USH2019 Usher Syndrome Connections Conference in Philadelphia


One week ago, on July 13th 2019, At Marriot Downtown Philadelphia, was held the 11th Usher Syndrome Conference organized by Usher Syndrome Coalition.

It was an incredible event, mostly because it never happedn that nearly 400 people related directly on indirectly to this disease gathered together.
Here you find the initial speech from Mark Dunning, Chairman, Usher Syndrome Coalition, and the abstracts of all the speeches.
What you will not find is the one to one talks with other people with Usher, with other families.
This is probably the biggest outcome for NoisyVision : there is a need for a similar conference in Italy, in Italian.
It is so important to meet other people who are facing the same problems, challenges and suffering. But after a day like this you definitely come out with the feeling that you are not alone.

Welcome to the 11th annual USH Connections Conference! This will be the largest gathering of people with Usher syndrome and their families in history with nearly 400 people in attendance. Today
you are not alone.
You will get to hear about research from some of the world’s leading Usher syndrome researchers. You will get to hear about how Usher syndrome figures in to the goals of some pharma companies. And you will get to hear from inspirational members of our community.
Most importantly you will get to meet and connect with others who are facing the same fears and challenges that you are. You will get to share your story and learn theirs. And hopefully like so many of
the attendees at this conference, you will make lifelong friendships with people who understand you better than anyone.
I am the chairman and one of the founders of the Usher Syndrome Coalition. I am the father of a twenty year old daughter who cannot attend because she is leading caravans of tourists on trail rides in
the Rockies (the girl with poor balance, vision, and hearing has chosen the cowboy life). I look forward to seeing so many of my dearest friends here in Philadelphia. And if we have not met yet, I
look forward to welcoming you to the Usher syndrome family. I hope you, like me, come to look forward to this event every year.
Thanks for coming!

“Treatments of the Future for Usher Syndrome: The future is now”
Margaret Kenna, MD, MPH, Boston Children’s Hospital

Usher syndrome is a genetic deaf-blind syndrome with at least 9 associated genes. Until now, management has been based on supporting the hearing loss with hearing aids, cochlear implants, and
language therapy; the vison loss with Vitamin A, antioxidants, and limited exposure to light. Genetic therapy is in its early infancy, but growing. Various techniques targeting different aspects of the genetic
code are being developed in the laboratory and in animal models, with many of these techniques potentially applicable to human Usher syndrome. Gene silencing, gene destruction, and gene supplementation
are varying approaches to treatment. Additional techniques include gene editing (using CRISPR-Cas9, etc.), replacement genes attached to viral vectors, RNA interference/editing, antisense oligonucleotides,
and the use of organoids to study various therapies. Examples of these different treatments include RNA-based therapies for Leber’s amaurosis and an exome-skipping strategy for USH2A; CRISPR-based
therapeutics for LCA10, eliminating a mutation in the CEP290 gene; the use of stem cells to create functional new cells, and progenitor cell activation, proposed for sudden hearing loss and noise-related hearing
loss. Although most of these proposed therapies remain in the lab and experimental, and not all will be applicable to every genetic disease, results are exciting and give hope for the future.

“Usher Inspiration: From Dreams to Action”
Dario Sorgato | Featured Speaker from the USH Community, Berlin

It is because of the vision and hearing loss that people with Usher syndrome have the possibility to see and hear like no one else. Without denying the problems and hurdles of daily life, people with Usher can learn to understand the signals of their own world and share their uniqueness. The inspiration of what people with Usher can do is not only for the Usher community but also for those who think they see and hear because their eyes and ears are functioning. Given the fact Usher syndrome is a challenging condition, it can be transformed into something positive. Starting from his personal experience and travels through the achievements of the NGO he founded, Dario Sorgato will provide some ideas on how to pursue your goals and think about your next step, perhaps the first, to realize your own dreams.

“Establishing a translational read-through approach for inherited retinal disorders”
Susan Schneider, MD | Eloxx Pharmaceuticals, USA and Israel

Purpose: We are developing a novel approach to addressing inherited retinal disorders, including Usher Syndrome, that is being evaluated as a series of Eukaryotic Ribosome Selective Glycosides (ERSGs), delivered to the eye by intravitreal injection. These compounds are optimized to promote read-through of premature stop codons to restore essential proteins that are missing due to nonsense mutations.

Methods: Read-through of Usher mutations, functional restoration of protein production associated with a nonsense mutation, tolerability, and pharmacokinetics of retinal exposure evaluations were performed.

Results: In vitro models demonstrated positive read-through of up to 2.5-fold over baseline with Usher 1F and Usher 2A mutations. Ocular tolerability was assessed in a rabbit model. ERG and histopathology evaluation showed superior tolerability of intravitreally injected Eloxx compounds relative to another read-through inducing agent, gentamicin. There was no adverse effect on intraocular pressure. Substantial retinal exposure was demonstrated.

Conclusion: These results demonstrate positive early evidence of a novel read-through approach for inherited retinal disorders, including Usher Syndrome. The data support continued development of these novel small molecules for intravitreal delivery to restore production of full-length functional proteins in the retina as a potential common therapeutic option for these diseases.

