The Progeria Research Foundation, Inc. (PRF) was founded in March 1999 by the family, friends and colleagues of Sam, a Massachusetts child afflicted with Progeria. Progeria is a fatal, “premature aging” disease that afflicts children, who die of heart disease at an average age of 13 years.

MISSION: To discover the cure and effective treatment for Progeria and its aging related disorders.

• Discover the cure
• Develop treatment
• Provide information and guidance
• Be a valuable resource for Progeria families

The governance of the corporation is vested in a national Board of Directors which serves without compensation and meets quarterly. There is also a volunteer Medical Director and corporate officers. Volunteer committees (public awareness, medical research, special events and fundraising committees) meet as needed. Staff includes a full-time Executive Director, a part-time Executive Assistant and a part-time Administrative Assistant.

PRF is the only organization in the world solely dedicated to finding a cure for Progeria. We have progressed rapidly by discovering the Progeria gene and most recently finding a potential drug treatment, all in just 7 years – a pace virtually unheard of in the scientific community! And finding a cure will help not only those with Progeria, but perhaps also the millions of people who suffer from heart disease and other, aging-related conditions.

PRF’S ACCOMPLISHMENTS

In less than 7 years, PRF has created a comprehensive network of research-related needs to promote advances in the field, for all children diagnosed with Progeria from all over the world. PRF has centralized all of the resources needed to propel forward as quickly as possible towards treatments and cure, firmly establishing itself as an international force driving Progeria research and education. The following PRF activities have played and are playing key roles in Progeria research:

• Discovery of the Progeria Gene: PRF was instrumental in this historic, 2003 accomplishment! Members of PRF’s Genetics Consortium collaborated, and cell lines from PRF’s Cell Bank were essential to the experiments that led to the discovery - a critical step in the ultimate quest for a cure. The gene discovery literally flung open the doors of science, and all of our programs have grown, as the number of potential patients coming to PRF for diagnosis and treatment, and the number of scientists interested in Progeria research, rises - all because of our accomplishments and outreach efforts.
• Diagnostics Testing Program: PRF created this project in the wake of the gene discovery so that children, their families and medical caretakers can for the first time be given 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. In addition, because this definitive diagnostic testing prevents misdiagnosis, it ensures that scientists are working with the proper cells and tissues, as they ask questions about Progeria, heart disease and aging.
• First-Ever Progeria Clinical Drug Trial for Progeria: PRF is funding and co-coordinating the first-ever clinical drug trial for Progeria, taking place at Children’s Hospital Boston. The trial drug is called a farnesyltransferase inhibitor, or FTI, a drug that has shown great promise in the laboratory and in animal models. The trial began on May 7, 2007 and is expected to last for 2 ½ years. To date PRF has raised 1.65 million of the 2 million dollars needed to fund this trial.
• Cell & Tissue Bank critical for research to occur: The Bank provides medical researchers with genetic and biological material from Progeria patients and their families, so that research on Progeria and other aging-related diseases can be performed. Presently, PRF has collected an impressive 67 cell lines from affected children worldwide (with ages ranging from 8 months to 17 years), and 40 lines from their immediate relatives. With only 46 children living with Progeria in the world today, we’ve been hard at work with the families and their physicians to gather these precious biological materials.
• Medical & Research Database: Medical records of Progeria patients are collected, and the data is rigorously analyzed to determine the best course of treatments to improve the patient’s quality of life. This information is invaluable for the attending physician to guide the family through the best course of action. To date, PRF has enrolled 70 children in the program, and published three formal healthcare recommendations: Cardiac Care, Nutrition, and Occupational Therapy/Physical Therapy. The database was critical in determining the primary clinical outcome parameter for the first-ever clinical drug trial for Progeria.
• Scientific Workshops on Progeria: PRF has organized five successful scientific conferences that have brought together scientists and clinicians from all over the world to collaborate, sharing their ideas and contributing their expertise in this lethal disease. The most recent workshop took place in Boston, MA in November, 2007, bringing nearly 100 scientists from 11 countries and sixteen states together for the largest conference gathering to date.
• Research Grants: PRF has awarded 23 research grants totaling $1.5 million through peer review by our volunteer Medical Research Committee. Awards of up to $100,000, for up to two years, have allowed innovative new research in Progeria to thrive.
• Publication of Scientific Papers: A major goal of PRF is to promote awareness about Progeria and the progress being made in the field of Progeria research. Dozens of publications on Progeria, many of which acknowledge PRF grant support or PRF’s support of providing cells, have been published in well-known, respected scientific journals read by thousands of researchers worldwide. Since 2002, over 60 scientific publications have appeared, compared to less than 2 per year for the previous 50 years.
• Web Site/Public Awareness: ProgeriaResearch.org provides visitors with access to the latest information on Progeria research, support, and education for families and caregivers. PRF’s Web site enjoys an average of approximately 15,000 visitors per month, and PRF’s newsletters reach 10,000 people in 49 countries. Since the gene discovery, PRF’s story has appeared on CNN, Primetime Live, Dateline, The Today Show, in Time magazine, People magazine and The New York Times, and dozens of other media outlets that have a keen interest in Progeria and PRF’s work. In the summer of 2006, PRF kicked off a national public awareness campaign featuring the voices of Ted Danson and Mary Steenburgen. The PSA was endorsed by the Advertising Council, and aired on the Astrovision in Times Square in November 2006. In January 2007, PRF and the Progeria Clinical Drug Trial were featured on the front page of The Wall Street Journal, reaching millions of readers worldwide.
• Volunteer Expansion: Thousands have joined in PRF’s fight for a cure in many ways, from participating in fundraisers, to translating information for the non-English speaking families, to stuffing envelopes! The Miracle Makers section of PRF’s newsletters and web site pay tribute to these “heroes” who selflessly give their time & talents to raise money and awareness for PRF. In 2005, we created our first chapter, in Southern California, and five more have been formed.
• Progeria Family Outreach-The PRF Progeria Family Message Board and Chat Room: In keeping with our mission of continuing to provide valuable resources for families of children with Progeria, PRF has created a private message board web site for them. This on-line tool helps them get to know each other, and develop a support network of people with whom they can share concerns and ideas on how best to care for their children. Parents can also ask questions and receive answers to medical issues from Dr. Leslie Gordon, PRF’s Medical Director. The message board is free and confidential.