Usher Syndrome Blog and News

The latest USH blog posts and various news items impacting the Usher syndrome community. Join our mailing list.

The Kimberling Usher Research Laboratory in the Institute for Vision Research is pleased to announce an increase in their campaign goal to $10 million. This increase is possible because additional major donors have joined the "challenge side" of the matching effort so that they can now match every gift for Usher Syndrome Research, dollar for dollar, until $10 million is raised.

Since 1995, University of California, Irvine stem cell researcher Magdalene J. Seiler, PhD has pursued promising research into the development and usage of retinal sheet transplantation. The treatment is based on transplanting sheets of stem cell-derived retina, called retina organoids to the back of the eye with hopes of re-establishing the neural circuity within the eye. Recently, Seiler has received a $4.8 million grant from the California Institute of Regenerative Medicine (CIRM) to continue to develop a stem cell-based therapy for retinal diseases such as retinitis pigmentosa.

The number one question asked of the Usher Syndrome Coalition is “What is the status on treatments and/or a cure for Usher syndrome?” In order to be able to answer this question, the Usher Syndrome Coalition sponsors an annual conference focused exclusively on the latest efforts and findings of Usher researchers worldwide. This year, for the first time, our 10th annual USH Connections conference, along with the fourth international symposium for scientists, will be hosted by our partners in Germany.

A group of research physicians have discovered that using stem cells from a person’s own bone marrow has reported success in improving vision for patients with Retinitis Pigmentosa. The bone marrow stem cells come from the same person; therefore, there can be no rejection. Of the 33 eyes studied, 45.5% of individual eyes improved and 45.5% remained stable over the follow-up period when they typically have been worsening. Vision improvement is 98.4% likely to be a consequence of this treatment.

A US clinician has received a five-year £6.1 million grant to investigate the potential of advancing a gene therapy currently used in dogs to help retinitis pigmentosa (RP) patients. The treatment restored the night vision and stopped the progression of the daytime vision-loss in dogs with progressive retinal atrophy (PRA). PRA is an inherited condition in dogs and is caused by the same genes that are responsible for RP. This new grant will allow clinicians to build on primary studies in preparation for a possible clinical trial in human patients with RP.

Members of the USH community can participate in the Walk4Hearing in support of the Usher Syndrome Coalition. Here are the dates and locations for 2018 walks.

Sparing Vision, a French biotech, plans to use a naturally occurring protein called rod-derived cone-viability factor, which binds to a peptide on cone photoreceptor cells in the retina and allows more glucose to enter the cell. By allowing more glucose in, it will slow down or prevent cell death; thus stopping vision loss. This could be beneficial for patients with retinitis pigmentosa.

The nonprofit biomedical institute is seeking to acquire samples of every drug ever developed to see if they can be used to treat diseases besides those for which they were intended. That means collecting roughly 10,000 to 11,000 compounds discovered since the end of the 19th century. Most never made it to market, often because they weren’t effective or had unexpected side effects.

ProQR Therapeutics N.V. announced the results for their clinical trial of QR-110 LCA 10 is on track, and eight out of twelve patients have been enrolled in a Phase 1/2 trial. The results for safety and efficacy for the trial are expected to be announced in the second half of 2018. Currently, they planing to announce data from a QR-421 study for Usher Syndrome. The organization has received $7.5 million in funding from the Foundation Fighting Blindness (FFB) and hopes to use QR-421a for Usher Syndrome Type 2A to target mutations in exon 13.

For the last couple years, Ophthalmologist Dr. Kang Zhang and UC San Diego researchers have been working with CRISPR by injecting it into the eyes of mice with Retinitis Pigmentosa. According to Dr. Zhang, they have been able to bring back 30 percent of vision and sometimes 50 percent of vision. Zhang’s lab has recently received the green light to start clinical trials this fall and if the trial goes well then CRISPR can be applied to all human genetic diseases or conditions.

Researchers at Duke University believe they have developed an approach to treat retinal conditions such as Retinitis Pigmentosa, which include misfolded proteins in the cell that the eye cannot process. Scientists have shown by boosting the cells’ ability to process misfolded proteins could keep them from clustering inside the cell. They created and tested the strategy in mice, significantly delaying the onset of blindness. This technique would not be used to prevent cell death retinal diseases but also neurodegenerative diseases such as Huntington’s, Parkinson’s, and Alzheimer’s.

