PROGERIA
LAURA CLARKE
WHAT IS PROGERIA
Hutchinson-Gilford progeria
is a rare and fatal genetic
condition characterized by
an appearance of
accelerated aging in
children. Children look
normal at birth and in
infancy but grow slowly
compared to children without
the disease they do not gain
weight at expected rate.
REFERENCES
Rare-disease studies seek online
giving. (2011). Nature.com.
Retrieved April 14, 2014, from
http://www.nature.com/news/2011
/110627/full/news.2011.387.html
Learning About Progeria. (2013).
Learning About Progeria. Retrieved
April 14, 2014, from
http://www.genome.gov/11007255
Life According To Sam Berns.
(2014). Life According To Sam
Berns. Retrieved April 14, 2014,
from
http://www.medpagetoday.com/Cel
ebrityDiagnosis/42315
Children in rapid aging bodies
PROGERIA
 Affects 1 in 4-8 million
newborns.
 Only about 200-250 children
living with Progeria
 And only expected to live until
age 13
What Causes Progeria
ANY TREATMENTS?
Progeria is caused by a mutation
A new clinical trial is happening
in the gene called LMNA. LMNA
for progeria. There are two drugs
gene produces the Lamin A
that target different pathways to
protein. This protein is what
the production of the Lamin A
holds the nucleus of a cell
protein. “Pravastatin, a member of
together. This leads to the cell
the drug class of statins, used for
nucleus being unstable which
lowering cholesterol and preventing
leads to premature aging.
SYMPTOMS OF PROGREIA
cardiovascular disease. Zoledronic
acid is a bisphosphonate, usually
used as a bone drug for improving
osteoporosis, and to prevent skeletal
 Growth failure during the first
year of life
 Narrow, shrunken or wrinkled
face
 Baldness
 Loss of eyebrows and eyelashes
 Short stature
 Large head for size of face
 Open soft spot
 Small jaw
 Dry, scaly, thin skin
 Limited range of motion
fractures in people suffering from
some forms of cancer”
“Megan and Meghan were the first two children to
enroll in the drug trial”