“RUSH2A Study – the Importance of Natural History Studies”
Christine Kay, MD | Vitreoretinal Associates, Gainesville, Florida

In this presentation, we will begin with a very brief clinical overview of Ush2A-related retinal degeneration, and discuss the both syndromic and nonsyndromic Ush2A. This will be followed by an in-depth discussion of the RUSH2A natural history study design, inclusion/exclusion criteria, outcome measures, and protocol. No RUSH2A results will be released at this time since study and analysis are still ongoing. We will then discuss from a broader perspective the importance and relevance behind natural history studies. Natural history studies are critical in identification and characterization of a patient population, aiding drug development, and informing clinical trial design and outcome measures. We will end with a question and answer session.

“Qr-421a, an Antisense Oligonucleotide for the Treatment of Retinitis Pigmentosa Due to USH2A Exon 13 Mutations”
Aniz Girach, MD | ProQR Therapeutics, Netherlands

Usher syndrome (USH) is a common inherited retinal degeneration (IRD), which affects hearing, balance and vision. USH caused by USH2A mutations is one of the commonest causes of both USH and RP with syndromic features. Currently there is no treatment for the devastating sensory deficits caused by USH. In an attempt to fill this void, QR-421a is an antisense oligonucleotide (ASO) and designed to specifically target mutations in exon 13 of the USH2A gene for the treatment of patients with RP. QR 421a binds to a specific sequence in the USH2A pre-messenger ribonucleic acid (mRNA) and modulates splicing by enhancing exon-skipping. Skipping of exon 13 from the USH2A pre-mRNA results in mRNA without exon 13, that is expected to lead to functional (albeit shorter) Usherin protein. It is hypothesized that treatment with QR-421a will result in restoration of functional Usherin protein in photoreceptors and restoration of vision. The first-in-human study of QR-421a (PQ-421a-001) has already commenced and will evaluate the safety and tolerability of a single dose of QR-421a in adult subjects with RP due to mutations in exon 13 of the USH2A gene. QR-421a will be administered via intravitreal injection in the worst eye. A potential dose response relationship and duration of effect following a single dose of QR-421a, based on improvements in retinal structure or visual function, will also be investigated to inform selection of dose level(s) and dosing intervals for subsequent studies of QR-421a clinical development.​​​​​​​

“Importance of Collaboration in the Educational System: Identifying Your Team Players”
Lanya McKittrick, PhD & Carly Fredericks | Parents of kids with Usher syndrome

Parents of children who have Usher syndrome have unique challenges before, during, and after Individualized Education Program (IEP) meetings. Often there is a lack of professional knowledge about deafblindness, thereby requiring families to gain and share knowledge. Because parent knowledge and advocacy are essential roles, there is a need to understand better how parents advocate and share knowledge during the IEP meeting. The results from this qualitative research study will offer participants an understanding of parent-initiated strategies used to increase IEP team collaboration and to address their child’s needs, paying careful attention to the much-neglected area of deafblindness. Families can benefit from hearing from other families experiences. The leadership skills and strategies identified in this study will provide families with ideas about how to advocate and share knowledge using a firm, but positive approach.

In addition to sharing advocacy strategies identified in the research study, the presenters will share their personal experiences as moms of children with Usher syndrome, offering practical strategies they use when working with educational teams.

Learning Objectives:

  • Participants will be able to identify parent-initiated strategies for advocating for their children in IFSP and IEP meetings.
  • Participants will gain a better understanding of some of the challenges that students with Usher syndrome experience in the classroom because of the dual-sensory loss.

“The Benefits of Federal Employment for People with Usher Syndrome”
Ryan Thomason | Adult with Usher Syndrome

What is the federal mandate to hire people with disables and how can I make it work for me?

How a ‘Schedule A Letter’ will get your name toward the top of the review pile and how to apply for federal jobs. How the Department of Labor’s Workforce Recruitment Program benefits current college students and recent graduates with disabilities looking for internships and full-time employment. Learn about how non-profits and businesses use the Ability One program and how this program for the blind is obligated by the federal government to be a first source selection of supply/services contracts.

During the conference there were also

CHILDCARE for children 9 and under. The Usher Syndrome Coalition has hired Philadelphia Nanny Network, a
highly reputable childcare agency, to provide your child(ren) with a safe, fun and comfortable experience while attendees relax and enjoy the conference.

MINI-CAMP for kids and teens ages 10-17. As an official USH Partner of the Usher Syndrome
Coalition, Ava’s Voice is pleased to offer USHthis Mini Camp – a new program for youth attending the USH Connections Conference.

Usher Syndrome Society continued to grow the global “Shine a Light on Usher Syndrome” exhibit featuring portraits and stories of those living with Usher syndrome. This exhibit travels the globe spreading public awareness of Usher syndrome.
Read more here

Last but not least, it was enforced the importance to sign up at the USH Trust Registry, the largest international Usher syndrome registry in the world.

Many news, many information, one main result. There is HOPE!

1. Gene therapy is making giant steps. Many genes have been identified in a few years and clinical trials are already in experimentation on humans.
2. That it is important that people with this disease meet, share, to learn and see how other people face the same difficulties.
3. That in the United States there were already 11 conferences on usher syndrome. In Italy not even 1.
4. In Italy is missing a community of Usher people, a dedicated . Maybe Lega del Filo d’Oro – ONLUS?
It’s with sharing that you grow and overcome the difficulties.


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