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Shortly after Alan Brint was born in 1997, his parents David and Betsy realized that his vision was not right. They were devastated to learn from retinal experts that young Alan was nearly blind because of a genetic disease called Leber congenital amaurosis (LCA). “It’s every parents’ worst nightmare,” says David, “to find out that something is tremendously wrong with your child. Blindness never even occured to us until the doctor said, “Your child is blind and there is nothing we can do at this time.”
The Brints got involved with the Foundation Fighting Blindness to find a treatment or cure for Alan and millions of other children and adults affected by vision-robbing retinal degenerative diseases. David has been the Vice President of the Foundation’s Board of Directors since 2005 and is Co-Chair oftheir Science Committee.
The Brints recently received some great news about the prospects for Alan’s vision. An international team of Foundation-funded researchers found a variation in a gene called LCA5 that is responsible for Alan’s vision loss. The breakthrough brings experts closer to developing a gene therapy that may restore Alan’s eyesight.
“It was a wonderful moment when we learned they had found Alan’s gene. I hadn’t cried up until that moment when the doctors told us they had it,” says David. “We are so thankful to the researchers who made the breakthrough. Given all of the great work going on in gene therapy, we aren’t on the sidelines anymore, we are in the game. This special group of scientists will ultimately win the game when Alan looks them in the eye and says thank you.”
The LCA5 finding was published in the journal Nature Genetics (June 3, 2007). The team of investigators behind the advancement includes: Anneke den Hollander, Ph.D., Ronald Roepman, Ph.D., and Frans Cremers, Ph.D., from the Radboud University Nijmegen Medical Centre (Netherlands); Robert Koenekoop, M.D., Ph.D., McGill University (Montreal, Canada); and Chris Inglehearn, Ph.D., University of Leeds (United Kingdom).
A Foundation-funded research team at the University of London is currently conducting a human study of gene therapy to treat LCA caused by a different gene called RPE65. Success with that pivotal clinical trial will likely lead to advancements of gene therapy for LCA caused by LCA5 and other genes.
“For the past 15 years, the Foundation has supported all of the research — the genetic findings, the preclinical studies, and the human trials — that has led to this promising point in time,” says Stephen Rose, Ph.D., Chief Research Officer, Foundation Fighting Blindness. “In 2001, when researchers used gene therapy to give sight to Lancelot, a Briard dog with LCA caused by RPE65, we were very encouraged. However, these human studies are the most critical juncture for getting a treatment out to kids like Alan Brint.”
LCA is a retinal degenerative disease that causes children to be born blind or with severe vision loss. Over the past 15 years, reseachers have identified most of the genes that cause LCA.
DISCLAIMER: Physicians differ in their approach to incorporating research results into their clinical practice. You should always consult with and be guided by your Physician’s advice when considering treatment based on research results.
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