{"id":28,"date":"2016-05-26T06:40:29","date_gmt":"2016-05-26T06:40:29","guid":{"rendered":"http:\/\/www.mvisionlab.com\/?page_id=28"},"modified":"2017-03-13T19:34:47","modified_gmt":"2017-03-14T02:34:47","slug":"lca-gene-discovery","status":"publish","type":"page","link":"https:\/\/www.molecularvisionlab.com\/lca-gene-discovery\/","title":{"rendered":"Testimonials"},"content":{"rendered":"

A New LCA\u00a0Gene Linked to Severe Childhood Blindness<\/h1>\n
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For nearly three years, Troy and Jennifer Stevens struggled to learn the identity of the gene responsible for their son Gavin\u2019s blindness.\u00a0 Although doctors were able to diagnose him with Leber congenital amaurosis \u2013 a rare form of inherited childhood blindness \u2013 the first round of genetic testing could not pinpoint the defective gene.<\/p>\n

But thanks to the determined efforts of genetics expert John Chiang, Ph.D. (then at Casey Eye Institute), and Troy and Jennifer\u2019s tenacity, a new gene linked to Gavin\u2019s severe form of LCA has been discovered using a new, sophisticated approach called whole-exome sequencing.\u00a0 Dr. Chiang, then the director of Casey\u2019s Molecular Diagnostic Laboratory along with collaborators at Beijing Genomics Institute (BGI) published their findings in the medical journal Nature Genetics<\/a>in July.<\/p>\n

\u201cUncovering this gene has expanded our understanding of the pathway of retinal diseases like LCA and will help the advancement of gene therapy treatment for Gavin and other patients with this genetic mutation,\u201d notes Dr. Chiang, who joined Casey\u2019s faculty in June of 2011.\u00a0 The gene, identified as NMNAT1, is the 18th linked to LCA, but different than most others in terms of its function and location.\u00a0 \u201cIt\u2019s a very important gene on chromosome 1, but you only see its effects in the eye,\u201d he points out.<\/p>\n

\"Gavin\"Jennifer says it was a \u201cmother\u2019s intuition\u201d that sensed something was wrong with her son\u2019s eyesight soon after he was born. After extensive testing and visits with eye specialists, the family was devastated to learn that Gavin, now three, had all the signs of a severe form of LCA.<\/p>\n

Later, while researching the disease, she learned about a young boy with LCA who regained some vision with gene therapy.\u00a0 Realizing that the first step for gene therapy treatment is identifying the gene mutation, the Stevens sent Gavin\u2019s blood samples to a genetic testing laboratory when he was 14-months old.\u00a0 \u201cWe wanted to make things happen,\u201d says Jennifer, who lives in Chino, California with her husband Troy, Gavin and his older brother Landon.<\/p>\n

Nearly a year later, while attending a conference for families with LCA, the Stevens got the disappointing news that test results were inconclusive. \u201cWe were so desperate for an answer and thought, \u2018we have to find someone else,\u2019 Jennifer recalls.\u00a0 Other families at the conference suggested she contact Dr. Chiang, who at that time was at the University of Colorado in Denver.<\/p>\n

\u201cI emailed him that evening in our hotel room and he responded immediately, agreeing to help as much as he could,\u201d she says.\u00a0 Within a week, Gavin\u2019s blood samples were sent to Dr. Chiang, who analyzed his DNA for all genes known to be associated with LCA.\u00a0 When that search came up empty, he recommended whole-exome sequencing, which uses cutting-edge technology to analyze the entire protein-coding regions of the DNA, including known and unknown disease genes.<\/p>\n

The family agreed to take this next step and Gavin\u2019s blood work was sent on to BGI for whole-exome sequencing.\u00a0 After months of meticulous data analysis, Dr. Chiang and his team were able to narrow their search to NMNAT1, which previously had not been associated with blindness.\u00a0 Ten other patients subsequently were also found to have the gene variant, which was also found by three other research groups.<\/p>\n

Soon after attending this year\u2019s LCA family conference this past summer, Dr. Chiang called Gavin\u2019s parents to tell them their son\u2019s gene defect had been verified.<\/p>\n

\u201cWe had been waiting for the day to get this information,\u201d says Jennifer, who has established a foundation in Gavin\u2019s name to raise awareness for LCA and support research.<\/p>\n

\u201cI have no words to express my gratitude for Dr. Chiang, he\u2019s absolutely amazing,\u201d says Jennifer, describing her family\u2019s experience during this effort.<\/p>\n

\u201cHe never made us feel like a test tube.\u00a0 He\u2019s always treated us as parents, going out of his way to clarify everything, give us updates and explain things,\u201d she adds.<\/p>\n

Now that Gavin\u2019s gene has been isolated, the Stevens are hopeful that a cure will be available in his lifetime.\u00a0 \u201cWe want to raise awareness about Gavin\u2019s condition to help other children as well.\u00a0 With this discovery, we hope other families will be getting that phone call.\u00a0 We know what that phone call meant to us.\u201d<\/p>\n

Read more about Gavin and his family’s efforts to find a cure for LCA by visiting: www.gavinsfoundation.org<\/a><\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"

A New LCA\u00a0Gene Linked to Severe Childhood Blindness For nearly three years, Troy and Jennifer Stevens struggled to learn the identity of the gene responsible for their son Gavin\u2019s blindness.\u00a0 Although doctors were able to diagnose him with Leber congenital amaurosis \u2013 a rare form of inherited childhood blindness \u2013 the first round of genetic
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