June 2021 Newsletter
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Diego's Brighter Future
By Nicolas and Marisa Forte of Ontario, Canada.
Diego Forte is a fearless warrior who never gives up. Having poor balance, one of the three symptoms of Usher 1F, he is great at taking tumbles but an expert at getting back up.
On New Year’s Eve 2017, it was like any other. We had a nice family dinner and watched the ball drop. Shortly after, we were racing to the hospital as Diego wouldn't wait a minute later to be born. Luckily, we made it just in time and he made his appearance shortly after midnight on January 1st.
As a newborn, he failed his infant hearing tests, which was a red flag for us. Shortly after, he was diagnosed with profound hearing loss. Thankfully, we learned he was a great candidate for cochlear implants, and we agreed to have the surgery as he would be the only non-hearing person in our family. Although we were feeling some shock and disbelief, we forged on with further testing and later learned of his Usher 1F diagnosis. This confirmed that there will be a gradual loss of vision due to retinitis pigmentosa.
Click here to read more of Diego's story.
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The Usher 1F Cereal Challenge
It seems as if every day we are hearing about the newest viral trend on the internet. Some are photos, some are videos, and of course, there is a never-ending stream of viral memes. We are thrilled to share that one of the most recent trends online was our very own #Usher1FCerealChallenge!
This campaign to both spread awareness and raise funding for research is the brainchild of our very own Root family in New Jersey. In thinking both about how Usher 1F affects individuals and what their son Zachary’s favorite food is, an ingenious concept arose. Why not ask people to simulate one of the symptoms of those who have Usher 1F? And thus, the Cereal Challenge was born. How can someone do something as seemingly simple as preparing a bowl of cereal when they do not have the ability to see?
On February 13th, the first participants donned blindfolds and felt around their kitchens attempting to gather a bowl, cereal, milk, and a spoon and subsequently prepare the classic breakfast meal.
With a little help from his parents and his dad’s college friends from the University of Arizona, Zachary’s Usher 1F Cereal Challenge took off! With over $150,000 raised and over one thousand videos, people all over the world have accepted the challenge!
Click here to learn read about the celebrities who accepted the challenge!
SnapTM, CrackleTM and PopTM
Photo credit: Kellogg Company
Zachary Root with his personalized box of Post Fruity Pebbles
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Introducing Sari Springer, Our New Board Member
Sari Springer joined the Usher 1F Collaborative board in January 2021. She has two nieces with Usher 1F, and so our work is very personal and meaningful for her. She has already stepped up, raising significant funds for research.
Sari is the Office Managing Partner at the Toronto office of Littler Mendelson P.C. She has been practicing law for almost 30 years and is a dedicated, compassionate, focused and efficient practitioner who leaves “no stone unturned” in servicing her clients. Sari has developed a hybrid practice, focusing on employment law as well as higher education law.
We are very excited to have Sari join us in our efforts for a cure.
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Usher 1F International Scientific Research Conference
On May 13th and 14th, 2021, Usher 1F Collaborative hosted a virtual international scientific research conference, Therapeutic Strategies for Large Protein Coding Genes in Usher Syndrome. We are grateful to the Chan Zuckerberg Initiative (CZI) for funding the conference through our Rare As One Project grant, as well as to our sponsors, The Ardent Companies, Associated Agencies, I. Halper Paper & Supplies, and Franklin Mutual Insurance.
Because Usher 1F alone would have been a small topic for a major research conference, we opted to expand the focus to include other types of Usher syndrome caused, as is Usher 1F, by mutations in large genes. Our goal for this meeting was to bring together investigators to share ideas and foster collaborations, both those whose areas of research focus on Usher syndrome, as well as those working on the development of relevant scientific approaches and tools.
Click here to read about our conference presentations and speakers
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Announcing RUSH1F, the Usher 1F Natural History Study in Partnership with Foundation Fighting Blindness
We are thrilled to launch RUSH1F, the Usher 1F natural history study in partnership with Foundation Fighting Blindness, the world’s leading private funding source for retinal degenerative research. Additional funding for the project will be provided by the Marjorie C. Adams Trust. We are excited and grateful to Foundation Fighting Blindness for the opportunity to partner to achieve this critical milestone for patients with Usher 1F.
The RUSH1F natural history study will follow 40 individuals with USH1F who are 8 years of age or older, assessing changes in their vision and retinal structure over four years. The primary goals of the study are to identify outcome measures for future clinical trials of emerging therapies. The Jaeb Center for Health Research in Tampa, Florida, will serve as the coordinating center for study. Dr. Katarina Stingl, University of Tübingen in Germany, will serve as the chair of the international multicenter clinical trial group. “Genetic diseases with multiple sensory impairment such as Usher syndrome are the most common cause of combined deafness and blindness in adults. It is very important that in this upcoming trial we are able to provide clinical knowledge about this very rare disease. Only by means of international cooperation will we be able to progress to future research that can try to save the vision of affected persons with rare diseases,” says Dr. Stingl.
Click here to read more about this exciting opportunity and critical milestone
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Thanks again for your support!
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