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Please note that the Quick Facts are currently updated in the English version only; all others have the September 2012 version. For the most part, only the numbers have changed.
MISSION: To Discover Treatments and the Cure for Hutchinson-Gilford Progeria Syndrome and its Aging-related Disorders, Including Heart Disease
PRF BY THE NUMBERS as of March 8, 2016:
- Identified children living with Progeria: 134* in 46 countries
- PRF-sponsored Progeria Clinical Drug Trials: 3
- Grants funded: 62, totaling nearly $6.7 million
- Cell lines in the PRF Cell & Tissue Bank: 197
- Children in PRF’s Medical & Research Database: 148
- International Scientific Workshops on Progeria: 10
- Number of languages into which PRF’s program and medical care materials are translated: 28
- Increase in scientific publications since the Progeria gene discovery: 2,200%
*Includes 28 children in the Progeroid Laminopathy category who have a mutation in the Lamin pathway, but do not produce progerin.
Total Dollars Raised
1999 through 2015: $21,586,554
Approximately 85% of PRF’s annual expenses are consistently dedicated to its programs and services - one factor in our achieving a coveted 4-star rating from Chairty Navigator.
The support we have received made the Progeria gene discovery, the Progeria clinical trials and all of our other extraordinary progress possible. With the help of current and new supporters, we will win this race against time and find treatments and the cure for these special children. Moreover, Progeria treatment discoveries may also help millions with heart disease and the entire aging population.
Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS), is a rare, fatal genetic condition of accelerated aging in children. Children with Progeria die of the same heart disease that affects millions of normally aging adults (arteriosclerosis), but at an average age of just 14 years. Remarkably, their intellect is unaffected, and despite significant physical changes in their young bodies, these extraordinary children are intelligent, courageous, and full of life.
The Progeria Research Foundation (PRF) was established in 1999 by Drs. Leslie Gordon and Scott Berns, the parents of a child with Progeria, along with many dedicated friends and family who saw the need for a medical research resource for the doctors, patients, and families of those with Progeria. Since that time, PRF has been the driving force behind the Progeria gene discovery and the first-ever Progeria drug treatment. PRF has developed programs and services to aid those affected by Progeria and the scientists who conduct Progeria research. Today, PRF is the only non-profit organization solely dedicated to finding treatments and the cure for Progeria. PRF is hailed as a prime example of a successful translational research organization, moving from creation, to gene discovery, to first-ever drug treatment in just 13 years.
WHO’S WHO AT PRF?
Audrey Gordon, Esq., President and Executive Director, Co-Founder
Working closely with the Board of Directors, officers, staff and volunteers, Ms. Gordon is responsible for day-to-day management and for ensuring The Progeria Research Foundation's financial growth and program development.
Leslie B. Gordon, MD, PhD, Medical Director, Co-Founder
Dr. Gordon co-founded PRF with friends and family after her son, Sam, was diagnosed with Progeria. Dr. Gordon oversees PRF’s research-related programs, and is a co-chair for the Progeria clinical drug trials. She is an Associate Professor of Pediatrics Research at the Warren Alpert Medical School of Brown University and Hasbro Children’s Hospital in Providence, RI, and a Staff Scientist at Boston Children’s Hospital and Harvard Medical School.
Scott D. Berns, MD, MPH, FAAP, PRF Chairman of the Board, Co-Founder
Dr. Berns, Sam’s father, is a co-founder of The Progeria Research Foundation and serves as Chairman of the Board. He is a Board Certified Pediatrician and Clinical Professor of Pediatrics at the Alpert Medical School of Brown University. He is also President and CEO of the National Institute for Children’s Health Quality, an independent, nonprofit organization working to improve children’s health.
Tina, Brandon, Brittany and Zach Pickard, PRF’s Ambassador Family
The family of 9-year-old Zach lives in Lexington, Kentucky, and is an integral part of PRF’s efforts to raise public awareness, and raise funds for research. We appreciate the time and effort they devote to these important activities.
WHAT IS PROGERIA?
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 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. Hastings Gilford.
* Other Progeroid syndromes include Werner’s syndrome, also known as “adult progeria” which does not have an onset until the late teen years, with a lifespan into the 40’s and 50’s.
