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Gene therapy: A solution for genetic disorders

In September 1990, four years old Ashanthi DeSilva made medical history when she
received the first authorized human gene therapy treatment. Ashanthi was born with a defective
gene that normally produces an essential enzyme adenosine deaminase (ADA). If left untreated
the inability to produce this enzyme results in the fatal malfunction of the immune system that
made her vulnerable to even the mildest infections. Nearly 23 years later, Ashanthi attended
Immune Deficiency Foundation (IDF) 2013 National Conference.
In livescience.com, there was an article written by senior writer, Rachael Rettner, 6 children
with rare genetic disorders were helped by gene therapy. This article contains new Italian
research which suggests treating two hereditary disorders with gene therapy. One disorder, called
metachromatic leukodystrophy, causes a buildup of fatty acids in the brain, which leads to
cognitive and movement problems and, ultimately, death at an early age. Another one is WiskottAldrich

syndrome,

an

immune

system

disorder caused

by

mutations

in

gene

called WAS. People with this condition are at increased risk for developing infections, as well as
eczema. The children treated with the gene therapy saw their symptoms decrease or disappear
within 20 to 30 months of undergoing treatment, the researchers said.
These are the examples of genetic disorders that are treated by gene therapy which cannot be
treated through drugs and surgery. A genetic or inherited medical disorder is a condition that is

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caused by an abnormal expression of one or more genes. This occurs when the chemicals that
make up an individual's genes are incorrectly deleted, added, or substituted. If the mutation
causes the cells in the body to stop functioning properly, the person may develop a disease or
disorder. About 4,000 diseases have been traced to gene disorders
Gene therapy is an experimental procedure that may help treat or prevent inherited disorders
and some types of cancer. Gene therapy refers to the process of changing human genetic material
to repair or compensate for the effects of a mutation or abnormality. 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.
It is a novel approach to treat, cure, or ultimately prevent disease by changing the expression
of a persons genes. It is also clear that gene therapy holds both great promise and potential for
misuse. By addressing the concerns of gene therapy being used for enhancement of desirable
qualities such as intelligence, cosmetic appearance, or physical performance, the potential for
misuse of gene therapy can be reduced. As in the given examples the promise of gene therapy is
that individuals with previously untreatable genetic diseases will be effectively and safely treated
with gene therapy. Any delay in the development of this technology would only result in the
needless suffering and possibly needless deaths. Early research is promising and additional
research is needed to determine that gene therapy is a safe and effective treatment for genetic
disorders.