Rare Genetic Disease

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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.


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. ...
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