How did you get into retinal research?
My dad happens to be an ophthalmologist, but I didn’t know I’d follow
in his footsteps. As an undergrad,
I studied neuroscience at Harvard.
Then I went to the University of
Florida for medical school and did
my ophthalmology rotation and really enjoyed surgery and, specifically,
It was during my fellowship at the
University of Iowa, working with
Dr. Ed Stone, a pioneer in retinal
research [and a longtime FFB collaborator], that I was inspired to make
inherited retinal disease my niche.
So I joined the faculty at the University of Florida, where another
pioneer, Dr. William Hauswirth
[also an FFB collaborator], is doing
important work with gene-therapy
vectors—the delivery system that
replaces mutated, disease-causing
genes with healthy ones. After my
daughters were born, I needed time
for them, so I left UF to join a private
And you’re doing research supported by
an FFB Career Development Award?
Right, and it has shaped my career.
The grant provides me with protected time for research. While I’m also a
busy clinician, I’m working on optimizing the delivery of a gene therapy
for achromatopsia [a juvenile-onset
disease causing severe vision loss
and light-sensitivity] brought on
by a mutation in the CNBG3 gene.
I’m also a principal investigator in
a natural-history study for achromatopsia, observing progression of
the disease in patients, and helping
a company called Applied Genetics
Technology Corporation prepare for
a gene-therapy clinical trial.
How will the VISIONS sessions work?
One session, “The Doctor Is In,”
covers the basics of Stargardt
and Best diseases and cone-rod
dystrophy. We’ll talk about diagnoses
and ways of testing for those. I ask
people if they know their genetic
mutation. If not, I share how they
can get tested. We also answer audience questions and provide research
updates. The other session covers
nutrition for those diseases. We’ll
provide updates and recommendations regarding nutritional supplements.
For the “Clinical Trials” session,
we explain what the ongoing clinical
trials, or human studies, are—what’s
coming up, where they’re taking
place, who’s recruiting. Most people
want to understand what it means to
participate. One big thing we share
is, by definition, the treatment the
clinical trial is testing is not proven.
So patients in those trials are doing
an incredible service to research, so
that we can learn if treatments are
safe and effective.
What would you tell someone who hasn’t
attended a VISIONS conference before?
I think it’s life-changing. It’s great
for researchers, who catch up with
colleagues and meet renowned
researchers they’ve only heard about
before. And every patient I talk to
loves the conference. They establish
relationships and meet with friends. I
can’t think of a better way for people
affected by retinal diseases to have
the opportunity to interact with
researchers and doctors and learn
about cutting-edge updates. At the
same time, they network with people
who have very similar diagnoses and
A Life-Changing Event (continued from page 1)
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