Members in the News
Dr. Dinculescu goes to Washington!
Dr. Astra Dinculescu was selected to participate in the 2016 AEVR Emerging Vision Scientists Program on September 14-15 in Washington, D.C. She is one of the 22 final participants selected from across the United States to attend the events in Capitol Hill to advocate their science, and present the innovative aspects of their research to members of Congress in order to promote sustained National Institutes of Health funding. Follow this link to find out more on her advocacy for vision research: http://ww.eyeresearch.org/naevr_action/EVS2016.html
Dr. Gregory Schultz, Professor of Ophthalmology and Ob/Gyn, recognized for 27 years of research excellence, teaching, and mentoring in the field of Ocular and Skin Wound Healing
The Center for Vision Research and the Institute for Wound Research hosted an all-day symposium on June 6, 2016 on the topic of “Ocular and Skin Wound Healing: From Repair to Regeneration” to recognize the transformative contributions of Dr. Greg Schultz in this field. A world-class cast of speakers, all of which have collaborated with Dr. Schultz over the past three decades, presented ground-breaking work being done to treat difficult wounds on the cornea and skin. As one speaker said, “Greg has been the catalyst responsible for bringing together the talent and inspiring the ideas that have accelerated discoveries in this field.”
Two members of the Center for Vision Research are awarded grants from the National Eye Institute to pursue treatments for retinal degenerative diseases
“Cytokine Regulation of Photoreceptor Gene Expression”
This project is focused on identifying the mechanism by which the neural retina induces endogenous neuroprotection. This system is induced in Mueller cells as a mechanism to delay retinal degeneration. The significance of this proposed study is that we will identify mechanisms for controlling both the induction of the neuroprotective factor leukemia inhibitory factor (LIF) early in disease and its suppressed expression during the rapid phase of retinal degeneration. This is important for two reasons. First, understanding the regulation of LIF expression will identify factors that determine the age of onset and the rate of degeneration in patients with retinal degeneration. Second, understanding the regulation of LIF would also lead to the identification of potential targets that can be manipulated to promote neuronal survival by inducing and maintaining LIF expression.
“Developing Efficient AAV Vectors for Photoreceptor Targeting via the Vitreous”
The overall goal of this proposal is to develop novel Adeno-associated viral (AAV) vectors that are capable of transducing photoreceptors following a non-invasive intravitreal injection. In so doing, we will overcome a major hurdle in the field of retinl gene therapy – how to safely deliver genes to rod and cone photoreceptors in fragile, diseased retinas that are prone to further damage upon surgically-induced retinal detachment. Screening will be performed in mouse and non-human primate and most efficient vectors will be tested for their ability to restore vision to mouse models of CNGB3 achromatopsia and GUCY2D Leber congenital amaurosis- 1(LCA1).
Researchers see gene-therapy grant improving vision
By Kristine CraneStaff writer
Published: Wednesday, July 24, 2013 at 4:59 p.m.
The University of Florida’s ophthalmology department, together with gene therapy company AGTC in Alachua, received an $8.4 million grant from the National Eye Institute at the National Institutes of Health to study gene therapy for achromatopsia, a genetic condition that severely impairs peoples’ vision.
The NEI gives out few grants each year, and this one lasts five years.
“It’s a very significant grant. It’s a great validation of the team that we put together,” said Sue Washer, president and CEO of AGTC.
According to Dr. William Hauswirth, the UF professor who will be leading the UF portion of the trial, “Barring any real unforeseen and unfortunate challenges, we’ll be trying it on patients in three years.”
Hauswirth has been working on gene therapy for blindness for the past 30 years, using recombinant viruses to generate copies of faulty or missing genes affecting vision.
Achromatopsia, which affects the cones on the retina called fovea, makes it very difficult for people to read, navigate and recognize others. Patients are also very sensitive to bright room light, and most are legally blind, Hauswirth explained.
“It’s a relatively common disease, even though it’s still considered an orphan disease, but there are lots of patients out there,” Hauswirth said, adding that the condition affects about 22,000 people in the United States and Europe.
“They would all love to do (the trial), but we’ll have to start carefully with a few patients in each site.”
Washer said the therapy being studied in this trial could potentially help about half those patients, those who carry the faulty gene.
