Progeria

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Hutchinson-Gilford Progeria Syndrome

Abstract
Hutchinson - Gilford syndrome, or Progeria, is an extremely rare genetic disorder when children age at a tremendous pace. Although children born with Porgeria tend to look healthy, they begin to display many characteristics of fast-tracked aging around 18-24 months. These children develop growth failure, a loss of body fat and hair, aged-looking skins, stiffness of joints, cardiovascular disease and strokes. Children with Progeria die of atherosclerosis (heart disease) at an average age of thirteen years (with a range of about 8 – 21 years). Progeria is extremely uncommon; only about one out of eight million people have it. Ninety percent of children with Progeria have a mutation on the gene that encodes the protein lamin A, and usually occurs (without cause). Progeria fell to my interest because these patients touch the heart of many human beings with their struggles of aging and death at a very young age. This paper will give you all the basic details of the genetic disorder, displaying and answering what Progeria is, the causes, journey and treatments. Many of the resources are from books, journals, and websites. Old at age 3 by Zachary Moore, and W. Ted Brown’s and Frank Rothman’s (title of book chapter is from) chapter entitled the “Hutchinson-Gilford Progeria Syndrome” are some helping book sources. Also I found journals on PubMed, and information from internet sources, such as the Progeria research foundation.

Outline
I.Intro
A.Intro thoughts
B.Definition
C.Thesis
II.Progeria
A.Definition
B.Origin
C.Inheritance
D.Life expectancy
E.Founders
III.Epidemiology
A.Progerian population
B.Location where found
C.Ethnicity
D.Appearance
IV.Symptoms
A.Physical Appearance
1.Growth failure
2. Loss of body fat and hair
3. Aged looking skin
4. Enlarged skull
B.Health Problems
1.Stiffness of joints,
2.Hip dislocation
3.Generalized atherosclerosis
4.Cardiovascular disease
5.Stroke
V.Causes
A.Genetic Disorder
1.Relate Lamin to progeria
2.Define Lamin a
3.Lamin a causes progeria
4.Lamin disease

VI.Cures/Treatments
A.Looking for a cure
1.Medical diagnosis
2.Cell and Tissue Bank
B.There is no cure
1.Point Mutation
2.Genetic Replication
C.Not cures but make life easier
1.Health
2.Motoring cardiovascular disease
3.Coronary artery bypass surgery
4.Aspirin
5.Physical and/ or Occupational Therapy
D.Appearance
1.Hormones
2.Dental surgery
VII.Research/ Advances
A.Dr. Francis Collins
1.Past
2.Meeting Meg
3.Progerin
4.New Drug
a)Rapamycin
1)Results
(2)Side effects of rapamycin
5.RAD001
a)Modified version of rapamycin
b) Lesser side effects
VIII.What can you do?
A.Citizen knowledge
B.Progeria Research Foundation
1.Conferences
2.Birthday wish lists
3.Miracle maker
4.Translator
IX.Conclusion
A.Summary
B.Closing thoughts

Hutchinson- Gilford Progeria Syndrome
It is a parent’s worst fear when their child turns thirteen. Thirteen year olds typically are winy, bratty kids who think they know anything and everything. This is the stage when children go through puberty; just that thought makes parents cringe because they know the “talk” is coming soon. All parents want their children to freeze at thirteen in order to prevent them from experiencing the real world. However, deep down inside they have the security that even though their children are growing up, they have many more important milestones to accomplish. What if that security was nonexistent and life ended at thirteen? Existence would be vastly incomplete and major milestones would never be accomplished. The highlights of life such as: the first kiss, the college experience, the first job, the fairy tall wedding, and that first child, are all incapable of happening at thirteen years of age. Aging is a progression that takes place over time through memories. What if when a child is...
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