Doctor who helped identify all human DNA honored
March 29, 2010

     One of the doctors who unlocked the human genome, making it easier to identify and study the genes associated with Progeria and other genetic conditions is a recipient of the Albany Medical Center Prize in Medicine and Biomedical Research.

Photo Courtesy genome.gov

     Francis S. Collins, M.D., Ph.D. is the director of the National Institute of Health.  Collins will be recognized along with the others chosen for the prize on April 23 at the Albany Medical Center in Albany, N.Y.

     The Human Genome Project identified the approximately 20-25,000 genes and identified the sequence of 3 billion chemical pairs that make up human DNA.  The information was immediately available online to researchers and will be used to ensure a quick as possible route for researchers in medicine.

     Collins declined his portion of the $500,000 prize that would have been awarded in order to comply with ethical rules. 

     Other recipients of the prize are Eric Lander, Ph.D. and David Botstein, Ph.D.

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Purpose
January 25, 2010

        Hutchinson-Gilford Progeria Syndrome, or Progeria, is a rare, genetic condition that appears in children as the effects of accelerated aging. Progeria is caused by a mutation of the gene LMNA.  Prior to April, 2003, the cause of Progeria was unknown. Children with Progeria die at an average age of thirteen to heart disease.  Progeria was first described in the late 1800’s by Dr. Jonathan Hutchinson and Dr. Hastings Gilford.

       A cure for any ailment can only come about through extensive efforts and studies.  Funding for these studies is extremely costly.  For this reason, education is key to finding a cure for these children.  A cure for Progeria will likely also help millions of adults who suffer from heart disease and stroke as part of a natural aging process. 

       The Progeria Research Foundation is located in Peabody, MA.  They have now located 54 children in 30 countries living with Progeria.   However, researchers believe there are statistically another 150 children living undiagnosed, or not identified by the Foundation, with Progeria in the world.  I have seen their volunteers work first hand at raising money and spending their time working to raise money to cure Progeria.