Once you know the gene that's responsible, you can potentially figure out the proteins that are defective and possibly treat these patients
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Once you know the gene that's responsible, you can potentially figure out the proteins that are defective and possibly treat these patients
Until you know what the defect is, you can't devise any treatment. Once you've at least identified a defective gene, you can work on potential treatments.
The implications for dogs is that we have the possibility to reduce the frequency of this mutation in the population, and in this way immediately avoid new cases of CRD caused by this mutation
For humans, the study may help in the identification of the etiology of some cases of CRD, and the dog could also be an extremely valuable model for the development of new treatment schemes for CRD [including gene therapy].
In the future, if they could use this model for gene therapy to see whether or not they can replace the gene product with a good protein that actually works in the retina, and they can restore vision in this dachshund, that would be helpful if we were to find same gene defect in humans. That would be good news; we could potentially use gene therapy in humans to restore vision
The cone cells are basically responsible for your very sharp, central vision. That's what allows you to read and see things far away and also provide you with color vision ... The rods basically provide you with your peripheral or side vision, and with your nighttime vision. At night, your cones don't work too well. Your rods are what enable you to get around in the dark.
It may not be the same mechanism in humans, but they think that it is ... This is going to lead researchers in a direction where they know what to look for.
This gene has been associated with a combination of kidney and eye disease in human patients