Unlocking The Mystery
Grants help researchers discover new clues to curing glaucoma
Dr. Mansoor Sarfarazi and the team of researchers at the
Molecular Ophthalmic Genetics Laboratory, University
of Connecticut Health Center, have uncovered a few
buried treasures in the 30-plus years since Sarfarazi
first embarked on the long and tedious search for the
genes that cause various forms of glaucoma – a group
of diseases that damage the optic nerve, causing vision
problems and blindness for millions worldwide.
Scientists suspected a genetic cause for glaucoma as far
back as the 1960s, Dr. Sarfarazi said. But when he began
work on the subject in the 1980s, it was still uncharted
territory. By the late 1990s, he and his team had identified
the first glaucoma-causing gene mutation, through the
study of a Scottish family affected with the disease over
seven generations. Since then, Dr. Sarfarazi and his team
have linked four more gene mutations to glaucoma,
which continues to be a leading cause of blindness.
For the past three years, Eversight Connecticut has been
a proud financial supporter of Dr. Sarfarazi’s ongoing
research.
“Dr. Sarfarazi’s work to isolate and identify genetic
molecular changes in glaucoma patients is the initial step
in being able to effectively treat and potentially cure this
disease,” said Ryan Cady, Executive Director, Eversight
Connecticut.
In fact, Dr. Sarfarazi’s work already is saving people from
the sight-stealing effects of glaucoma. Genetic testing
can identify certain types of glaucoma even before birth,
allowing doctors to slow or even stop the disease through
medical intervention. Others can find out whether they
carry a family’s gene mutation, and whether they can
expect to develop glaucoma in the future.
Dr. Sarfarazi hopes his research will eventually lead to
the development of a simple, routine blood test to
identify all types of glaucoma.
Dr. Mansoor Sarfarazi (right) with research
partner Dr. Roshanak Sharafieh.
“It’s extremely important to us. Being funded by
Eversight for the last three years has enabled us to
do quite a lot of research. There’s no doubt there
are many more genes out there.”
Dr. Sharafieh said the team’s research would not be
possible without the cooperation and participation
of families who are affected by glaucoma. That is why
she, Dr. Sarfarazi, and the rest of the research team
are pushing forward to find the next piece of the
glaucoma puzzle.
“We owe it to these families. They deserve answers,”
she said.
Dr. Sarfarazi said funding such as that provided by
Eversight Connecticut is vital to the continued
success of his work.
Dr. Roshanak Sharafieh is among the many who could
benefit from such a test. A member of Dr. Sarfarazi’s
research team for the last 12 years, she was drawn to the
topic through her own mother’s battle with glaucoma.
Spring 2016 | V I S I O N | Page 5