HOW COMMON IS PROGERIA?
Progeria affects approximately 1 in 4 - 8 million newborns. There are an estimated 200-250 children living with Progeria worldwide at any one time. It affects both sexes equally and all races. Since The Progeria Research Foundation was created in 1999, we have discovered children with Progeria living in over 40 countries♦.
WHAT ARE THE FEATURES OF PROGERIA?
Although they are usually born looking healthy, most children with Progeria begin to display many characteristics of Progeria within the first year of life. Progeria signs include growth failure, loss of body fat and hair, aged-looking skin and stiffness of joints. As children get older, they suffer from osteoporosis, generalized atherosclerosis, cardiovascular (heart) disease and stroke. The children have a remarkably similar appearance despite differing ethnic backgrounds. Children with Progeria die of atherosclerosis (heart attacks or strokes) at an average age of thirteen years.
Progeria Cell Nucleus
WHAT IS THE CAUSE OF PROGERIA?
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. The abnormal lamin A protein that causes Progeria is called progerin. Progerin makes the nucleus unstable. That cellular instability leads to the process of premature aging and disease in Progeria.
PRF was the driving force behind finding the gene responsible for Progeria. A group of leading scientists from PRF’s Genetics Consortium was able to isolate the Progeria gene, and in April 2003, PRF led the announcement reported in the top scientific journal Naturev.
“Isolating the Progeria gene is a major achievement for the medical research community,” said Dr. Francis Collins, Director of the National Institutes of Health and senior discoverer of the Progeria gene, “The discovery not only gives hope to children and families affected by Progeria, but also may shed light on the phenomenon of aging and cardiovascular
Progeria cell nucleusdisease.”
v “Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford Progeria Syndrome”, Nature, Vol. 423, May 15, 2003.
WHAT DOES PROGERIA HAVE TO DO WITH AGING?
We now know that there is a biological overlap between children with Progeria and the general aging population. We all make a little bit of progerin, the disease-causing protein in Progeria. We make much less progerin than children with Progeria, but the progerin builds up over a lifetime and may be partly responsible for aspects of aging such as atherosclerosis. Progerin is also linked to telomere dysfunction. Telomeres are proteins that play a major role in cellular aging.
Children with Progeria are genetically predisposed to premature, progressive heart disease. Death occurs almost exclusively due to widespread heart disease, the leading cause of death worldwide.+ Thus, there is clearly a tremendous need for research in Progeria. Finding a cure for Progeria will not only help these children, but may provide keys for treating millions of adults with heart disease and stroke associated with the natural aging process.
+ 2012 American Heart Association Heart Disease and Stroke Statistics
IS PROGERIA PASSED DOWN FROM PARENT TO CHILD?
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 – sporadic because it is a new change in that family, and dominant because only one copy of the gene needs to be changed in order to have the syndrome. For parents who have never had a child with Progeria, the chances of having a child with Progeria are 1 in 4 – 8 million. But for parents who have already had a child with Progeria, the chances of it happening again to those parents is much higher – about 2-3%. Why the increase? This is due to a condition called “mosaicism”, where a parent has the genetic mutation for Progeria in a small proportion of their cells, but does not have Progeria. Prenatal testing is available to look for the LMNA genetic change that causes HGPS.
HOW IS PROGERIA DIAGNOSED?
Now that the gene mutation has been identified, The Progeria Research Foundation has a Diagnostic 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 Progeria. Now there is a definitive, scientific way to diagnose the children. This leads to more accurate and earlier diagnoses so the children can receive proper care.
HOW IS PRF ADVANCING THE RESEARCH TOWARD A FUTURE CURE, AND HELPING CHILDREN WITH PROGERIA TODAY?
The Progeria Research Foundation funds medical research aimed at developing treatments and a cure for Progeria. PRF also has its own Cell and Tissue Bank that provides the biological materials researchers need to conduct their experiments. Additionally, PRF has established a Medical and Research Database to supply physicians and families with medical recommendations for cardiac care, nutrition and other medical issues to help children and adults with Progeria have a better quality of life. We continue to analyze medical records of children and adults with Progeria so that we can provide information on how best to medically help those with Progeria, and provide clues towards potential new treatments. In April 2010, PRF published The Progeria Handbook for families and doctors. From basic health facts to daily care recommendations to extensive treatment guidelines, the handbook helps answer many questions for people suffering from Progeria throughout the world. The Handbook is available in English, Spanish and Portuguese.
