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Archive for the Usher syndrome Category

ARVO 2018: Dr. Steve Rose Reports on CRISPR/Cas9 for Inherited Retinal Diseases

FFB’s own Dr. Steve Rose, chief scientific officer, reviews our commitment to funding and exploring CRISPR/Cas9 gene editing for inherited retinal disease in the video below.

FFB currently funds CRISPR/Cas9 projects at four institutions:

  • Johns Hopkins University (retinitis pigmentosa caused by the P23H mutation in RHO)
  • Columbia University (RP caused by the D190N mutation in RHO)
  • Massachusetts Eye and Ear Infirmary (RP caused by a mutation in RP1)
  • UCLA (Usher syndrome 1B caused by a mutation in MYO7A)

Want to learn more about the benefits of CRISPR/Cas9? Check out: A Cut-and-Paste Approach to Fixing Retinal-Disease Genes

FFB-CRI Investing $7.5 Million in Emerging Therapy for USH2A

Audio version:

The Foundation Fighting Blindness Clinical Research Institute (FFB-CRI) has entered into a partnership with ProQR to develop a retinal therapy for people with Usher syndrome type 2A (USH2A) caused by mutations in exon 13 of the USH2A gene. FFB-CRI will be investing up to $7.5 million in milestone-based funding to advance the treatment, known as QR-421a, toward a Phase 1/2 clinical trial during 2018. ProQR plans to issue the initial data report for the clinical study in 2019.
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History Is Made: FDA Approves Spark’s Vision-Restoring Gene Therapy

Spark LogoSpark Therapeutics’ vision-restoring RPE65 gene therapy has received marketing approval from the U.S. Food and Drug Administration, becoming the first gene therapy to gain regulatory approval in the U.S. for the eye or any inherited condition.

Known as LUXTURNA™ (voretigene neparvovec), the gene therapy restored vision in a clinical trial for people between the ages of 4 and 44 with Leber congenital amaurosis (LCA) caused by mutations in the gene RPE65. Study participants with severe vision loss reported putting away their navigational canes, seeing stars, being able to read, and recognizing faces of loved ones. Vision restoration has persisted for at least three years. The treatment is also designed to work for people with retinitis pigmentosa (RP) caused by RPE65 mutations. Continue Reading…

VISIONS 2016 – Dr. Richard Weleber Receives FFB’s Highest Research Honor, Recognized in Touching Video

Dr. Richard WeleberConsidering all that Richard Weleber, M.D., has accomplished over four decades —
including leadership and oversight of clinical trials for emerging retinal-disease therapies and innovations in retina imaging and functional evaluation at the world-renowned Casey Eye Institute, Oregon Health & Science University — it comes as no surprise that he’s been given FFB’s Llura Liggett Gund Award for career achievement. Dr. Weleber became the 10th recipient of the Foundation’s highest honor, named after FFB co-founder Lulie Gund, during the opening lunch of the VISIONS 2016 conference.
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Back in Baltimore – VISIONS 2016, FFB’s National Conference, Returns to Its Founding City

Baltimore's Inner HarborFor the second year in a row, the Foundation Fighting Blindness’ national conference — this year titled VISIONS 2016 — will take place in FFB’s founding city of Baltimore, Maryland, June 30-July 3. More than 500 people are expected to attend the event, which will offer dozens of research- and lifestyle-focused sessions designed for people who are visually impaired and sighted as well.
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Traveling, Whether It Is Dark or Light

Moira Shea walking with her guide dog, Finnegan, in Barcelona, Spain.In November of 1971, the same year the Foundation Fighting Blindness (FFB) was established, I was diagnosed with Usher syndrome, a disease that causes both hearing and vision loss. I was 15 at the time, and my parents and I quickly became involved with FFB, and over the past 45 years, I’ve been able to meet many others dealing with the fear of blindness.
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Two New Videos Highlight FFB’s Vital Role in Retinal Research

Dr. Boye in her lab, conducting a tourAs everyone knows, there is never just one side to a story. That’s certainly true in the case of Dr. Shannon Boye, whose FFB-funded research is the subject of not just one but two new Foundation videos.
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For Rare Disease Day – The Many Benefits of Genetic Research

Rare Disease Day logoIt’s apropos that Rare Disease Day 2016 will be held on the rarest day on the calendar—Leap Day, February 29.

However, collectively, rare diseases are not uncommon. About 30 million Americans, nearly 10 percent of our population, are affected by one of 7,000 rare diseases. They’re an important public health issue, making it incumbent upon us to work hard to eradicate them.
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Retinal Researchers May Be Looking for You

A patient registers with My Retina Tracker.One of the biggest challenges in overcoming rare retinal diseases is, well, that they’re rare. There’s limited information about the conditions in humans, making it difficult for researchers to understand why they cause blindness and develop vision-saving treatments.
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2015 Top 10 Retinal-Research Advances

Researcher in a labThe Foundation Fighting Blindness’ scientists, donors and volunteers made 2015 an outstanding year in our fight against blindness. As I tabulated the year’s top 10 research advances—all made possible through FFB funding—I realized that eight are for clinical trials of emerging therapies that are launching or underway.
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