CLN3 is an autosomal recessive genetic disease that,
after an early period of normal development and starting at 4 years of age, can
lead to blindness, followed by intellectual decline, seizures and usually death
in the late teens to early twenties. If started early, this current invention may
provide treatment and a way to prevent the relentless progression of CLN3
disease. This is particularly important to start in pre-symptomatic younger
siblings who are at a higher risk for developing this killer disease (1/4
compared to 1/90 000 in the general population. To date, only supportive
therapies are available.
Galactosylceramide is a lipid or fat that is an important
component of lipid rafts at the cell membrane. These are hubs of activity
important for regulation of signals to the cells important in neurodegenerative
disease, cancer and inflammation. By replacing galctosylceramide in the
bloodstream, it travels to the brain, eye and other organs, decreasing the
killer fat, ceramide, hence allowing neurons and photoreceptors to survive.
The discovery of Galactosylceramide as useful in this disease comes as the
result of intensive efforts conducted by AUBMC's Chief of the Pediatric
Neurology Division and Director of Neurogenetics Program and Special Kids
Clinic Dr. Rose-Mary Boustany along with a team comprised of post-doctoral
students graduate and medical students both from Duke University and AUB. The
patent for this discovery is co-owned by Dr. Boustany, Duke University and the
American University of Beirut.
“It is every
physician-scientist's hope to develop a cure for the ills that afflict their
patients. This invention would not only prolong the patients’ lives, but
hopefully improve the quality of their lives and halt or delay progression”,
Dr. Boustany said. She explained that
part of this work was started at Duke University but continued after she moved
to the American University of Beirut Medical Center. “The Dubai Harvard
Foundation for Medical Research grant I received in 2008 was to continue work
on this proposal. The donations provided by AUBMC NGO OpenMinds have funded
this and other research projects over the last 3 years. The patent for this discovery is co-owned by
me, Duke and AUB”, Dr. Boustany added.
Dr. Boustany thanked the AUB and Duke teams for their
tremendous effort and dedication as well as the Office of Grants and Contracts
at AUB, particularly Dr. Fadia Homeidan, for their help and support with this
since early 2008. “This is a small step in the right direction with AUB
physicians and scientists producing work that will benefit all humanity”, she
added.
This latest
breakthrough is another leap forward to propel AUBMC as a regional hub for research initiatives that aim at providing
intricate information about disease trends, risk factors, and outcomes of
treatment. It is this determination and selfless concern for the well-being of
the community that drive AUBMC to provide the best patient care in the region
and the world.
