A power point I made for my Honor's Biology class while learning about genetics. I hope you find it useful!

1. (Hutchinson-Gilford Progeria Syndrome)
By Alexis Goll & Ahliyah Reed

2. Progeria, or Hutchinson-Gilford Progeria Syndrome (HGPS),
is a genetic disorder caused by a gene-mutation that
results in rapid aging in humans. It is extremely rare, and
often just “pops up” in a family. It is believed to be a non-
hereditary disorder, but it is possible that this disorder has
the potential to be hereditary.
There are about 130 cases of this disease
reported ever, about 1 in 4 million babies
have been born with it worldwide. Most
Of these kids don’t live past 13.

3.  The word “Progeria” means “prematurley-old” in Greek.
 Named after the scientists who discovered it, Dr. Jacob
Hutchinson in 1886 and Dr. Hasting Gilford in 1904.
 Major reasearchers of Progeria:
-Dr. Francis Collins, who discovered the gene.
-Doctors at the National Human Genome Research
Institute (NHGRI).
-Dr. Hutchinson & Dr. Gilford.
Dr. Francis Collins, who played
an extremely important role in
not only the discovery of the
LMNA gene, but the entire
Human Genome Progect.

4. Because of the obscurity of the illness, an exact
reason why this happens is still unknown-of.
But, the cause of Progeria occurs because of a
mutation in a gene called LMNA.
LMNA is a gene that produces the protein Lamin-A,
which gives the cells’ nucleuses’ structural support.
Because of the unstable nucleuses in the bodys’ cells,
Progeria occurs.
Unstable,
mutated forms
of the LMNA
gene.

5. There are some early signs of Progeria
that are visibly noticeable:
 Shortened period of growth, stops at
around 6 months to a year.
 Hair loss or lack of hair
Scientists can confirm if a
child has Progeria from
genetic testings for a
mutated LMNA gene.

6.  Stunted growth, small stature
 Loss of all hair, including eyelashes and eyebrows
 Weak, fragile bones and teeth
 Narrowed face and pointed nose
 Heart conditions and failure (these usually are the cause of death)
 Head un-proportionally large in comparison to body
 Little muscle tone and stiff joints (causes motor-skill problems)
 Visible veins on skin, hardened skin
 High-pitched voice
 Lowered jaw, prominent eyes, and thin lips

7. Children with Progeria do not live long because of the state their bodies
are in before they hit puberty; they have the bodies of 80 year old
people. Victims will die usually due to heart failure/disease brought on
by the disorder.
The average life-span of someone with
Progeria is13 years. However, deaths
have ranged from 9 months to about 22
years.
Diagram of Atherosclerosis, or
hardening of the arteries, which is the
main cause of death for people with
Progeria.

8. There is no cure for Progeria, but there are
some things the families of those who have it
can do to make their lives less miserable.
 Regularly take asprin
 Small meals
 Weekly checkups
 Physical therapy and mild physical activity
 Removal of primary teeth
 Other medications for pain.

9. http://www.progeriaresearch.org
http://www.mayoclinic.com
http://www.health.nytimes.com
http://www.ghr.nlm.nih.gov
http://www.hayleyspage.com/progeria
http://www.rareglobaldiseases.com