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20.11.2013
Last weekend, I had the privilege of presenting at the third annual Usher Syndrome Family Conference in St. The day-to-day challenges they go through with children who have combined vision and hearing loss really brought home to me the urgency with which the Foundation Fighting Blindness must put forth to help these families and their loved ones. Interestingly, I learned from listening to the families that a number of affected children were of Chinese descent and had been adopted as infants. I happen to be going to China in August where I’ll meet with retinal specialists, including Dr. What we learn, clinically and genetically, about Usher syndrome and other retinal diseases in China may be of great benefit to those affected in the West — and vice versa. In presenting research updates to attendees of the Usher Family Conference, I was joined by Dr. I addition, I discussed advances in gene therapy, including the UshStat® gene therapy clinical trial for Usher 1B underway and enrolling patients at Oregon Health & Science University. My presentation included an overview of an emerging nanoparticle-based gene therapy for Usher syndrome 2A (USH2A). While adeno-associated viruses (AAVs) and Oxford BioMedica’s lentiviral systems are performing well in clinical trials and labs, they are limited in their delivery capacity. Stay tuned for additional reports from my “European Tour,” which includes stops in Amsterdam, Germany and France.


This entry is filed under FFB on the Road, Gene Therapy, Pharmaceuticals, Research, Usher syndrome and tagged gene therapy, usher syndrome, visions. Is the presentation on emerging nanoparticle-based gene therapy for Usher syndrome 2A published publicly anywhere?
Ben ShabermanAs the Foundation's Director, Science Communica- tions, Ben writes science and research articles for the Foundation’s website, newsletters and Eye on the Cure blog. Rich SheaAs the Foundation's Associate Director, Communica- tions & Marketing, Rich writes and edits content for all of the Foundation’s print and online publications, including its blog, Eye on the Cure. Want to hear from the Foundation?The Foundation Fighting Blindness provides valuable disease information, research updates, low vision resources, and networking opportunities to help you stay informed. Medical Disclaimer:The information contained on the Foundation Fighting Blindness web site and other online properties including Eye on the Cure is provided for your general information only.
The conference drew 120 families from across the country, and the courage and tenacity of each and every one of them was very inspiring for me. Because these children were profoundly deaf when adopted, and are now losing their vision very quickly, it appears to me that they have Usher syndrome type 1, the most severe form.
Ruifang Sui, of the Beijing Eye Hospital, who is the recipient of an FFB Career Development Award. The more affected people we can identify and study, the better we can understand the diseases and how to overcome them.


I also told the group about very promising emerging drugs for Usher 1C — and potentially other forms of Usher syndrome and retinal diseases — which read through genetic mistakes.
A key advantage of nanoparticles is that they can carry larger genes, like the USH2A gene, which viral-based gene delivery systems can’t deliver. Steve RoseSteve is highly respected for his expertise and tireless commitment to finding treatments and cures for vision-robbing retinal diseases. And while updating the attendees on the latest research was fulfilling, listening to the parents’ panel talk about how Usher syndrome has affected their families was quite moving. Researchers are currently using the Usher 1C mouse model to test these potential therapies before they are studied in humans. Physicians differ in their approach to incorporating research results into their clinical practice. Together, we informed the families about advances in understanding the genetics and molecular basis of both the retinal degeneration (Dr.
You should always consult with and be guided by your Physician’s advice when considering treatment based on research results.



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