Rare Disease Day 2010
March 3, 2010

Sunday February 28, 2010 was World Rare Disease Day.  The purpose of the day was to spread the word about the need to research rare diseases.  The National Organization for Rare Disorders headed the third annual event.  NORD’s mission is to identify, treat and cure rare diseases through various programs.

Information about rare diseases is limited; making diagnoses difficult and families often face a lack of research or resources.   Rare diseases often have no cures.  However, there are between 6 and 8 thousand known rare diseases with 75% of these affecting children (rarediseaseday.org).

Congress passed the Orphan Drug Act of 1983 to encourage the development of drugs for rare diseases.  A rare disease is one that affects fewer than 200,000 people in the United States.  Prior to the passage of this Act, private industries were hesitant to invest in treatments because the drugs were expected to be unprofitable.  To find out more about the benefits of this Act you can visit the review by the Department of Health and Human Services.

Finding a treatment or cure for rare diseases often leads to advances in more common diseases and disorders.  Dr. Leslie Gordon, Medical Director for the Progeria Research Foundation said, “Helping children with Progeria, with this rare and fatal disease, also helps us understand the biology of aging in all of us” (Findtheother150.org).

On Rare Disease Day 2010, Boston Children’s Hospital hung a sixty foot chain with the names of 350 rare diseases. Audrey Gordon, President and Executive Director of the Progeria Research Foundation explains why rare disease studies are so important:

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PRF President and Executive Director Audrey Gordon
February 16, 2010

     Audrey Gordon is the President and Executive Director of the Progeria Research Foundation.   Audrey was named one of the 2004 North of Boston Business and Professional Women of the Year.  She is the front runner of countless efforts to fulfill PRF’s mission of finding a treatment and cure for Progeria. I asked Audrey where she got the inspiration to start the foundation:

Progeria Research Foundation Inspiration – Watch more Videos at Vodpod.

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.