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PROGERIA

ADALIA ROSE

More About Progeria ...

The average life expectancy for a child with progeria is about 13, but some with the disease die younger and some live 20 years or longer.

"I call myself a first lady because I'm the first black child with this disease ... Which other black child do you know with this disease?"

THE END

ANY QUESTIONS OR COMMENTS?

How many children in the world are diagnosed with Progeria?

Conclusion

(Farnesyltransferase inhibitors) FTIs - a potential drug treatment for children with Progeria

and since the children been using it they have been getting better, but there is still NO CURE for progeria.

Case Study

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As of February 2013, there are 100 children living in 36 different countries who have been diagnosed with Progeria

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Ontlametse Phalatse is 12 years old and she is the first black child diagnosed with this rare disease, she lives in south African.

Ontametse was treated differently because her teacher and classmates thought she had aid.

But two years ago her mother got her tested and they found out that she had progeria .

Every year she flys to the U.S to be in a research funded by Progeria Research Foundation it gives her medicine that she cannot get in Africa.

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http://i.i.com.com/cnwk.1d/i/tim/2011/09/09/progeria-AP110824079526_220x157.jpg

Attention Grabber

By : Bria Young Dillette

http://www.google.com/search?q=progeria&hl=en&source=lnms&tbm=isch&sa=X&ei=bT2aUceJF9Wy4APhvYGoDw&sqi=2&ved=0CAcQ_AUoAQ&biw=1366&bih=643#imgrc=Qpt6Ywa3iBC3XM%3A%3BxTrMjsOBCOTD0M%3Bhttp%253A%252F%252Fwww.alienufotruth.com%252Fwp-content%252Fuploads%252F2010%252F07%252Fhutchinson-gilford-progeria.jpg%3Bhttp%253A%252F%252Fwww.alienufotruth.com%252Fthe-starchild-human-or-alien%252F%3B275%3B369

  • Thin lips
  • Visible veins
  • Prominent eyes
  • Small lower jaw
  • High-pitched voice
  • Delayed and abnormal tooth formation
  • Stiff joints
  • Hip dislocation
  • Irregular heartbeat

Symptoms

  • Slowed growth, with below-average height and weight
  • A narrowed face and beaked nose
  • Hair loss including eyelashes and eyebrows
  • Hardening and tightening of skin
  • Head to big for face

http://2.bp.blogspot.com/_W9BpZ2rFp_o/SN38sNQyyCI/AAAAAAAAAF4/yNldmCZNDcQ/s320/346_450progeriaXX_closeup.jpg.FP.jpg

Project Overview

http://www.google.com/search?q=progeria&hl=en&source=lnms&tbm=isch&sa=X&ei=bT2aUceJF9Wy4APhvYGoDw&sqi=2&ved=0CAcQ_AUoAQ&biw=1366&bih=643#imgrc=IR7a2u-lCGodCM%3A%3BvYGAOediQn-ZpM%3Bhttp%253A%252F%252F1.bp.blogspot.com%252F-zF3ygTBtKD8%252FUIyxssePnRI%252FAAAAAAAAAEI%252FCt1jIsxE7RY%252Fs1600%252Fprogeria%252B-%252Bprogeria%252Bdisease%252B1.jpg%3Bhttp%253A%252F%252Fmalattierarediseases.blogspot.com%252F2012%252F10%252Fprogeria-progeria-disease.html%3B408%3B460

  • Purpose/ Reason For Picking This Rare Topic
  • Essential Question
  • What is Progeria
  • History
  • Causes
  • Symptoms
  • Affects
  • Driving Questions
  • Case Study
  • ACP
  • Conclusion

http://media-cache-ec3.pinimg.com/avatars/lynneprogeria-29_600.jpg

Progeria is sporadic autosomal dominant

http://www.google.com/search?hl=en&q=proigeria+kids+and+parents&bav=on.2,or.r_qf.&bvm=bv.46751780,d.dmg&biw=1366&bih=643&um=1&ie=UTF-8&tbm=isch&source=og&sa=N&tab=wi&ei=ZWaZUeeAF9Go4AOVsIDADw#um=1&hl=en&tbm=isch&q=progeria+kids+and+parents&spell=1&sa=X&ei=aGaZUbrNAc_F4AO7j4CQDA&ved=0CFIQBSgA&bav=on.2,or.r_qf.&bvm=bv.46751780,d.dmg&fp=14bcdb91e4000805&biw=1366&bih=643&imgrc=j2lr77vcCLBW6M%3A%3BftpvN_TUeDScDM%3Bhttp%253A%252F%252Fmedia.pennlive.com%252Fpatriot-news%252Fphoto%252F9034100-large.jpg%3Bhttp%253A%252F%252Fwww.pennlive.com%252Fmidstate%252Findex.ssf%252F2010%252F11%252Fschuylkill_county_boy_with_rar.html%3B380%3B253

