Brief summaries relevant to choroideremia research initiatives

(Note FFB Visions 2013 recordings will be linked when available on FFB website - expected availability in 8/2013)
7/16/2013 Visions 2013 videos available including an interview of Mr. and Ms. Purvis, parents of Todd and Justin of Driving Blind fame.
Audio links will be active when FFB makes available 8/2013.

First Generation Gene (and other treatment) Rollout:


Pharmaceutical and Neuroprotective Therapy and Research:

Gene Therapy Enhancements - Improved viral and non-viral vectors and DNA manipulation:

  • Text (no video found yet) about Dr. David Schaffer of the University of California Berkely work on developing evolved novel AAV for intravitreal delivery:
Using mouse eyes as a setting for directed evolution, scientists have created a new version of the gene therapy vector adeno-associated virus (AAV) that can deliver genes deep into the retina, according to a paper published online today (June 12) in Science Translational Medicine. Such a vector could improve therapeutic gene delivery to target cells and lead to safer and less invasive gene therapy treatments.

“This is a beautifully planned, executed, and powerfully presented paper,” said Jean Bennett, a professor of ophthalmology at the University of Pennsylvania in Philadelphia, who was not involved in the study. “It shows the results of a very clever system to evolve AAV to target cells in the retina efficiently from an intravitreal injection.”
Intravitreal injection, whereby a needle is pushed into the eye’s vitreous, or gel-like core, is a common drug delivery procedure performed under local anesthetic in a doctor’s office, explained Bennett. But using this routine injection technique in trials of gene therapy for retinal degeneration has thus far proven impossible.
The problem, explained David Schaffer, a professor of chemical and biomolecular engineering, bioengineering, and neuroscience at the University of California, Berkeley, who led the research, is that current AAV vectors are incapable of penetrating deep into the retina where the target cells for retinal diseases are located.

Stem Cell Research for Retinal Replacement, Regeneration and Repair:

Optogenetics and Cell Reprogramming:

Retinal Prosthesis Research and Devices:

Consortium for Collaborative Research:


Databases and Biobanks