Northwestern Medicine makes breakthrough discovery in glaucoma research

In healthcare news Illinois updates, Northwestern Medicine and University of Wisconsin-Madison (UW) scientists made a discovery that could revolutionize the way severe glaucoma in children is being treated.

Primary congenital or infantile glaucoma is an extremely rare disease that affects 1 out of 10,000 children. In more than 10 percent of cases, patients go blind. Treatments include medication and surgery, both with low rates of success.

There are a handful of conditions which can be associated with childhood glaucoma such as Axenfeld-Reiger Syndome or Sturge-Weber Syndrome. Children who previously underwent cataract surgery have higher risk of developing glaucoma.

After a two-year-long journey, researchers have identified a gene called TEK, that causes this disease. “This work shows us how a genetic mutation causes a severe form of glaucoma called primary congenital glaucoma, which afflicts a significant portion of children enrolled in institutions for the blind worldwide,” said principal investigator Susan Quaggin, chief of nephrology and hypertension at the Northwestern University Feinberg School of Medicine.

TEK plays a key role in the development of a eye vessel called Schlemm’s canal, which drains fluid from the anterior portion of the eye. When the Schlemm’s canal is defective, fluid builds up creating pressure and damaging the optic nerve, which causes glaucoma.

Two years ago, Quaggin and her team found that deleting the TEK gene in mice causes them to develop glaucoma. Inspired by their breakthrough, international ophthalmologists and geneticists identified more mutations in this gene in children with this form of glaucoma.

“It was one of those eureka moments that sometimes happens in science,” Quaggin said.

Until now, however, experts didn’t know how humans might be affected by this mutation. Quaggin’s colleagues found a total of 10 TEK mutations in 10 families with children suffering from primary congenital glaucoma.

Other Northwestern researchers are also working on finding a safer remedy for breast cancer. They are currently recruiting patients for the clinical trial of  Tamoxifen gel, which is designed to treat breast cancer with little to no side effects.

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