Work on congenital glaucoma genes draws prize

A researcher who identified two gene mutations that are likely causes of primary congenital glaucoma was recognized this week with the award of a research grant.

Simon W.M. John, PhD, of the Howard Hughes Medical Institute at the Jackson Laboratory in Bar Harbor, Maine, was awarded the 2004 Lewis Rudin Glaucoma Prize for “discovering a gene that may make infants more susceptible to glaucoma,” according to a press release from the New York Academy of Medicine. The prize carries with it a $50,000 research grant.

Dr. John and colleagues published their findings on the CYP1B1 gene in mice last year.

Researchers previously knew a mutation of the CYP1B1 gene was present in human primary congenital glaucoma patients. After 5 years of study, Dr. John noted that mice with the same defective gene also had defective eye-draining structures. Further, the structural damage was worse in mice with a mutation on the tyrosinase gene, according to the press release. The tyrosinase gene manufactures L-dopa, a molecule that is involved in cell behavior and plays a role in the proper development of the eyes’ drainage structure, according to the release. L-dopa is already used to treat Parkinson’s patients, the Academy noted.

Ideally, Dr. John said L-dopa or a similar drug may be able to be ingested by women of childbearing age whose offspring are at risk for this type of glaucoma.