The model for this disease, called Leber congenital amaurosis (LCA), is especially important because no treatments are currently available to prevent it. There are not enough patients to enroll in large clinical trials to test new prevention treatments; therefore, any potential new therapy must have a high probability of working. This is especially the case with LCA. Diseases with such a limited patient population discourage the expensive commercial research and development needed to find an effective treatment for it, according to Michael A. Dyer, Ph.D., assistant member of St. Jude Developmental Neurobiology. Dyer is first author of the MBR report. The investigators are now using the model to develop a gene therapy to prevent this form of blindness.
"The development of this model reflects an important goal at St. Jude of finding cures for rare devastating childhood diseases beyond cancer," Dyer said.
The LCA mice lack both copies of a gene called AIPL1, which is essential for the final development of light-sensitive cells in the retina called rods and cones. Rods are responsible for vision in low light and cones are responsible for color vision. LCA, which occurs in about one in 100,000 births, causes rods and cones to degenerate.
The researchers previously reported a potential role of the AIPL1 gene in rod and cone formation. However, the St. Jude-Columbia team demonstrated the link between the absence of AIPL1 during fetus development and the loss of vision that occurs shortly after birth. Based on this work, th
Contact: Bonnie Cameron
St. Jude Children's Research Hospital