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Why is the decoding of the human genome important in finding a cure for glaucoma?
Having the full set of genes present in the human genome has enabled many experiments that otherwise would not be possible. For example, it has allowed us to obtain a very complete snapshot of which genes are changing in models of glaucoma. We can then begin to test which genes are involved in the disease. The genome information is also invaluable for groups investigating the genes responsible for hereditary forms of glaucoma.
Determining causation is very difficult in science. We have been looking for genes that will give us some clue about how the retina is changing as glaucoma progresses. We have identified specific gene expression changes that we think are associated with glaucoma, and are now trying to understand what role these genes play in the disease. We are optimistic that such understanding will lead to the rational design of therapies for glaucoma.
Some forms of glaucoma are inherited, and multiple scientific groups are investigating the genes responsible. But in many cases glaucoma is not inherited and the factors leading to disease onset are not well under-stood; although increased intraocular pressure (IOP) is a well-known significant risk factor. However, even when glaucoma is not inherited, an increased risk to develop the disease may be inherited. Scientists are seeking to identify genes that may cause an increased risk of developing glaucoma. If successful, it may lead the way to therapies for all who suffer from glaucoma.
Right now, the best approach to preventing vision loss is to manage intraocular pressure, although this does not work in all cases. The hope is that future therapies based upon current research will prevent loss of neurons directly and thus maintain vision.
In the retina, neurons are not regenerated once they are lost. However, many labs are working on ways to develop strategies for replacing lost retinal neurons; if successful, these strategies could one day be applied to various retinal degenerative diseases, including glaucoma.
The Catalyst For a Cure (CFC1) researchers are: David Calkins, PhD (Vanderbilt University), Philip Horner, PhD (University of Washington), Nicholas Marsh-Armstrong, PhD (Johns Hopkins University), and Monica Vetter, PhD (University of Utah).
Last reviewed on May 11, 2021