“
MY HOPE IS THAT A BETTER
UNDERSTANDING THE GENETIC AND
MOLECULAR MECHANISMS OF SMALL EYES AND HYPEROPIA WILL POINT TO NEW
“
Lev Prasov, M.D., Ph.D., and Erika Ward, B.S., review a pedigree of a large family with nanophthalmos
THERAPEUTIC TARGETS FOR THESE DISEASES. — Lev Prasov, M.D., Ph.D.
Mapping the Genetic Landscape of Nanophthalmos Nanophthalmos is characterized by a small eye and severe
This grant will be used to catalog the genetic determinants
farsightedness (high hyperopia). The condition can lead to a
of nanophthalmos and high hyperopia, including describing
range of complications, from angle closure glaucoma to retinal
the mechanism by which MYRF disrupts RPE structure and
and choroidal detachments.
function.
How nanophthalmos develops is not completely under-
A team of mentors and collaborators led by Dr. Sally
stood. But an important piece of the puzzle was revealed in
Camper will support Dr. Prasov, providing instruction and
2019, when Kellogg physician-scientist Lev Prasov, M.D., Ph.D.
supervision in developmental and medical genetics, RPE biology,
first linked the gene myelin regulatory factor (MYRF) to familial
genomics and bioinformatics.
nanophthalmos. Using animal models, he also uncovered a role
“My hope is that a better understanding the genetic and
for MYRF in retinal pigment epithelial (RPE) development, find-
molecular mechanisms of small eyes and hyperopia will point
ing that its disruption led to retinal degeneration in mice.
to new therapeutic targets for these diseases,” he says. “The
Dr. Prasov has been awarded a Mentored Clinical Scientist Research Career Development (K-08) award from the National
findings may also shed useful light on the other end of the spectrum, namely, myopia that results from too large an eye.”
Institutes of Health to build on that work. “In a study of families with nanophthalmos, we found that known genes, including MYRF, were implicated in only
Dr. Prasov’s K-08 Mentor and Advisor Team:
20 percent of cases,” says Dr. Prasov. “But we hypothesize that
Sally Camper, Ph.D., Professor of Internal Medicine
the other 80 percent of cases may be explained by other, yet
Jun Li, Ph.D., Professor of Human Genetics
to be identified genes, that may be targets or interacting partners
David Zacks, M.D., Ph.D., Professor of Ophthalmology
of MYRF, whose primary function is to control expression of
and Visual Sciences
other genes.”
Robert B. Hufnagel, M.D., Ph.D., Director, Ophthalmic
Genomics Laboratory
K08 Award
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