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Archive for the General Category

ARVO 2018: Dr. Stephen Daiger Reports on the State of Genetic Testing for Inherited Retinal Diseases

After presenting a poster on a new mutation in the RP gene KIF3B at the ARVO meeting in Honolulu, FFB-funded geneticist Dr. Stephen Daiger discusses the progress that’s been made in genetic testing for people with inherited retinal conditions.

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

ARVO 2018: Studies Show Mediterranean Diet May Lower Advanced AMD Risk

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Several research studies have suggested that the Mediterranean diet (MeDi) – which is rich in fruits, vegetables, legumes, cereals, and fish – may be good for your health, including lowering your risk of an early visit from the grim reaper.

Known as the EYE-RISK CONSORTIUM, a large international research collaboration found that the MeDi reduced the risk of advanced age-related macular degeneration (AMD) by 39 percent. The researcher’s findings were highlighted in a poster on May 1 at the annual meeting of the Association for Research in Vision and Ophthalmology (ARVO) in Honolulu.
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ARVO 2018: Dr. Shannon Boye Reports on her Emerging Gene Therapy for LCA (GUCY2D)

At the annual ARVO research conference in Honolulu, I had an opportunity to talk with FFB-funded researcher Shannon Boye, PhD, University of Florida, about her advancement of gene therapy for Leber congenital amaurosis (GUCY2D mutations) toward a clinical trial.

ARVO 2018: World’s Largest Show and Tell for Innovations in Eye Research

arvo_post_042518In addition to funding sight-saving research, we at FFB work hard to tell the scientific world about it. That’s because knowledge sharing and collaboration are critical to accelerating the advancement of promising therapies. Progress in developing treatments and cures isn’t made in a vacuum.

The best opportunity for us to showcase FFB-funded research is at the annual meeting of the Association for Research in Vision and Ophthalmology (ARVO), which is being held April 29 – May 3 this year in Honolulu. More than 11,000 eye researchers from around the world — including five intrepid members from FFB’s science team — will gather to participate in what is essentially a massive “show and tell” of the latest scientific advancements.
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Retinal Patch Performs Promisingly in Clinical Trial for Dry AMD Patients

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Regenerative Patch Technologies, a company developing stem-cell-derived treatments for people with retinal diseases, has reported encouraging results for the first five patients with advanced, dry age-related macular degeneration (AMD) participating in a Phase 1/2a clinical trial for its therapy – a patch comprised of a layer of retinal pigment epithelial (RPE) cells on a synthetic scaffold. The treatment is known as the California Project to Cure Blindness–Retinal Pigment Epithelium 1 (CPCB-RPE1).
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Study Suggests Vitamin A May Benefit Children with RP

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An FFB-funded study at Massachusetts Eye and Ear Infirmary (MEEI) suggests that vitamin A palmitate supplementation may slow the decline of cone function by nearly 50 percent in children with retinitis pigmentosa (RP). Cones are the photoreceptors that normally provide daytime vision, and the ability to read, recognize faces, and perceive colors. Cone function was evaluated in the study by a full-field electroretinogram or ERG, which measures the retina’s electrical response to light.
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Vision Improvements Reported in Early Stem Cell Trial for Wet AMD

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Two patients with advanced wet age-related macular degeneration (AMD) in a Phase I clinical trial demonstrated improved visual acuity sustained for one year after a sheet of retinal pigment epithelial (RPE) cells derived from embryonic stem cells was transplanted under their retinas. Each patient had one eye treated. Vision improvement for one patient was 29 letters or about 6 lines on an eye chart. The other had a gain of 21 letters or about 4 lines.
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Best Disease Gene Therapy Advances Toward Clinical Trial

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BEST1-Untreated cBest patho MCT1-E66

Untreated retina

BEST1-treated MCT1-E66

Retina treated with gene therapy

Using gene therapy, FFB-funded researchers at the University of Pennsylvania School of Veterinary Medicine (Penn Vet) and Perelman School of Medicine have reversed the disease process in a canine model of Best disease, an inherited form of macular degeneration that can lead to severe vision loss in humans. The therapeutic effect of the treatment has been sustained for as long as five years. Results of the study led by Karina Guziewicz, PhD, and Artur Cideciyan, PhD, were published online in the journal Proceedings of the National Academy of Sciences (PNAS).
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Choroideremia Gene Therapy Moves into Phase 3 Human Study

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Nightstar Therapeutics, a retinal-disease, gene-therapy development company in the UK, is advancing its emerging gene therapy for choroideremia into a Phase 3 clinical trial known as STAR. The study will enroll approximately 140 patients at 18 clinical sites in the US, Europe, Canada, and South America.
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