A
baby who is born with cataracts or develops them in the first year of
life faces an array of challenges that dont confront an adult with the
condition, in which the lens of the eye becomes cloudy and obscures
vision.
Older cataract patients, especially in developed countries, generally
undergo a relatively routine outpatient surgery in which the clouded
lens is removed and replaced with a clear artificial lens, restoring
their vision. But for babies, whose eyes and brains are still
developing, cataract surgery is a more complicated process.
There are a lot of things to consider: What is the best age to do
surgery? What is the best lens to use? And then, for children in poor
areas, thats another level of challenge, said Salma Al Saai, a
doctoral student at the University of Delaware. So, its really
critical to find a way to prevent congenital cataracts in the first
place.
Al Saai is conducting genetic research with the hope that such
preventive measures might be possible in the future. Her work got a
boost recently with the award of a highly competitive summer scholarship
from the Fight for Sight organization, which is supporting one aspect of the project.
Her research is focused on a specific genetic mutation that causes
congenital cataracts defined as those that occur at birth or before a
babys first birthday.
A mutation in the gene she is studying has been known for some time
to cause infertility in male mice. In 2011, Salil Lachke, associate
professor of biological sciences at UD, published a paper connecting the
same gene to congenital cataracts. Other researchers have since also
identified the genes connection to cataracts.
Al Saai works in Lachkes lab, studying the way cataracts develop
in the lens when the mutated gene is present. Her summer project
supported by Fight for Sight examines a particular protein to determine
what changes in that protein cause the genetic mutation.
Im trying to understand the function of that gene, she said. This
is basic science, learning more about the lens and how it changes from
clear to cloudy.
Any intervention to prevent cataracts is probably some distance in
the future, she said, but you never know where basic science will
lead.
For Al Saai, her passion for scientific research is grounded in the
desire to help improve human health. A native of Yemen, she grew up in
the United Arab Emirates and earned her bachelors and masters degrees
there and in Oman, conducting research on malaria.
That work then brought her to the United States, where she continued
studying the disease at a research institute in Texas. Malaria, which
killed more than 400,000 people, most of them children in Africa, in
2017, is increasingly developing resistance to drug treatments.
What Im looking for is the chance to do good research that can
contribute to human health, Al Saai said. The idea that you can change
somebodys life moving them from pain to healingthats my
motivation. It inspires me.
Now in her fifth year at UD, she expects to complete her doctoral
work in the 2019-20 academic year and is also pursuing a graduate certificate in bioinformatics. After that, she plans to continue conducting research, either in academia or another setting.
Article by Ann Manser; photo by Kathy F. Atkinson
Published Aug. 2, 2019