Children that have Progeria appear normal at birth but by 12 months signs and symptoms start to become noticeable .

Can Progeria be passed down from parent to child?

http://userfiles.steadyhealth.com/sites/steadyhealth.com/modules/infocenter/data/images/progeria_symptoms_and_treatment.png

HGPS is not usually passed down in families

But in some cases....

Parents that never had a child with Progeria, the chances of having a child with Progeria are 1 in 4 – 8 million.

Parents who have already had a child with Progeria, the chances of it happening again the states are higher by about 2-3%

Causes

Progeria is caused by a mutation in the gene called LMNA.

The LMNA gene produces the Lamin A protein which hold the nucleus together

Cell With Progeria

  • The gene LMNA encodes a protein called prelamin A.
  • Prelamin A has a farnesyl group attached to its end.
  • Farnesyl group remains attached to prelamin A.
  • Abnormal form of prelamin A is called progerin.
  • Progerin is anchored to the nuclear rim.
  • Abnormally shaped nucleus.

http://en.wikipedia.org/wiki/Progeria

Normal Cell

  • The gene LMNA encodes a protein called prelamin A.
  • Prelamin A has a farnesyl group attached to its end.
  • Farnesyl group is removed from prelamin A.
  • Normal form is called prelamin A.
  • Prelamin A is not anchored to the nuclear rim.
  • Normal state of the nucleus.

Hasting Gilford

Essential Question

http://www.google.com/search?q=picture+of+a+cell+with+with+progeria&hl=en&tbm=isch&tbo=u&source=univ&sa=X&ei=WhWZUbH8Oe2t4APSr4DgCQ&ved=0CCsQsAQ&biw=1024&bih=650#imgrc=QEdpM5uC2DdrwM%3A%3BdlZwweGBCHbuYM%3Bhttp%253A%252F%252Fwww.istem.eu%252Fwp-content%252Fuploads%252F2012%252F10%252Fprogeria-1.jpg%3Bhttp%253A%252F%252Fwww.istem.eu%252Fen%252Fbiotherapies%252Fprogeria-project%252F%3B405%3B200

What causes progeria and how does it affect them?

http://progeria2010researchproject.weebly.com/uploads/5/8/7/9/5879933/466790.jpg?398

http://tpe-progeria.e-monsite.com/medias/images/hastings-gilford.jpg

What Is Progeria?

History

Aging - the process of growing old

The term progeria comes from the Greek word meaning " prematurely old. Johnthan Hutchinson and Hasting Gilford discovered this disease in 1886.

Hutchinson-Gilford Progeria Syndrome is a rare, fatal genetic condition characterized by an appearance of rapid aging in children.

Johnthan Hutchinson

ACP

http://upload.wikimedia.org/wikipedia/commons/thumb/f/f9/Jonathan_Hutchinson.jpg/220px-Jonathan_Hutchinson.jpg

For my actionable change product I went to CHOP hospital and spoke with children and told them about Progeria and explained to them what they are going through other kids are to and their disease is going on un looked & I asked them how would they feel if there sickness was un looked. When I was finished talking to them I gave out bracelets that said "DARE TO HOPE" and told them when they look at the bracelet remember the kids with progeria

How is Progeria Diagnosed?

http://3.bp.blogspot.com/-ubnOtV2qZmU/UHdlOE348_I/AAAAAAAAAvo/DZvNCGZO1Co/s1600/prog.jpg

Affects

By looking at the specific genetic change, or mutation, in the Progeria gene that leads to HGPS. After an clinical evaluation looking at the child's appearance and medical records and a sample of the child's blood will be tested for the Progeria gene.

  • Progeria affects about 1 in 4 - 8 million newborns
  • It affects both sexes equally and all races.
  • Death occurs due to widespread heart disease
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