“But we’re very hopeful that success will translate into us being able to develop a follow-up product that will help the remaining patients,” she said.
There are seven trial sites total in the U.S., and each one will study a slightly different part of the disease and the gene therapy, Hauswirth said.
The therapy delivers copies of the achromatopsia gene to the retina, effectively replacing the faulty gene.
Hauswirth said there have been promising results in dogs and mice. “I’m quite optimistic,” he said, adding that patients should have improved visual acuity and reading ability and reduced pain in daylight.
“Quality of life ends up being the bottom line here,” Hauswirth said. “Can they navigate by themselves, get along better socially?”
Hauswirth’s research on patients with Leber’s congenital amaurosis (LCA), another disease that causes blindness and affects a different gene, has shown promise in human trials, restoring functional vision to several patients.
“It’s nice to see it where I’m actually treating patients instead of mice and dogs,” Hauswirth said. “At the time I started, there wasn’t even a gene known that causes these diseases.”
The process from discovering a gene therapy and getting it to patients, however, usually takes several years, and that’s where AGTC comes in.
“We bring the perspective of translational research to the table,” Washer said, adding “that happens in between when a discovery is made at an academic center and when the FDA approves a product.”
Prepping a product for the market involves taking it from promising animal work to preclinical work through three-phase trials in humans to determine safety and efficacy — in total, about an eight- to 12-year process, Washer said.
Contact Kristine Crane at 338-3119, or firstname.lastname@example.org.
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William Hauswirth awarded Foundation Fighting Blindness’ “Best of the Best” Award.
Scientists Hauswirth, Aguirre and Beltran Recognized by FFB for Research Achievements
June 29, 2013 – Retinal research is not an easy career path. It’s a commitment to years of painstaking work — and overcoming inevitable failures and setbacks — before potentially achieving even a modest breakthrough. And once a promising treatment is discovered in the lab, scientists face formidable challenges in preparing it for a clinical trial. The process of translating a treatment for human study requires significant funding, clearing regulatory hurdles and managing the likelihood of additional technical issues and delays.During the kick-off luncheon at its VISIONS 2013 conference in Baltimore, the Foundation Fighting Blindness recognized the outstanding accomplishments of three retinal scientists whose passion for science and making a difference in peoples’ lives trump the professional challenges.The Llura Ligget Gund Award, given to “the best of the best” for career achievements in retinal research, was presented to William Hauswirth, Ph.D., of the University of Florida, for his leadership role in the development and advancement of gene therapy delivery systems, which are now used ubiquitously in lab and clinical studies for a variety of retinal degenerative conditions. Dr. Hauswirth began his gene therapy research in the early 1990s, when the first genes linked to retinal degenerations were being discovered.
The University of Pennsylvania’s Gus Aguirre, V.M.D., Ph.D., and William Beltran, V.M.D., Ph.D., received the Foundation’s Board of Directors Award, given annually for outstanding research progress leading to sight-saving treatments and cures. Drs. Aguirre and Beltran have identified and studied naturally occurring canine models of retinal conditions — including those for Leber congenital amaurosis (LCA), retinitis pigmentosa (RP), Best disease and achromatopsia — which they are now using to evaluate therapies in preparation for clinical trials.
The Foundation-funded research of Drs. Hauswirth and Aguirre was critical to the launch of thefirst-ever gene therapy clinical trials for people with retinal diseases. In 2001, they were members of the team which showed that corrective gene therapy restored vision in Briard dogs — including the media sensation Lancelot — born blind from LCA caused by RPE65 mutations. The proof-of-concept in Briards opened the door to gene therapy clinical trials for humans.
The recipient of a Foundation career development award in 2004 and his Ph.D. in 2006, Dr. Beltran has been working under the mentorship of Dr. Aguirre with a focus on retinitis pigmentosa and retinal therapies. He was a lead investigator in a 2012 study of a gene therapy which preserved vision in a canine model of X-linked RP.
“These three scientists may not get the visibility of investigators on the front lines of clinical trials, but their contributions are just as important,” says Stephen Rose, Ph.D. chief research officer of the Foundation. “Without their achievements, we wouldn’t have human studies of vision-saving therapies.”