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... :)

2. 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

3. 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

4. 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

5. 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

6. 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.

7. 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

8. 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

9. 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

10. 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.

11. •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.

12. 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

13. 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.

14. 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.