Hutchinson Gilford Progeria Research Paper

Progeria, otherwise known as Hutchinson-Gilford Progeria syndrome , is a rare disorder that causes children to age eight times faster than a normal person. This disease affect only 350 kids today. It was discovered by Jonathan Hutchinson in England in 1886 and was first called Progeria by Hastings Gilford. It was then named Hutchinson-Gilford Progeria syndrome. The name Progeria is taken from a Greek word that means "prematurely old". It is an autosomal recessive disorder, meaning that an individual carrying a mutation in a single gene does not show any symptoms. When two individuals carrying the mutated LMNA gene for Progeria have a child, that child has a 1 in 4 chance of inheriting two recessive alleles and having the disorder.
The LMNA …show more content…
Leslie Gordon and Scott Berns. Their son, Sam Berns, was diagnosed with Hutchinson-Gilford Progeria syndrome at 22 months of age. When he was nine months old his parents began to notice that he had began to lose hair and that his teething was delayed. He was also growing very slowly. Even though both of his parents are medical doctors neither of the could come to a conclusion about what was happening to their son. While Sam was in his second year a family friend and fellow doctor had suggested that Sam had Progeria, thus sparking his parents journey for the understanding of progeria. Progeria has a bunch of clinical features that begin to show in the early stages of childhood. Signs and symptoms may vary due to age and severity, but they are very alike over all. Children appear normal at birth but begin to show signs during their first to third year. The signs include total or partial hair loss, loss of subcutaneous fat, bone changes, and other symptoms. As time goes on and the child begins to have hearing loss, dental crowding, and partial lack of secondary tooth …show more content…
Leslie Gordon and Scott Berns Continue with their research to work on finding a cure. They have not yet found a cure but their research has brought them to a trial drug to help slow the aging process. Farnesyltransferase inhibitor lonafarnib is a trial drug that was tested on 25 children with Progeria with a minimum age of 2. Farnesyl is an unsaturated oil based chain that is nonpolar and built like soap. Results from this clinical treatment trial for children with HGPS provide preliminary evidence that lonafarnib may improve vascular stiffness, bone structure, and audiological status. Lonafarnib is a farnesyltransferase inhibitor that is being investigated in a human clinical trial as a potential treatment for progeria. Lonafarnib is a synthetic tricyclic derivative of carboxamide with antineoplastic properties. Antineoplastic is acting to prevent, inhibit or halt the development or a neoplastic, or a tumor, that is used most of the time to treat cancer. It is used to slow down the growth of the tumors. The growth of the tumors relates over to the growth of the