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More than 20 babies are born each day into certain blindness. Some will never know their mother's smile, while others grow up with the knowledge that they will lose sight before the end of their teens. Thousands of children are born with uncorrectable vision disorders that severely impair their vision and have a devastating impact on their quality of life and ability to function 'normally' in society. The technological tools exist to attack the hereditary and environmental causes of the diseases behind these sad statistics, yet they are too expensive to apply commercially to this unheard minority. Ironically, most charitable funding for children's sight goes to the third world, where malnutrition and infectious diseases cause early blindness. The Vision of Children needs your help to raise the level of research, education, and family services that the children deserve. We invite you to make a donation to help us eradicate the major causes of blindness and uncorrectable visual impairment in children. We will apply any contribution you make to further the programs described on the following pages, and your gift is fully tax deductible. Over 80% of the funds donated go directly to fund our research, outreach, and education programs.

THE SOLUTION

Many of the causes of childhood blindness and visual impairment are inherited diseases in which faulty genetic material is passed by the mother or father to the newborn. The parents may show no effects of the disease, but the hidden defect will lead to their child's loss of vision.

As a first step toward understanding and correcting this family of genetic defects, The Vision of Children has supported genetic research to identify the part of the X-chromosome contributed by the mother that leads to Ocular Albinism (OA1). This condition is characterized by not having enough pigment in the eye. We will use the knowledge gained by this research to create models, to design corrective gene sequences with complete Ocular Albinism characteristics, and to test possible therapies.

The progress that we make on Ocular Albinism will be translated to other blinding diseases and conditions that derive from the X-chromosome, including Optic Nerve Atrophy and Retinoblastoma.

To date, researchers supported by The Vision of Children have:

  • Isolated the gene responsible for the X-linked form of Ocular Albinism
  • Determined the nature of the defect
  • Developed a mouse model with complete OA1 characteristics
  • Generated a retroviral vector carrying the OA1 cDNA and successfully infected patient melanocytes to restore the OA1 protein expression
  • Have characterized the OA1 protein as a G-protein coupled receptor (GPCR)
  • Are developing techniques to apply the knowledge to the design of a therapy

This research has led to the first universal screening test that will allow thousands of parents to know if they or their children are carriers of Ocular Albinism.

The Vision of Children Foundation
12671 High Bluff Drive, Suite 300 | San Diego, CA 92130
Phone: (858) 799-0810 | Fax: (858) 794-2348 | E: jleonard@visionofchildren.org
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