Whole Exome Sequencing Identifies Mystery Gene in 3 year old Gavin Stevens
August 1, 2012
Gavin Stevens – age 3, was born with Leber’s Congenital Amaurosis (LCA). LCA is a rare orphan disease that affects 3,000 individuals in the country, causing complete blindness or severe visual impairment, typically at birth. Of all the retinal degenerations, LCA is the most severe, with the earliest onset.
The Stevens Family didn’t have the answer to their sons gene mutation, since he did not have one of the genes known to cause LCA. Not giving up without a fight, and with the help of Dr. Chiang, at the Casey Eye Institute in Portland, Oregon, the gene mutation was identified. The NMNAT1 gene mutation is now the 18th known gene to cause LCA.
Through the funds raised by the Gavin R Stevens Foundation, named in honor of Gavin, the hope is to bring much needed awareness and research towards this particular gene mutation. Our hope is to move to a clinical trial thanks to the remarkable researchers who work endlessly to bring vision to these children who deserve to live their life with sight!
You can read more about Gavin in a recent article by Ricki Lewis, Scientific American.
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