Other ways to search: Events Calendar | UTHSC

Dr. Alessandro Iannaccone Invited to Join the Scientific Advisory Board of the Choroideremia Research Foundation


Alessandro Iannaccone, MD, MS, director of the Retinal Degenerations and Ophthalmic Genetics Service and Associate Professor of Ophthalmology at the Hamilton Eye Institute of the University of Tennessee Health Science Center (UTHSC), was recently invited to become one of the founding members of the first Scientific Advisory Board of the Choroideremia Research Foundation.

The Choroideremia Research Foundation is based out of Springfield, MA. Dr. Chris Moen, MD, president of the Choroideremia Research Foundation, selected for this prestigious invitation only nine world-wide experts in choroideremia. Dr. Moen brings a unique perspective to the Scientific Advisory Board, being both a physician who conducted research on choroideremia himself, and as a patient affected with this rare condition. “I am deeply honored by having been chosen to serve as one of the few founding members of the first Scientific Advisory Board of the Choroideremia Research Foundation by Dr. Moen,” stated Dr. Iannaccone.

Choroideremia is a rare X-linked degenerative disorder of the retina, retinal pigment epithelium and choroid that is estimated to affect about one in 50,000 people. With exceedingly rare exceptions, only males are affected with this condition. While disease expression can be variable, choroideremia is a progressive disease that can lead to severe vision loss and blindness.

The first results of a gene therapy trial for choroideremia have been recently published, with some cautiously encouraging results, but a lot of work remains to be done. “A key problem with this unique disorder is that, unlike other retinal degenerative diseases, choroideremia is characterized by severe and at times fairly early-onset loss of the retinal pigment epithelium (RPE) and the choriocapillaris, the two layers that lie underneath the retina and are essential to nourish the retina and keep it healthy. So, a major challenge to treating choroideremia is that once these layers are severely compromised, if gene therapy is delivered only to photoreceptor cells, one runs the risk of not being as effective as one would hope, unless treatment is implemented early enough, before so much of the RPE and choriocapillaris are gone,” commented Dr. Iannaccone in a recent interview with ClearView Healthcare Partners about treatment perspectives for choroideremia. “There are also partially conflicting positions as to whether choroideremia is a primary disease of the photoreceptors or of the RPE. There is data in favor of both, although based on the data others and we have, the latter appears to be at least central to the disease. Thus, gene therapy aimed at delivering the gene in the RPE as well as photoreceptors may have better chances yet to succeed – again, provided that treatment is implemented early enough. In later stages of the disease, pharmacological strategies that can compensate for the loss of the RPE and/or RPE transplantation are also likely to be very helpful to patients with choroideremia. Last but not least, the vast majority of the choroideremia patients experience disease as the result of mutations in the CHM1 gene that mislead the cells to stop making the resulting protein, called REP-1, too soon, yielding a truncated, dysfunctional protein. This genetic peculiarity offers mutation-specific treatment opportunities as well. These approaches may ultimately need to be used in combination to achieve optimal treatment of patients with choroideremia,”  Dr. Iannaccone said.

More information about choroideremia and the Choroideremia Research Foundation can be found at: www.choroideremia.org