Documents in other lanaguages: please click on languages to the left for translations of the English documents posted below.
QUICK FACTS as of January 2013
MISSION: To Discover Treatments and the Cure for Hutchinson-Gilford Progeria Syndrome and its Aging-related Disorders
PRF BY THE NUMBERS:
- Identified children living with Progeria: 100* in 36 countries
- PRF-sponsored Progeria Clinical Drug Trials: 3
- Grants funded: 45, totaling nearly $5 million
- Cell lines in the PRF Cell & Tissue Bank: 189
- Children in PRF’s Medical & Research Database: 120
- International Scientific Workshops on Progeria: 7
- Number of languages into which PRF’s program and medical care materials are translated: 20
- Increase in scientific publications since the Progeria gene discovery: 1,500%
*Includes 10 children in the Progeroid Laminopathy category that have a mutation in the Lamin pathway, but do not produce progerin.
Total Dollars Raised
1999 through 2012: $13,756,467
85% of PRF’s annual expenses are consistently dedicated to its programs and services.
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 discoveries are teaching us about the heart disease and the aging that affects us all.
What is Progeria?
Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS), is a rare, fatal genetic condition of accelerated aging in children. All children with Progeria die of the same heart disease that affects millions of normal aging adults (arteriosclerosis), but instead of occurring at 60 or 70 years of age, they may suffer strokes and heart attacks even before age 10. Remarkably, the intellect of children with Progeria is unaffected, and despite startling physical changes in their young bodies, these extraordinary children are intelligent, courageous, and full of life.
What is PRF?
The Progeria Research Foundation (PRF) was established in 1999 by the parents of a child with Progeria, Drs. Leslie Gordon and Scott Berns, and 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 that 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.
PRF’S PROGRAMS & SERVICES
Progeria Clinical Drug Trials and
Clinical Drug Trials bring children from around the
world for promising treatments that may help to improve
disease, and may even extend the lives of children with Progeria. In 2012, history was made with the discovery
that a farnesyltransferase
inhibitor, or FTI, is the first-ever treatment for Progeria - a remarkable step forward in the pursuit of a
cure. PRF continues to
explore other promising drugs, and is currently co-funding and coordinating the
“Triple Drug Trial”, testing FTIs with 2 other drugs. In total, PRF has brought 47 children from 24 countries to Boston for treatment trials.
Since the start of the first trial, researchers identified two additional drugs that, when used in combination with the FTI drug, may provide an even more effective treatment for children with Progeria than the single drug. PRF moved quickly to explore these other treatment options, and in August 2009 PRF and CHB began another clinical trial. The "Triple Drug Trial" is much larger than the first, involving 45 children from 24 countries, speaking 17 different languages
- PRF’s International Progeria Registry: maintains centralized information on children and families living with Progeria. This assures rapid distribution of any new information that may benefit the children.
- Cell & Tissue Bank: PRF’s Bank provides researchers with genetic and biological material from Progeria patients and their families, so research on Progeria and other aging-related diseases can be performed to bring us closer to the cure. PRF has collected an impressive 113 cell lines from affected children worldwide (ages 2 months to 17 years) and 71 lines from their immediate relatives, including 9 Induced Pluripotent Stem Cell (iPSC) lines.
- Medical & Research Database: The Database is a centralized collection of medical information from Progeria patients worldwide. The data is rigorously analyzed to help us understand more about Progeria and devise treatment recommendations. In 2010, this analysis contributed to PRF’s comprehensive healthcare Handbook on Progeria aimed at optimizing quality of life. The Handbook is available in English, Spanish and Portuguese.
- Diagnostic Testing: This program was developed in the wake of the 2003 gene discovery so that children, their families and medical caretakers can get a definitive, scientific diagnosis. This can translate into earlier diagnosis, fewer misdiagnoses and early medical intervention to ensure a better quality of life for the children.
- Scientific Workshops on Progeria: PRF has organized 7 scientific conferences that have brought together scientists and clinicians from all over the world to share their expertise and cutting edge scientific data, and foster collaboration in the fight against this devastating disease.
- Research Grants: PRF has awarded 43 research grants totaling over $3.5 million through peer review by our volunteer Medical Research Committee. Awards of up to $100,000 per year, for up to three years, have allowed innovative new research in Progeria to thrive.
- Publications and Research: Both clinical and basic scientists have utilized the PRF grants, cells and tissues, and database; their discoveries are published in top-notch scientific journals. The average annual number of scientific publications on Progeria since 2002 is more than 15 times that of the previous 50 years.
- PRF Translation Program: In touch with the world. With a prominent global presence, PRF eliminates barriers to communication for patients and their families around the world. This initiative has succeeded in translating PRF program and medical care materials into 20 different languages.
- Public Awareness: ProgeriaResearch.org provides access to the latest information on Progeria research and support for families. PRF’s newsletters reach over 30,000 people in 61 countries. PRF’s story has appeared on CNN, The Dr. Oz Show, Primetime, Dateline and The Today Show, in Time and People magazines, The New York Times, The Wall Street Journal and many other widely-read media outlets. PRF and its partner GlobalHealthPR also manage a global awareness campaign called Find the Other 150 , to further PRF’s efforts to find children with Progeria worldwide so they can get the unique help they need.
WHO’S WHO AT PRF?
Audrey Gordon, Esq., President and Executive Director, Co-Founder
Ms. Gordon oversees all administrative aspects of The Progeria Research Foundation, including the Board of Directors’ activities, fundraising, grant submissions, medical research projects administration, public awareness initiatives, and volunteer programs.
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 Deputy Medical Director and Senior Vice President of Chapter Programs at the March of Dimes.
Tina, Brandon, Brittany and Zach Pickard, PRF’s Ambassador Family
The family of 5-year-old Zach lives in Lexington, Kentucky, and is an integral part of PRF’s efforts to raise public awareness, involve other families in our programs, 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.
IS PRF ADVANCING THE RESEARCH TOWARD A FUTURE CURE, AND HELPING CHILDREN WITH
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?
- Make a financial contribution. Donations are needed
to continue the vital work of PRF. No
donation is too little or too big – every dollar counts in our quest for a
cure! Online donations are accepted at www.progeriaresearch.org/ways_to_donate.html
- Donate your time. Volunteers are also important to PRF’s success. Hold a special event like a bake sale or letter writing campaign; translate documents for the families; help with a mailing – we’ll find something for you to do that fits your schedule, location and talents! Visit www.progeriaresearch.org/get_involved.html to see all the ways you can help.
- Donate in-kind services or items. Do you own a printing or office supply business? Are you a computer whiz that can help with our Twitter, Facebook, web site and/or other on-line presence? Do you have a business background in non-profit development? These are just some of the many types of talents and connections PRF needs. The more tasks we can get accomplished on a pro bono basis, the more money we can devote to research!
- Spread the word and tap into your connections.Do you know anyone who can help? Tell
your friends, family and colleagues about PRF and the amazing work we’re doing!
Many times, people are more likely to donate to an organization if they’ve
gotten a recommendation from someone they know. So put in a good word for us
and tell everyone to visit our web site at www.progeriaresearch.org ,
follow us on Twitter @progeria, “like” us on
Facebook, and contact us at firstname.lastname@example.org
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 among medical professionals, parents and caretakers.
FOR IMMEDIATE RELEASE:
Contact: Megan Lustig
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