BENEFITING: CHOROIDEREMIA RESEARCH FOUNDATION
EVENT DATE: Nov 04, 2012
CHM is a rare x-linked hereditary degenerative disease that affects the retina. Most often, symptoms appear as night blindness and progressly vision deteriorates from the periphery towards complete blindness over time.
Scientists have discovered the exact location of the defective CHM gene on the X chromosome, and they say that CHM is an ideal target for gene-therapy research. Currently research is underway with funding from the Choroideremia Research Foundation and others to develop a treatment. Pre-clinical trial work is underway at the University of Pennsylvania Scheie Eye Institute under the direction of Jean Bennett, MD, PhD, and at Imperial College London under the direction of Miguel C. Seabra, MD, PhD. Ian M. MacDonald, MD, PhD, of the University of Alberta developed the genetic test for CHM and has been key in the ongoing research for a cure.
In 2009 Dr. Bennett’s work using an identical method of treatment for another genetic eye disorder, Leber’s Congenital Amaurosis, made international news and resulted in significant vision improvement for the study participants who were near or totally blind. A successful treatment for CHM is considered a stepping stone to treatments for more common genetic retinal disorders, and will advance the knowledge needed for treatment of a variety of other common genetic disorders.