Mäkeläinen et al. PLoS Genet. 15, e1007873 (2019)
Approximately 1 in 8,000–10,000 people are affected by Stargardt disease (STGD), an autosomal recessive retinal degenerative disease leading to visual impairment. STGD is caused by mutations in the ABCA4 gene, which encodes a membrane transporter protein expressed by photoreceptors. No treatment exists and only mouse models are available to study the disease. For over a decade, researchers have been trying to identify a canine model because unlike mice, dogs have a macula, the part of the retina primarily affected in patients with STGD.
Recently, whole-genome sequencing performed on a family quartet of dogs—two offspring showing clinical signs similar to human STGD and their unaffected parents—led to the identification of a loss-of-function mutation in the ABCA4 gene, which could be used to develop a large animal model for human STGD.
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Le Bras, A. A new model for Stargardt disease?. Lab Anim 48, 138 (2019). https://doi.org/10.1038/s41684-019-0298-6
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DOI: https://doi.org/10.1038/s41684-019-0298-6