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Tuesday, July 18, 2017

Ush Connections Conference 2017

I can't believe it, it's been 365 days, TODAY, since I have written on the blog!

Since that time, we hosted our first race under Ush One See, which was a huge success! We are in full swing planning our second race, which will be held on September 16, 2017. And we even created a website, Check it out for more info on the upcoming event!

But what I wanted to write about was the Ush Connections Conference, which was held in Chicago this past weekend. Hunter and I had the wonderful opportunity to attend, and I am so grateful to the Usher Syndrome Coalition for hosting this event!

There were two researchers who spoke about Gene Replacement Therapy and Stem Cell Therapy. The first, Edwin M. Stone, is the Director of the Stephen A. Wynn Institute for Vision Research at the University of Iowa ( He is well known for his work in defining the genetic basis of blinding eye diseases: ranging from two of the most common causes of blindness, macular degeneration and glaucoma, to much rarer conditions like retinitis pigmentosa and Usher syndrome. Dr. Stone has been very active in removing the technical, legal and financial barriers between genetic discoveries and the patients who could benefit from them. He founded the Carver Nonprofit Genetic Testing Laboratory at the University of Iowa that provides low cost genetic tests for more than 20 different inherited eye diseases to patients in more than 60 countries. His current interest is in developing affordable gene- and stem-cell-based treatments for all molecular forms of inherited retinal disease.

Dr. Ed Stone started off the day by telling everyone that "My job is to increase the hopefulness of everyone here by at least 100%. And for everyone wanting to ask the same question, which is WHEN: As soon as humanly possible. We are going to do everything we can every single day, as if it were our own children with Usher Syndrome."

What a wonderful thing to hear, as a parent of a child with Usher Syndrome. I am still in awe of these researchers who dedicate their lives to science and medicine, for reasons we may not even know or  understand, our children are at the forefront of their studies. What more could we ask for?

Also presenting that day was Dr. Ian Han. Dr. Han is Assistant Professor of Ophthalmology in the Wynn Institute for Vision Research at the University of Iowa, Carver College of Medicine. Dr. Han’s research involves translational models of gene and stem cell therapy for inherited eye disease, as well as advanced retinal imaging for improved understanding of vitreoretinal and choroidal pathology.

Both went into detail about gene therapy and stem cell therapy, neither of which I am educated enough to even begin educating others about. But I will give you my best at what I took away from the day. (with a little help from google of course)

Gene therapy is designed to introduce genetic material into cells to compensate for abnormal genes to make a beneficial protein. If a mutated gene causes a necessary protein to be faulty or missing, gene therapy may be able to introduce a normal copy of the gene to restore the function of the protein. A vector is a carrier that is genetically engineered to deliver the gene. Certain viruses are used as vectors because they can deliver the new gene by infecting the cell. Those viruses are modified so that they can't cause disease when used in people. Some types of virus integrate their genetic material (including the new gene) into a chromosome in the human cell. If treatment is successful, the new gene will make a functional protein. There are various challenged associated with this process, such as targeting the delivered genes to particular cells and ensuring that new genes are precisely controlled by the body. But in my eyes, it's a very promising approach to those who still have a decent amount of vision. WHEN? Hopefully sooner than later, I wish I had an answer to this question.

Stem cell therapy is aimed at restoring sight to those who have lost too much vision to really benefit from gene therapy. Stem cell therapy converts skin cells into induced pluripotent stem cells (iPSCs). These stem cells are then converted into retinal tissue and transplanted to those in the eyes that are in late stages of retinal degeneration. The limiting factor to this is that testing for safety takes time, as with all things. It's all still a work in progress!

Both of these treatments are very promising and are progressing on a weekly basis. As with all things, these are new techniques to treat retinitis pigmentosa, and are not yet perfected. But their response to all road blocks is simple "we will fix it".

Ush One See funded a natural family history study at LSU - NOLA to support Dr. Jennifer Lentz's work with drug therapy treatments, and the wonderful thing is, this study is needed for any form of treatment. So we are helping to advance every avenue of treatment out there!

There was one question from an individual with Usher Syndrome during the researcher Q&A that really caught my attention. And she wanted to know why her white cane, which she uses to navigate in life, doesn't have more assistive technology? She wanted to know why cars could detect when another car was stopping in order to prevent a crash, yet the only thing she has to navigate herself through the street with is a white cane. No lights, no vibrations, no technology that seems to be everywhere else these days. And to our delight, they said they are working on these kinds of things for the visually impaired, such as a vest with sensors that could alert someone if they were about to run into something, such as sending vibrations through the vest. HOW AMAZING IS THAT?!

Thank you, again, to the Usher Syndrome Coalition for bringing our Usher Family together again and for all of the information we received from the presentations.
If there's anything anyone can do to help advance these treatments on a day to day basis, it's tell our story. Create awareness. You have a connection that you think could benefit us? Let us know. It takes time, it takes money, it takes connections and it takes persistence. Thank you all, for choosing to BE THE CURE!


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  2. Retinitis pigmentosa is a group of rare, genetic disorders that involve a breakdown and loss of cells in the retina. The common symptoms of this disease difficulty seeing at night and a loss of side vision. Stem Cells Treatment for Retinitis Pigmentosa