Why Rare Disease Research Matters

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The Progeria Research Foundation (PRF) was formed 11 years ago to find the cause, treatment, and cure for Progeria.  Progeria is a rare, fatal genetic condition characterized by an appearance of accelerated aging in children.  All children with Progeria die of heart attack or stroke by an average age of 13 years.  In 2003, the genetic mutation that causes Progeria was discovered on the Lamin A gene.

Progeria is one of the rarest known diseases. With a reported incidence of about one in 4-8 million newborns, there are only 65 known children currently living with Progeria worldwide.  When my son Sam was diagnosed 12 years ago, we turned to research and literature for more information.  There was nothing, and so, with my husband, sister, friends, colleagues, and other family members, we formed PRF to help drive research. 

Over the last 10 years, PRF has made significant strides impacting policy (PRF was instrumental in securing language in the Children’s Health Act of 2000 that mandates the National Institutes of Health to report on its plan for supporting children with Progeria); establishing research partnerships (The PRF Genetics Consortium identified the gene that causes Progeria less than 10 months after its formation in 2002); and driving the search for potential treatments and a cure (clinical trials for potential treatments are underway). 

The research over the last several years has helped us uncover a tremendous amount about Progeria and progerin, the protein caused by the genetic mutation.  At the same time, this research may help us better understand heart disease, the number one cause of death in the United States, as well as the process of aging.  As it turns out, we all produce a little bit of progerin, and the amount of progerin in our bodies increases with age.  But how much progerin does each person have and how does it differ among patient sub-populations?  Understanding more about Lamin A and progerin could lead to insights and treatments for patient sub-populations suffering from cardiovascular disease. 

That, to me, is exactly why scientific research in rare diseases is so important.  When we started our research in Progeria, we had no idea that the investigation of a disease that impacts a few children could potentially impact many. 

Now PRF is funding clinical trials and studying multiple treatment possibilities for Progeria, while continuing to examine the similarities between children with Progeria and people experiencing “normal” aging and heart disease.  I look forward to sharing the results of those studies with you in the coming months, and to continuing research that will benefit children with Progeria, as well as other sub-sets of patients. 

Stay tuned to The Age of Personalized Medicine Blog next week for an update from Audrey Gordon, the executive director of PRF, on exciting developments discussed at our recent scientific workshop, and the collaborations that have helped to advance research in Progeria from bench to bedside.

Leslie Gordon is Medical Director of the Progeria Research Foundation

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