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Energized and Inspired by the Usher Syndrome Family Conference

VISIONS Guest and Tactile InterpreterLast weekend, I had the privilege of presenting at the third annual Usher Syndrome Family Conference in St. Louis. 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.

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. 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.

Interestingly, I learned from listening to the families that a number of affected children were of Chinese descent and had been adopted as infants. 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.

I happen to be going to China in August where I’ll meet with retinal specialists, including Dr. Ruifang Sui, of the Beijing Eye Hospital, who is the recipient of an FFB Career Development Award.  I am very interested to learn about the prevalence of Usher syndrome in China, and the other inherited rare retinal degenerative diseases in the Chinese populations.

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. The more affected people we can identify and study, the better we can understand the diseases and how to overcome them.

In presenting research updates to attendees of the Usher Family Conference, I was joined by Dr. William Kimberling, of Boys Town in Omaha, Nebraska, and the University of Iowa, and Dr. Margaret Kenna, of Harvard Medical School. Together, we informed the families about advances in understanding the genetics and molecular basis of both the retinal degeneration (Dr. Kimberling) and hearing loss (Dr. Kenna) in Usher syndrome.

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. 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. Researchers are currently using the Usher 1C mouse model to test these potential therapies before they are studied in humans.

My presentation included an overview of an emerging nanoparticle-based gene therapy for Usher syndrome 2A (USH2A). 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.

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. So nanoparticles are an important area of research for the Foundation and our members.

Stay tuned for additional reports from my “European Tour,” which includes stops in Amsterdam, Germany and France. It isn’t exactly a rock-and-roll tour, but if it was, I guess I’d call my band “Genes and Roses.”


Pictured above: At the Foundation’s recent VISIONS 2012 conference, a tactile interpreter translates a lecture for a man affected by both vision and hearing loss. 

2 Responses to 'Energized and Inspired by the Usher Syndrome Family Conference'

  1. Brian O'Hara says:


    Is the presentation on emerging nanoparticle-based gene therapy for Usher syndrome 2A published publicly anywhere?


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