What is Progeria?
Progeria is a genetically dominant disease which is
caused by a single mutation in DNA resulting in
prod...
Progeria in the World
A very rare
disease in this
world which
affects 1 in
four million
people is
Progeria. Till
today 100...
Causes
Mutations in the LMNA gene cause Hutchinson-Gilford

progeria syndrome. The LMNA gene provides instructions
for mak...
Symptoms
• Dwarfism / Limited
Growth
• Alopecia or
baldness
• Small face and a
pinched nose
• Small jaw in
comparison to h...
Treatment
• Till date, there is no particular treatment for Progeria.
• First-Ever Progeria Clinical Drug Trial for Proger...
Results of the Drug Trial
• Weight: one in three children demonstrated a
greater than 50% increase in annual rate of
weigh...
Social Perception of People Towards Progeria
For people, they have different perception to
see this disease such as some p...
Attitude of Progeria Patients Towards Life
In almost all the cases it is a very
good thing that these children are
very po...
Some Progeria Patients
• Sam Berns
On 23rd October 1996 Sam Berns came into this world but

with a single mutation in his ...
•Zack Pickard
Zack is a feisty and lively three year old
boy. He goes to day
care school each day and fits in perfectly
wi...
Progeria Patients and Their
Parents
Talking
about
parents,
it
is
very
encouraging to see their positive attitude
towards t...
Progeria Research Foundation
• Research foundation established by Dr. Leslie
B. Gordon , Dr. Scott Berns and Audrey Gordon...
References
• BMJ. (1974). Premature Aging Syndromes. The British
Medical Journal, Vol. 4, No. 5943, 489-489
• Cao, K., Cap...
Progeria
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Progeria

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A Disease which is very rare and today's one of the major subject of medical research. hope it may help u to get some idea... :)

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Progeria

  1. 1. What is Progeria? Progeria is a genetically dominant disease which is caused by a single mutation in DNA resulting in production of Progerin. Progeria is an extremely rare, fatal genetic condition. The word Progeria comes from the Greek progeros which means prematurely old. The classic type of Progeria is HGPS (Hutchinson-Gilford Progeria Syndrome). Progeria was first described in an academic journal by Dr. Jonathan Hutchinson in 1886 and Dr. Hasting Gilford in 1897- both in England. It is a genetic condition characterized by the
  2. 2. Progeria in the World A very rare disease in this world which affects 1 in four million people is Progeria. Till today 100 cases are
  3. 3. Causes Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome. The LMNA gene provides instructions for making a protein called lamin A. This protein plays an important role in determining the shape of the nucleus within cells. It is an essential supporting component of the nuclear envelope, which is the membrane that surrounds the nucleus. Mutations that cause Hutchinson Gilford progeria syndrome result in the production of an
  4. 4. Symptoms • Dwarfism / Limited Growth • Alopecia or baldness • Small face and a pinched nose • Small jaw in comparison to head size • Delayed tooth development • Loss of eyebrows/ hair • Stiff joints / limited range of motion • Frequent hip dislocation • Premature Arteriosclerosis • Cardiovascular Problems • No sexual
  5. 5. Treatment • Till date, there is no particular treatment for Progeria. • First-Ever Progeria Clinical Drug Trial for Progeria started in Boston by Progeria Research Foundation in May 2007 which involved 28 children of age 3 to 15 years from 16 countries across the world. • Since the start of the first trial, researchers identified two additional drugs that, when used in combination with the current drug being tested, may provide an even more effective treatment than the single drug. • The Triple Drug Trial is much larger than the first, involving 45 children from 24 countries: most of the 28 in the first trial, and those that were either too young for the first trial or not known to PRF during enrolment for that trial.
  6. 6. Results of the Drug Trial • Weight: one in three children demonstrated a greater than 50% increase in annual rate of weight gain, or switched from weight loss to weight gain, because of increased muscle and bone mass. • Bone Structure: Bone rigidity improved to normal level after FTI treatment. • Cardiovascular: Arteries stiffness, associated
  7. 7. Social Perception of People Towards Progeria For people, they have different perception to see this disease such as some people see it as something weird or some are quite sympathetic towards these children and some fear to these children. Sometimes these children experience some really weird response from the audience because people stare at them as if they are from outside this world. Sometimes, at some parts of world such as India, people fill this as something to
  8. 8. Attitude of Progeria Patients Towards Life In almost all the cases it is a very good thing that these children are very positive about their life. They live life like all other normal children. For them, Progeria is not that they have in their life, rather it is just a small
  9. 9. Some Progeria Patients • Sam Berns On 23rd October 1996 Sam Berns came into this world but with a single mutation in his DNA. He appeared healthy when he was born. But within a year, his parents suspected something was wrong. He was diagnosed at 22 months. Sam died last Friday at the age of 17—an unusually long life considering that most progeria patients die at an average age of 13. Before he died, he built entire Lego towns, earned middleschool awards, played in his high-school marching band, went to the prom, and dreamed of going to MIT in hopes of becoming an inventor, according to the HBO documentary Life According to Sam.
  10. 10. •Zack Pickard Zack is a feisty and lively three year old boy. He goes to day care school each day and fits in perfectly with the other three year olds. He enjoys playing with his trucks and cars, and he loves to paint and draw. His favourite thing to do is to ride in an airplane and he loves to ride the bus.
  11. 11. Progeria Patients and Their Parents Talking about parents, it is very encouraging to see their positive attitude towards their children. They try their level best to take care of their children because every minute spent with them are precious. Many of them also started working towards future to help the children suffering from progeria all over the world. One of its greatest examples is Progeria Research Foundation established by Dr. Leslie Gordon
  12. 12. Progeria Research Foundation • Research foundation established by Dr. Leslie B. Gordon , Dr. Scott Berns and Audrey Gordon in 1999 in Boston. • Before this organisation there was no research going on for Progeria. • PRF was the driving force behind finding the gene responsible for Progeria. A group of leading scientists from prf’s genetics Consortium was able to isolate the Progeria gene in 2003.
  13. 13. References • BMJ. (1974). Premature Aging Syndromes. The British Medical Journal, Vol. 4, No. 5943, 489-489 • Cao, K., Capell, B.C., Erdos, M.R., Djabali, K., Collins, F.S. (2007). A Lamin A Protein Isoform Over expressed in Hutchinson-Gilford Progeria Syndrome Interferes with Mitosis in Progeria and Normal Cells. Proceedings of the National Academy of Sciences of the United States of America, ,Vol. 104, No. 12, 4949-4954 • McClintock, D. Gordon, L.B. Djabali, K. (2006). HutchinsonGilford Progeria Mutant Lamin A Primarily Targets Human Vascular Cells as Detected by an Anti-Lamin A G608G Antibody. Proceedings of the National Academy of Sciences of the United States of America, Vol. 103, No.
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