliance is a national coalition of consumers, genetic support groups and health care professionals working to improve access to genetic services and understanding of genetic diseases.
  
  
• Breast Cancer Action
  
  An organization dedicated to breast cancer awareness, support and organizing for better research and access to treatment.
  
  
• ClinicalTrials.gov. National Institutes of Health
  
  If you're just curious about the clinical trials process or want to find one to participate in yourself, the NIH provides an excellent resource. Alternatively, you can check out the clinical trials industry site.
  
  
• Cystic Fibrosis Foundation
  
  The foundation's site has useful articles about cystic fibrosis, gene therapy and other topics, as well as a list of clinical trials that need volunteers.
  
  
• Hereditary Disease Foundation
  
  This foundation funds research on Huntington's disease (HD) and related disorders. This section of the site has useful articles on genetic testing for HD.
  
  
• National Down Syndrome Society
  
  This site features news and research about Down syndrome, also known as trisomy 21. Trisomies are genetic diseases caused when a child inherits three copies of a chromosome instead of the usual two (or the usual one, in the case of the X and Y chromosome pair in males).
  
  
• Online Genetic Syndrome Support Groups
  
  The site is run by a genetic counselor who regularly updates the lists of online support groups for genetic disorders and disabilities.
  
  
• The Sickle Cell Information Center
  
  This site provides news, research updates and worldwide resources for sickle cell patients and professional educators.
  
  
• Trisomy.org
  
  The official web site of the Support Organization for Trisomy 18 (Edwards' syndrome), Trisomy 13 (Patau's syndrome) and Related Disorders (S.O.F.T.). (This site does not have information on Down syndrome).
  
  
• American Self-Help Group Clearinghouse
  
  An online database of self-help groups. Search from a list including Chromosome Deficiency, [Genetic] Syndromes, and many more.

Gene Therapy

Gene therapy, touted as the revolutionary medicine of the future, is still in an early stage of development.  Since the DNA Files' first program on the topic, new treatments produced some signs of promising cures, and at least one death.  The DNA Files' second season program, Genetic Medicine: Prescription for Conflict, explored more recent developments in science, ethical issues, and regulatory policies.

If you are interested in this subject, also check out the resources for Cloning, Stem Cells, Ethics, and Infectious Disease.

Getting Started

• American Society of Gene Therapy
  
  The ASGT promotes research in gene therapy and publishes the monthly Molecular Therapy. The ASGT site includes links to academic institutions doing research in gene therapy, and to information on clinical trials, and government documents. See the ASGT position statements on "Financial Conflict of Interest in Clinical Research" and "Reporting Patient Adverse Events in Gene Therapy."
  
  
• The Death of Jesse Gelsinger
  
  First, read Sally Lehrman's engrossing account of the first death due to gene therapy. Then study the text of the February 2005 settlement of the resulting civil case.
  
  
• NIH Office of Biotechnology Activities (OBA): Recombinant DNA and Gene Transfer
  
  Most publicly funded human gene therapy experiments must be approved by the Recombinant DNA Advisory Committee (RAC). You can learn more about RAC History and gene therapy policies at this NIH site.

Ethics & Regulation

• Report on Germline Therapy. American Association for the Advancement of Science (AAAS)
  
  Should science and medicine pursue research on therapies that could make inheritable genetic modifications in humans? The AAAS weighs in on this controversy.
  
  
• American Journal of Bioethics
  
  This journal features analyses of ethical issues in gene therapy and related areas and includes tables of contents of other journals on bioethics.
  
  
• Gene Therapy Update. NPR's "Talk of the Nation." October 17, 2003
  
  Listen to a discussion of the present & future of Gene Therapy on NPR.

Science & Medicine

• Human Gene Therapy
  
  Browse the index of this peer-reviewed, scientific journal.
  
  
• Scientific American on Gene Therapy. October 14, 1996
  
  Search for "gene therapy" on the Scientific American site for more recent articles on gene therapy approaches towards a variety of diseases and conditions including Alzheimer's and diabetes.
  
  
• Gene Therapy: Potential Applications in Clinical Transplantation. Expert Reviews in Molecular Medicine, June 8, 1999
  
  
• Virus Vectors and Gene Therapy: Problems, Promises & Prospects. University of Leicester
  
  These online course notes explain how gene therapy should work.
  
  
• Gene Therapy. American Scientist, May–June, 1999
  
  An article on gene therapy strategies by industry scientist Eric B. Kmiec includes helpful illustrations of some gene therapy techniques. Also search for "gene therapy" to see more recent articles.

