Bassem Bejjani MD, FACMGBassem Bejjani MD, FACMGThe cause of keratoconus (KC) may be unknown, but its results certainly are: a thinning and bulging of the cornea that results in distorted vision and decreased visual acuity.
A progressive and sometimes painful condition, doctors currently treat KC
with hard lenses that reshape the cornea, but this treatment does not always
succeed. The only other remedy, once the condition has progressed, is a corneal
transplant. More than 40,000 transplants are performed every year in the
because of KC.
But Dr. Bassem Bejjani, a geneticist and research professor at WSU Spokane, is approaching KC from a different angle. Bejjani became interested in the possibility that KC might be a congenital disorder during a trip to Ecuador to collect samples for his work on congenital glaucoma.
In Ecuador, Bejjani heard about nearly three dozen families with KC,
suggesting the likelihood of a genetic component. With his colleague from Baylor
College of Medicine in Houston, Richard A. Lewis, Bejjani collected samples from
some of these families and submitted a proposal to the NIH—with the result of
$1.3 million in funding, over four years.
The funding will support mapping of the genes in an effort to find a genetic
link. Bejjani will conduct a genome-wide screen in which he examines the genome
of each one of the people in these families.
He will look for similarities among those who have the condition, comparing
their DNA with that of their unaffected siblings, to decide on candidate regions
of the genome that have one or more genes for KC. The work will be performed by
the research team he has already assembled for his other funded investigations.
No one really knows the cause of KC. Identification of a genetic component would
help narrow down the possibilities and could perhaps lead to the development of
non-surgical interventions such as eye drops or other therapies that could help
treat the condition.