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Rare Genetic Disease - Essay Example

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Rare Genetic Disease

The significance of this article lies in its assertion to establish a link between molecular biology and medical outcome. This claim is partially validated by the result of the research however, since the article is limited only on how the molecular make-up of an individual (represented by a laboratory model, in the research) is contaminated by progerin. It would have been more credible had the writer included researches done in clinical setting as well. At this point it is worth mentioning that such article is easily accessible by the general public. Hence, fundamentals such as 1) history, 2) special features of children that have been affected by progeria, 3) diagnosis 4) how progeria affects aging, and 5) drug/s or medication that might have been tested to cure or retard the effect of progeria should have been briefly discussed.. Furthermore, A better understanding of the causes of this syndrome (Progeria) could lead to better insights into the mechanisms of both development and aging.
Furthermore, the article emphasized that the cause of HGPS was identified in 2003,2 but failed to mention that progeria syndrome took its root as early as 1886 when Dr. Jonathan Hutchinson first described the disease.3 Certainly there are more studies available that might have served as a foundation to this article. One of those considered an authority in the study of HGPS is the Progeria Research Foundation (PRF).
Following are some of the results from studies conducted by PRF. About one in four to eight million newborns (both sexes) have been affected by Progeria. Children around the globe including Algeria, Argentina, Australia, Austria, Canada, China, Cuba, England, France, Germany, Israel, Italy, Mexico, the Netherlands, Poland, Puerto Rico, South Africa, South America, South Korea, Switzerland, Turkey, the US, Venezuela, Vietnam and Yugoslavia have been affected by the disease.
Signs of progeria-affected newborns include growth failure, loss of body fat and hair, aged-looking skin, stiffness of joints, hip dislocation, generalized atherosclerosis,
cardiovascular (heart) disease and stroke. The children have a remarkably similar appearance, despite differing ethnic backgrounds. Children with Progeria die of atherosclerosis (heart disease) at an average age of thirteen years (with a range of about 8 - 21 years). They suffer from the same strokes and heart attacks that affect millions of aging people throughout the world. But heart disease in progeria is fast, and they can get strokes as early as (four) years old.4
These and other studies aimed at discovering the cure and effective treatment for Progeria and its aging related disorders should have been cited in this article to clarify and support its contention.

1 Rare genetic disease (03 March2008). E-Lab. Accessed on 02 April 2008 from
2 Ibid.
3 Gordon, Leslie B (Summer 2007). Progeria: Growing Old Too Fast. Your World -- A Biotechnology Magazine, 16 (2), 3-5. Retrieved 02 April 2008 from

4 Progeriaresearch.Org, c 2006. Progeria 101 Fact.The Progeria Resear ...Show more


Rare Genetic Disease," posted on March 03, 2008 at E-Lab, is a report on Hutchinson-Gilford Progeria Syndrome ("Progeria", or "HGPS") - a rare, fatal genetic condition characterized by an appearance of accelerated aging in children. It highlights the idea that the adult stem cells maybe the key to understanding the cause of this disease…
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Rare Genetic Disease essay example
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