Clinical Trials

• National Association Of Rare Disorders (NORD)
  
  An organization for people with the kind of genetic diseases gene therapy hopes to treat. Their Human Gene Therapy links take you to to organizations, and databases for Rare Diseases, and for Orphan Drugs.
  
  
• Clinicaltrials.gov
  
  Find a general listing of clinical trials at this government site.

Magazine & Journal Articles

• "Gene Therapy." Scientific American, September 1995
  
  An enthusiastic overall look at gene therapy by W. French Anderson, one of the field's pioneering researchers and strongest supporters.
  
  
• Gene Therapy: Promises, Problems and Prospects. Nature September 18, 1997. Volume 389:239–242. (Paid-access article. Also available in print.)
  
  Inder Verma headed the National Institutes of Health group which was asked to investigate the prospects of human gene therapy. Here, Verma and co-author Nikunj Somia give a straightforward analysis of the pitfalls and potentials of gene therapy.
  
  
• "Gene Therapy." Nature 1998, Volume 392 (Supplement)
  
  Scientists such as W. French Anderson, Gary Nabel, and Fred Gage contribute their perspectives in a special supplement of the journal Nature devoted to gene therapy.
  
  
• "Special Report: Making Gene Therapy Work." Scientific American, June 1997
  
  A collection of articles by leaders in gene therapy explaining why gene therapy hasn't lived up to its early hype and what needs to be done to get it to work.

Books

• Altered Fates: Gene Therapy and the Retooling of Human Life by Jeff Lyon and Peter Gorner. W.W. Norton & Company, 1996
  
  In this big, thoroughly researched book, two science journalists tell the stories of the science, the personalities, and the politics behind early human gene therapy research.
  
  
• Correcting the Code by Larry Thompson. Simon and Schuster, New York, 1994
  
  The story of the excitement and controversies behind the first experimental human gene therapy treatments.
  
  
• Gene Therapy: Fact and Fiction in Biology's New Approaches to Disease by Theodore Friedmann (ed.). Cold Spring Harbor Laboratory, 1994
  
  This text is a critique and analysis of the promises and limitations of gene therapy; it is edited by one of the key researchers in the field.

Xenotransplantation

General Resources

• Xenotransplants: Using Animal Organs to Save Human Lives
  
  This highly recommended website presents an overview from the National Institutes of Health and can serve as an engaging high school classroom curriculum that is informative for graduates as well.
  
  
• Organ Farm. Frontline (PBS TV), March 27, 2001
  
  The website for this program gives the history of several xenotransplantation experiments, including Baby Fae, the pioneer baboon heart recipient.
  
  
• Taking Risks - Fight Against AIDS. PBS News Hour, February 9, 1996
  
  On the website of a PBS News Hour special series, you will find a transcript of a 1996 interview with Jeff Getty, a man living with AIDS who participated in an early xenotransplantation experiment.
  
  
• Xenotransplantation: Science, Ethics, and Public Policy by the Institute of Medicine. Washington D.C.: National Academy Press, 1996
  

  Abstract, table of contents and order form for this IOM report are available online

• Xeno: The Promise of Transplanting Animal Organs into Humans by David K. C. Cooper and Robert P. Lanza. New York: Oxford University Press, 2000
  
  A thorough treatment of the subject, and an interesting read. Includes bibliography.
  
  
• Chromosome 6 by Robin Cook. Putnam, 1997
  
  Xenotransplantation is the theme of this thriller by the best-selling author.

Regulations, Guidelines, and Reports

• Public Health Service Guideline on Infectious Disease Issues in Xenotransplantation. Centers for Disease Control and Prevention (CDC)
  
  
• Guideline on Infectious Disease Issues in Xenotransplantation. Federal Drug Administration (FDA)
  
  These guidelines include general principles for the prevention and control of infectious diseases that may be associated with xenotransplantation, as well as guidance on the development, design, and implementation of clinical protocols to sponsors of xenotransplantation clinical trials and local review bodies evaluating proposed xenotransplantation clinical protocols.
  
  
• Xenotransplantation Action Plan: FDA Approach To The Regulation Of Xenotransplantation
  
  A description of the Federal Drug Administration perspective on xenotransplantation and a variety of excellent related resources.

News

• News: Xenotransplantion. Centre for Law & Genetics
  
  An Australian site with up-to-date information on legal, ethical, and scientific issues stemming from xenotransplantation (animal-to-human). Search under "human tissue" or "xenotransplantation."