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What is Progeria?

Progeria, or Hutchinson-Gilford Progeria Syndrome, is a rare, fatal, “premature aging” disease that afflicts children, who die of atherosclerosis (heart disease) at an average age of thirteen years (with a range of about 8 - 21 years).


Progeria, or Hutchinson-Gilford Progeria Syndrome, is a rare, fatal, “premature aging” disease that afflicts children, who die of atherosclerosis (heart disease) at an average age of thirteen years (with a range of about 8 - 21 years).
Acknowledgement of Progeria has not been added yet.
Synonyms for Progeria has not been added yet.
The gene responsible for HGPS is called LMNA (pronounced “lamin-a”). Within this gene there is a change in one piece of DNA that is responsible for Progeria. This type of gene change is called a point mutation. The LMNA gene makes a protein called Lamin A, which is an important protein for most cells of our bodies. Lamin A is found in the cell nucleus (the part of each cell that contains the DNA), and helps maintain the shape and function of the cell. The point mutation compromises that cell integrity, causing Progeria. With its genetic alteration, the LMNA gene produces an abnormal lamin A protein called progerin. In children with Progeria, progerin is produced by many cells in the body, and therefore affects many of the body’s systems such as the blood vessels, skin and bones. As the children age, progerin builds up in the cells and causes progressive disease. We also now know that, although children with Progeria make progerin, the rest of us make progerin too, in much lower quantities, and the amount of progerin in the rest of us increases with age. Therefore, by working to help children with Progeria, we may have discovered a brand new protein that affects heart disease and aging in all of us
Although most are born looking healthy, children with Progeria begin to display many characteristics of accelerated aging at around 18-24 months of age. Progeria signs include growth failure, loss of body fat and hair, skin changes, stiffness of joints, hip dislocation, generalized atherosclerosis, cardiovascular (heart) disease and stroke. Remarkably, the intellect of children with Progeria is unaffected, and despite the unusual physical changes in their young bodies, these extraordinary children are intelligent, courageous, and full of life. The children have a remarkably similar appearance, despite differing ethnic backgrounds.
The Progeria Research Foundation (PRF) provides a genetic test for Progeria through The PRF Diagnostic Testing Program. Previously we could only diagnose HGPS using clinical information such as an overall look at the outer, physical appearance and X-rays. Now we have a genetic test that can more definitively identify HGPS. The first step is for PRF's medical director to look at the child’s clinical history. Then, if HGPS is a possible diagnosis, a blood test is performed.
Diagnostic tests of Progeria has not been added yet
The discovery of this new protein called progerin has allowed us to understand much more about how Progeria is caused, and led to first-ever drug treatment trials for Progeria using farnesyltransferase inhibitor (FTI), pravastatin and zoledronic acid. AS of Marhc 2010, results of the FTI-only trila are pending, and the trial with all 3 drugs is underway. There are also formal healthcare recommendations on Cardiac Care, Nutrition, and Occupational Therapy/Physical Therapy through The Progeria Research Foundation.
Currently, Progeria is uniformly fatal.
Tips or Suggestions of Progeria has not been added yet.
References of Progeria has not been added yet.
Find the Other 150 Created by Eric
Last updated 3 Mar 2010, 03:45 PM

Posted by agordon
3 Mar 2010, 03:44 PM

Hi eric, Thanks for spreading the word on our Find the Other 150 Campaign. You'll be happy to know that it's working! We've indentified 5 more kids in just 3 months - unprecedented!

Posted by Eric
29 Jan 2010, 03:32 PM

Fifty-four children around the world have been diagnosed with the extremely rare "rapid aging" disease, progeria. However, experts believe there are approximately 150 additional children with this disease. A global campaign has been launched to find them. To learn more about progeria, its link to heart disease and normal aging, and the "Find the Other 150" campaign, go to

Community External News Link
Title Date Link
Eiger BioPharmaceuticals Completes Submission of New Drug Application to FDA for Lonafarnib for Treatment of Progeria and Progeroid Laminopathies 03/29/2020
FDA Approves First Treatment For Hutchinson-Gilford Progeria Syndrome And Some Progeroid Laminopathies 11/22/2020
Could CRISPR Be the Key for Rapidly Aging Children? 01/10/2021
Hutchinson-Gilford Progeria Syndrome: What to Know About the Rare and Fatal Genetic Disorder 01/15/2022
Community Resources
Title Description Date Link

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CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

Enrolling is easy.

  1. Complete the screening form.
  2. Review the informed consent.
  3. Answer the permission and data sharing questions.

After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit to enroll.

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I am the proud father of Gabrielle Macari who was born in June 2016 with Neonatal Progeroid Syndrome. Gabby is extraordinary, and one of very few children to receive this diagnosis. We have worked...
I am the operations director of non-profit foundation, Bring Me Hope. We run summer camps for Chinese orphans and provide year-round child advocacy.
I am the co-founder and Executive Director of The Progeria Research Foundation, founded in 199 with a mission to discover the cure and effective treatment for Progeria and its aging related...

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Find the Other 150

Created by Eric | Last updated 3 Mar 2010, 03:45 PM


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