Essay --

An Overview of Hutchinson-Gilford Progeria Syndrome The human genome is a remarkable system composed of over 3 billion DNA base pairs that encode for the characteristics that makes people distinctly human and unique themselves. 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 faults. Genetic mutations, though rare and typically harmless, can strike at any time and in various ways. Still, when they do cause harm the effects can be profound and impossible to ignore. Hutchinson-Gilford Progeria Syndrome (HGPS) is an instance where the mutation of just one nucleotide has devastating results. The Mayo Clinic defines progeria as a progressive genetic disorder that causes children to age rapidly, beginning in their first two years of life. This study defines the disease of progeria by outlining symptoms and identifying causes that lead to its diagnosis. In addition, treatment methods and extensive research tha t give those affected by the disease hope for a brighter future are highlighted. It is noteworthy to mention that there are numerous diseases associated with rapid ageing and progeria like symptoms. Cockayne, Lison, Werner’s, and Wiedemann-Rautenstrauch Syndromes are amongst these diseases. The shortened term progeria can be used to address any of these disorders but is most often specifically associated with HGPS. This distinct disease was named after Jonathan Hutchinson and Hastings Gilford who each independently described it in 1886 and 1897 respectively. Thankfully, this alarming syndrome is so rare that it only affects about 1 in every 4 million children born. Progeria is onset by a complicated series... ...ties are still exciting to speculate over. In closing, as overwhelming as the complications brought about from progeria may seem it is important to keep things in perspective. Research has gone a long way to improve the livelihood of those affected by this awful disability and in the process opened several new doors. While these fresh discoveries raise a plethora of new questions, it is essential to pursue the betterment of life for everyone. After all, HGPS is but one of many disorders set off by a slight and uncontrollable mutation. Fortunately, organizations such as the Progeria Research Foundation are working hard to raise awareness of the disease and unlock its true cure. In time all of this strife will bring a rich reward of enlightenment and new possibilities for the genes of every living being as the mesmerizing depths of the genome are abundantly explored.