Topic > Progeria Syndrome Essay - 1759

An Overview of Hutchinson-Gilford Progeria Syndrome The human genome is an extraordinary system composed of over 3 billion base pairs of DNA that code for the characteristics that make people distinctly human and unique. Without the genome's nearly flawless ability to self-replicate, the human species would cease to exist. As incredible as this replication methodology is, it is not without its flaws. Genetic mutations, while rare and typically harmless, can strike at any time and in a variety of ways. However, when they cause harm, the effects can be profound and impossible to ignore. Hutchinson-Gilford progeria syndrome (HGPS) is a case in which a single nucleotide mutation has devastating results. The Mayo Clinic defines progeria as a progressive genetic disease that causes rapid aging in children, starting in the first two years of life. This study defines the disease of progeria by outlining the symptoms and identifying the causes that lead to its diagnosis. Additionally, treatment methods and in-depth research are highlighted that give those affected by the disease hope for a better future. Interestingly, there are numerous diseases associated with rapid aging and progeria-like symptoms. These diseases include Cockayne, Lison, Werner and Wiedemann-Rautenstrauch syndromes. The abbreviated term progeria can be used to address any of these disorders, but is most often associated specifically with HGPS. This distinct disease is named after Jonathan Hutchinson and Hastings Gilford who independently described it in 1886 and 1897, respectively. Thankfully, this alarming syndrome is so rare that it only affects about 1 in 4 million children. .In conclusion, as overwhelming as the complications caused by progeria may seem, it is important to keep things in perspective. The research has done much to improve the lives of those affected by this terrible disability and in the process has opened several new doors. While these new findings raise a myriad of new questions, it is essential to pursue improving lives for all. After all, HGPS is but one of many disorders triggered by a mild, uncontrollable mutation. Fortunately, organizations like the Progeria Research Foundation are working hard to raise awareness about the disease and unlock its true cure. In time, all this conflict will bring a rich reward of enlightenment and new possibilities for the genes of every living thing as the fascinating depths of the genome are abundantly explored...