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Gene therapy in genetic disorders

David, "the boy in the bubble," (September 21, 1971 February 22, 1984) was born with
X-linked Severe Combined Immunodeficiency or "X-SCID" disease. He spent his most of a life
in a big germ free plastic bubble because he could not fight off germs if he got sick. The bubble
kept the air he breathed free of germs. He couldn't fight off germs because his IL2RG gene had a
mistake in it. Scientists are now using gene therapy to cure children like David by adding a
mistake-free IL2RG gene. It is one of the famous genetic diseases that have been successfully
treated with gene therapy (Hoyt, 2008).
Gene therapy refers to the process of changing human genetic material to repair or to
compensate the effects of a mutation or abnormality. It is a novel approach to treat, cure, or
ultimately prevent disease by changing the expression of a persons genes. Gene therapy is in its
infancy, and current therapies are primarily experimental, with most human clinical trials still in
the research stages. Genes are composed of DNA that carries information needed to make
proteins the building blocks of our bodies. Variations in the DNA sequence or code of a gene
are called mutations, which often are harmless but sometimes can lead to serious disease. Gene
therapy treats disease by repairing dysfunctional genes or by providing copies of missing
genes. To reverse disease caused by genetic damage, researchers isolate normal DNA and
package it into a vehicle known as a vector, which acts as a molecular delivery truck. Vectors
composed of viral DNA sequences have been used successfully in human gene therapy trials.
Doctors infect a target cell usually from a tissue affected by the illness, such as liver or lung
cellswith the vector. The vector unloads its DNA cargo, which then begins producing the
proper proteins and restores the cell to normal. Problems can arise if the DNA is inserted into the

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wrong place in the genome. For example, in rare instances the DNA may be inserted into a
regulatory gene, improperly turning it on or off, leading to cancer.
Initial efforts in gene therapy focused on delivering a normal copy of a missing or defective
gene, but current programs are applying gene delivery technology across a broader spectrum of
conditions. Researchers are now utilizing gene therapy to:

Deliver genes that catalyze the destruction of cancer cells or cause cancer cells to revert
back to normal tissue

Deliver viral or bacterial genes as a form of vaccination

Deliver genes that promote the growth of new tissue or stimulate regeneration of
damaged tissue
About 4,000 diseases have been traced to gene disorders. Current and possible candidates for

gene therapy include cancer, AIDS, cystic fibrosis, Parkinsons and Alzheimers diseases,
amyotrophic lateral sclerosis (Lou Gehrig's disease), cardiovascular disease and arthritis.
In cases such as cystic fibrosis or hemophilia, disease results from a mutation in a single gene. In
other scenarios like hypertension or high cholesterol, certain genetic variations may interact with
environmental stimuli to cause disease.
Gene therapy is likely to be most successful with diseases caused by single gene defects.
The first successful gene therapy on humans was performed in 1990 by researchers at the
National Institutes of Health. The therapy treated a four-year-old child for adenosine deaminase
(ADA) deficiency, a rare genetic disease in which children are born with severe
immunodeficiency and are prone to repeated serious infections.
Since 1990, gene therapy had been tested in human clinical trials for treating such
diseases as severe combined immunodeficiency disease (SCID), cystic fibrosis, Canavan's

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disease and Gaucher's disease. In 2003, more than 600 gene therapy clinical trials were under
way in the United States but only a handful of these are in advanced stages. SCID, in which
children lack natural defenses against infection and can only survive in isolated environments,
remains the only disease cured by gene therapy (Gene therapy).
Gene therapy can be targeted to somatic (body) or germ (egg and sperm) cells. In somatic
gene therapy, the patients genome is changed, but the change is not passed along to the next
generation. In germline gene therapy, the patients egg or sperm cells are changed with the goal
of passing on changes to their offspring. Existing gene therapy treatments and experiments are all
somatic.
Germline gene therapy is not being actively investigated in larger animals and humans for
safety and ethical reasons. In September 2000, the American Association for the Advancement of
Science (AAAS) called for a moratorium on attempts to cure genetic diseases through human
germline gene therapy. While its report supported expanded basic research in the field of clinical
gene therapy, AAAS concluded that neither science nor society is ready for germline gene
therapy research.
Today, many clinical trials are underway, where researchers are carefully testing
treatments to ensure that any gene therapy brought into the clinic is both safe and effective.

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Works cited
Gene Therapy American Medical Association. AMA publication, n.d. Web. 12 October 2015.
Hoyt, Jason Can cancer be cured with gene therapy? The tech museum of innovation. n.p.
April 03, 2008, Web. 12 October 2015.