A Vision for the Future of Sight

JAX researchers are shedding light on the mechanisms of eye diseases such as glaucoma and macular degeneration, as well as Alzheimer’s and other neurodegenerative diseases – treating the eye as a window to the brain.

  • The World Health Organization estimates that approximately 39 million people worldwide are blind, and approximately 285 million are visually impaired.
  • While trauma and infection can cause impairment, most human eye diseases in developed countries are chronic disorders involving retinal neurodegeneration (loss to nerve cells found in a structure in the back of the eye, called the retina), with a genetic component.
  • Such disorders have no curative treatment, partly because when diagnosed, the neurodegeneration has progressed to an irreversible stage. 

Meeting the challenge of ocular disease

In addition to their 2018  JAX receives $1.5 million for glaucoma researchGareth Howell named Diana Davis Spencer Foundation Chair for Glaucoma Research$1.5 million gift to establish the Diana Davis Spencer Foundation Chair for Glaucoma Research at JAX, The Diana Davis Spencer Foundation has  Diana Davis Spencer Foundation pledges $4M to JAX for vision researchFunding will support scientific research and training activities in the field of neurodegenerative diseases of the eye, including graduate and postdoctoral fellowship training and research projects in glaucoma, age-related macular degeneration, and ocular signs of Alzheimer’s disease. pledged $4 million to further support vision research at the Laboratory. The gift will fund the Laboratory’s scientific research and training activities in the field of neurodegenerative diseases of the eye, including graduate and postdoctoral fellowship training and research projects in glaucoma, age-related macular degeneration (AMD) and ocular signs of Alzheimer’s disease.

The Foundation has donated an initial $2 million research grant for the study of complex ocular and neurodegenerative diseases focusing on glaucoma, AMD and dementias, and is pledging another $2 million challenge grant, which will be met by an additional $2 million in philanthropy, for a total $6 million investment into vision research at the Laboratory.Donate here to help us meet the challenge of ocular disease.

All eyes on Alzheimer’s disease research

If scientists can prove that retinal vessels in Alzheimer's decline in a similar fashion to brain cells, an eye exam could one day be used to identify those at risk of Alzheimer's disease before dementia-like symptoms develop.

The retina’s interaction with the brain makes it a good and relatively accessible platform for studying neural development. 

Gareth Howell, Ph.D.Applies genetics and genomics approaches to study age-related neurodegeneration associated with Alzheimer’s disease, dementia and glaucoma.Gareth Howell is a JAX associate professor who studies Alzheimer’s disease and holds the Diana Davis Spencer Foundation Chair for Glaucoma Research. His research has shown that there are several connections between Alzheimer's disease and glaucoma. In glaucoma, the clear fluid that flows continuously through the anterior chamber at the front of the eye doesn’t drain properly, leading to a buildup of pressure that can damage the optic nerve, leading to vision loss and blindness.

“We are looking at the eye as a window to the brain for diseases like Alzheimer's disease. We’re particularly interested in blood vessel health in the brain,” says Howell. “We hypothesize that in Alzheimer's retinal vessels may decline in a similar fashion to brain vessels. If proven, it would allow us to use retinal vessel health as a proxy for brain vessel health to identify those at risk of Alzheimer's disease before dementia-like symptoms develop.”

Shedding light on new treatments for vision

Over the past decade, JAX Professor Patsy Nishina, Ph.D.Employs mouse models of human eye disease to study gene function and mechanisms underlying disease pathology.Patsy Nishina  and colleagues have developed hundreds of mouse models for translational vision research. Her lab announced seven new models, each of which carries genetic variants previously linked to retinal developmental or degenerative ocular disease, and that are now available to the biomedical research community.

“In people, most eye diseases take many years, even decades to appear,” Nishina says. “This means you don’t know you have the genetic predisposition for the disease until you actually have the symptoms. That’s why we need mouse models: We can develop mice with the same genetic profile as patients, so we can find therapies to target the pre-symptomatic stage to prevent, delay onset or decrease severity of the disease.”

In 2017, JAX scientists   Vitamin B3 prevents glaucoma, JAX researchers findNew research shows that simply adding vitamin B3 to the drinking water of mice predisposed to glaucoma can prevent the debilitating eye disease.discovered that adding vitamin B3  to the diet of mice genetically prone to contracting glaucoma protected them from developing the retinal loss associated with blindness. 

Join the JAX challenge grant for vision research!

Help us meet our goal of raising another $2 million for vision research at JAX, which will be matched by an additional $2 million from The Diana Davis Spencer Foundation! Please help us deliver the gift of sight for all.