PRF is also driving Progeria clinical drug trials testing potential treatments. To date, PRF has funded and co-coordinated three clinical trials. Please refer to www.progeriaresearch.org/clinical_trial for more details. History was made in September 2012 with the discovery that the drug involved in the first clinical trial, a farnesyltransferase inhibitor or FTI , is the first-ever treatment for Progeria. PRF continues to explore other promising drugs that will bring us to a cure for Progeria.
WHAT CAN YOU DO TO HELP CHILDREN WITH PROGERIA?
Campaign to raise awareness of Progeria among medical professionals, parents and caretakers.
FOR IMMEDIATE RELEASE:
Progeria Research Foundation Launches Global Awareness Campaign to “Find the Other 150” Undiagnosed Children with Fatal Rapid-Aging Disease Campaign to raise awareness of Progeria symptoms among medical professionals, parents and caretakers.
BOSTON, MA (October 25, 2009) – The Progeria Research Foundation (PRF) announced today the launch of a global Progeria awareness campaign, “Find the Other 150." This campaign will drive the search for unidentified children with the fatal, rapid-aging disease, Progeria, in the Americas, Europe, Russia, Asia and Africa. PRF has partnered with global communications experts to raise awareness of the disease among both the general public and global medical communities in hopes of identifying these undiagnosed children.
Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS), is a rare, fatal genetic condition characterized by the appearance of accelerated aging in children. Symptoms of Progeria include growth failure, loss of body fat and hair, aged-looking skin, stiffness of joints, hip dislocation, generalized atherosclerosis, cardiovascular (heart) disease and stroke. There are 52 known children with Progeria in 29 countries around the world, but statistically, scientists believe that there are approximately 150 additional unidentified children with this condition. Efforts to find these children will ultimately allow PRF to provide them with the medical services and unique care they need.
“Our goal is to find these children as quickly as possible so we can educate their families and health-care providers on the latest in Progeria research and treatments. We are excited to launch this campaign with GlobalHealthPR because their global reach will help us spread awareness to a worldwide audience,” said Audrey Gordon, President and Executive Director of PRF.
This disease hits close to home for Gordon and her sister, PRF Medical Director Dr. Leslie Gordon. Dr. Gordon's son was diagnosed with Progeria more than a decade ago, and the family has since dedicated their lives to finding a treatment and cure for the disease.
"As a fellow parent of a child with Progeria, I don't want anyone else to feel helpless in diagnosing and treating their child," says Gordon."The 150 campaign will allow me to provide these children with life-changing treatments and connect them with local medical professionals and other families of children with Progeria."
If someone you know or treat has Progeria-like characteristics, please contact The Progeria Research Foundation at www.findtheother150.org for resources that will help to provide them the best treatment possible.
The Progeria Research Foundation (PRF) was established in 1999 to find the cause, treatment and cure for Progeria – a rapid aging disease that causes children to die from heart disease or stroke at an average age of 13. In the past 10 years, research conducted in partnership with PRF has identified the gene that causes Progeria and identified a possible treatment for children with Progeria. PRF is now funding the first-ever clinical trial, currently underway at Children’s Hospital Boston. To learn more about Progeria and what you can do to help, please visit progeriaresearch.org
GlobalHealthPR unites owner-managed public relations agencies that are successful, insightful and experienced in their local markets, offering clients a better way to deliver communications in the diverse healthcare environment. The independent nature of GLOBALHealthPR ensures accountability and commitment to clients and staff. With more than 200 healthcare communications specialists, GLOBALHealthPR is the largest organisation dedicated exclusively to healthcare communications worldwide. www.globalhealthpr.com/. GlobalHealthPR is represented in the United States by Spectrum, a health and science communications firm based in Washington, D.C.
Find the Other 150 Campaign Press Release
Progeria Fact Sheet
PRF Quick Facts