Hutchinson-Gilford Progeria Syndrome (“Progeria”, or “HGPS”) is a rare, fatal genetic condition characterized by an appearance of accelerated aging in children. Its name is derived from the Greek and means "prematurely old." While there are different forms of Progeria*, the classic type is Hutchinson-Gilford Progeria Syndrome, which was named after the doctors who first described it in England; in 1886 by Dr. Jonathan Hutchinson and in 1897 by Dr.

Progeria has a reported incidence of about 1 in 4 - 8 million newborns. It affects both sexes equally and all races. In the past 15 years, children with Progeria have been reported all over the world, including in Algeria, Argentina, Australia, Austria, Canada, China, Cuba, England, France, Germany, Israel, Italy, Mexico, the Netherlands, Poland, Puerto Rico, South Africa, South America, South Korea, Switzerland, Turkey, the US, Venezuela, Vietnam and Yugoslavia.

Although they 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, aged-looking skin, stiffness of joints, hip dislocation, generalized atherosclerosis, cardiovascular (heart) disease and stroke. The children have a remarkably similar appearance, despite differing ethnic backgrounds.

HGPS is caused by a mutation in the gene called LMNA (pronounced, lamin – a). The LMNA gene produces the Lamin A protein, which is the structural scaffolding that holds the nucleus of a cell together. Researchers now believe that the defective Lamin A protein makes the nucleus unstable. That cellular instability appears to lead to the process of premature aging in Progeria. PRF was the driving force behind finding the gene responsible for Progeria.

Now that the gene mutation has been identified, The Progeria Research Foundation has created a Diagnostics Testing Program. We can now look at the specific genetic change, or mutation, in the Progeria gene that leads to HGPS. After an initial clinical evaluation (looking at the child’s appearance and medical records), a sample of the child’s blood will be tested for the Progeria gene. For the first time ever, there is a definitive, scientific way to diagnose the children.

Children with Progeria are genetically predisposed to premature, progressive heart disease. Death occurs almost exclusively due to widespread heart disease, one of the leading causes of death worldwide.+ As with any person suffering from heart disease, the common events for Progeria children are high blood pressure, strokes, angina (chest pain due to poor blood flow to the heart itself), enlarged heart, and heart failure, all conditions associated with aging.

HGPS is not usually passed down in families. The gene change is almost always a chance occurrence that is extremely rare. Children with other types of “progeroid” syndromes which are not HGPS may have diseases that are passed down in families. However, HGPS is a “sporadic autosomal dominant” mutation.

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The Progeria Research Foundation funds medical research aimed at developing treatments and a cure for Progeria. PRF also has its own Cell & Tissue Bank that provides the biological materials researchers need to conduct their experiments. The PRF Cell & Tissue Bank was instrumental in the recent discovery of the Progeria gene. Cell lines from the PRF Cell Bank were essential to the experiments that led to the Progeria gene discovery.

On April 16, 2003, it was announced that the gene for Progeria had been discovered, and PRF played a major role in that discovery! Go to Progeria Gene Discovered for more information. Also, here are some cites to scientific articles on the gene mutation: quot;Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford Progeria Syndrome", Vol. 423, May 15, 2003, Nature. quot;Cause of Progeria's Premature Aging Found; expected to Provide Insight into Normal Aging Process", Vol.

Unfortunately, we cannot provide interviews and we do not provide the contact information of others. However, our Medical Director has helped create this Q and A and all other information on Progeria that appears on this site, so perhaps that is sufficient to satisfy the interview requirement for your report.

of February 2006, there are 42 children living in 20 different countries who have been diagnosed with Progeria; however we believe that there are more children who have this condition, but have not yet been diagnosed.

John Tackett, our first youth Ambassador, was interviewed about what it's like to live with Progeria and other questions. You can find this information on our web site for PRF Spokespeople and at John Tacket Interview. Not at all. Children with Progeria are intelligent and full of energy just like other kids their age.

While Progeria is an extremely rare disease - known to currently affect only 42 children worldwide -all children with Progeria die of severe premature atherosclerosis (heart disease). When you help children with Progeria, you are helping to save the lives of children with a 100% fatal disease.

In addition to finding the cause, treatment and cure for Hutchinson-Gilford Progeria Syndrome, part of our mission is to promote public awareness of this disease. By doing a report on Progeria, you are helping us accomplish that part of our mission. Thank you, we're glad to help! Before you read any further, please visit our Frequently Asked Questions section to learn more about Progeria. Other sections you may find helpful are The Connection to Other Diseases , and The Science Behind Progeria.

Children with Progeria are able to participate in all the same educational programs and sports activities as other children. With the exception of having Progeria, these children are just like every other child. Most have no special capacities or limitations other than those that their shorter stature and perhaps stiff joints cause for some activities.

Most of all, it is important to remember that all children with Progeria have age appropriate intellect and personality. An eight-year-old with Progeria will think and act just like every other eight-year-old. Children with Progeria are smart and funny and full of life. It's the bodies of these children that are laden with the genetic predisposition toward conditions of aging and heart disease, not their minds.

Wow - that's terrific! Depending on where you are in your education, this answer varies. We suggest that you consult with your guidance or career counselor at school for the best course of action. Your idea of wanting to become pen-pals is really great, but all contact information for the families and the children is confidential, so we wouldn't be able to give you their names and email addresses. However, the links section lists some web sites for families with children that have Progeria.