David Rand, Marie Jakešová, Gur Lubin, Ieva Vėbraitė, Moshe David-Pur, Vedran Đerek, Tobias Cramer, Niyazi Serdar Sariciftci, Yael Hanein, Eric Daniel Głowacki

A simple retinal prosthesis is being developed in collaboration between Tel Aviv University in Israel and Linköping University in Sweden. Fabricated using cheap and widely-available organic pigments used in printing inks and cosmetics, it consists of tiny pixels like a digital camera sensor on a nanometric scale. Researchers hope that it can restore sight to blind people.

Ekaterina S. Lobanova, Stella Finkelstein, Jing Li, Amanda M. Travis, Ying Hao, Mikael Klingeborn, Nikolai P. Skiba, Raymond J. Deshaies, Vadim Y. Arshavsky

New research outlines a strategy that in mouse models significantly delayed the onset of blindness from inherited retinal degeneration such as retinitis pigmentosa.

Bill Whitaker of CBS’s 60 minutes interviewed Feng Zeng to learn more about Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR). Whitaker’s interview with Zhang provides basic facts that are accessible to anyone on CRISPR and its possibility of not only curing genetic diseases but preventing them altogether.

An Ottawa-based company, iBionics, is working to improve the effectiveness of vision-restoring technology by developing a bionic retina, the Diamond Eye implant. iBionics is targeting for full approval and commercial availability by 2024.

One of these recent discoveries doesn't replace an entire eye, but supplants a major component of vision. It holds some promise for millions of people who could otherwise go blind. In a first, scientists in China have created artificial photoreceptors to help blind mice see.

ReNeuron, a developer of cell-based therapeutics, received a $1.5 million grant award from the UK Innovations agency. The project will allow further development of cell banks of ReNeuron’s hRPC candidate and as well as the development of product release assays for late-stage clinical development. The hRPC therapy is currently being tested in a Phase III clinical trial in the US for patients suffering retinitis pigmentosa.

A retinal implant allowed a 69 year old woman with macular degeneration to see more than double the usual number of letters on the vision chart. Luxturna, the gene therapy was approved by the FDA in 2017, corrects a mutation found in Leber congential amaurosis (LCA).

Caroline C. W. Klaver, MD, PhD; Alberta A. H. J. Thiadens, MD, PhD

Children with retinitis pigmentosa who received vitamin A supplementation were associated with slower rate of cone electroretinogram amplitude compared to children who did not, a small study found.

This story is designed to help you find an answer to the question: will a stem cell therapy work for me? To get an answer, Dr. Mary Sunderland of the Foundation Fighting Blindness Canada, suggests that you pay attention to three key points when you read new stories about stem cell discoveries or clinical trials...

Rajiv Gandhi Govindaraj, Misagh Naderi, Manali Singha, Jeffrey Lemoine, Michal Brylinski

Researchers at the LSU Computational Systems Biology group have developed a sophisticated and systematic way to identify existing drugs that can be repositioned to treat a rare disease or condition. They have fine-tuned a computer-assisted drug repositioning process that can save time and money in helping these patients receive effective treatment.

Odylia Therapeutics aims to advance gene therapies that are getting left behind. Odylia’s focus is gene therapies with scientific promise but limited commercial opportunity that maybe gathering dust on the selves of labs or companies.

Three blind mice could be a thing of the past. Scientists have restored the sight of blind mice by implanting tiny gold prosthetic photoreceptors into their eyes. So far, this incredible technique has only been carried out on mice. However, the work holds some hope for people with degenerative eye diseases such as retinitis pigmentosa or macular degeneration.

Pixium Vision, a company developing innovative bionic vision systems to enable patients who have lost their sight to lead more independent lives, announces today the world’s first successful human implantation and activation of PRIMA, its new generation miniaturized wireless photovoltaic sub-retinal implant, in a patient with severe vision loss from atrophic dry Age-related Macular Degeneration (AMD).

A French biopharma company has announced their plans to carry out human trials of a new treatment that would insert genes from light-seeking algae into the eyes of patients with inherited blindness in order to help them regain sight. The treatment involves optogenetics, a technique that converts nerve cells into light sensitive cells.

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