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The husband-wife team of Drs. Albert M. Maguire and Jean Bennett of the University of Pennsylvania School of Medicine are on one of two teams using gene therapy to fight blindness.
FORT LAUDERDALE, Fla. — For the first time, researchers have used gene therapy to increase light sensitivity and improve vision in patients who were virtually blind, a finding that offers new hope to hundreds of thousands of patients with inherited forms of vision impairment.
Although the patients studied have an extremely rare form of blindness called Leber’s congenital amaurosis, researchers believe the approach ultimately could be used for a much broader spectrum of disorders, including retinitis pigmentosa and macular degeneration.
The treatment, so far meant only to prove the safety of the technique, produced “real clinical benefit” and “made a real difference in patients’ lives,” said geneticist Robin R. Ali of University College London, senior author of one of two reports presented Sunday at a Fort Lauderdale, Fla., meeting of the Association for Research in Vision and Ophthalmology.
The reports were published online Sunday by the New England Journal of Medicine.
“The fact that they had patients who could now read lines on an eye chart . . . and one who could run an obstacle course — this is a really great advance,” said geneticist Stephen Rose, chief research officer of the Foundation Fighting Blindness, who was not involved in the research. “This has changed the landscape of hope for patients.”
Added Dr. Morton F. Goldberg, an ophthalmologist at John Hopkins University’s Wilmer Eye Institute, “In the field of retinal dystrophies, this is, I believe, the most important therapeutic discovery” in four decades. “It’s a landmark.”
The results are particularly important because gene therapy, in which a good gene is substituted for a naturally occurring defective one, has been “a snakebitten field,” with at least two subjects in other experiments dying and a handful of others developing cancer, said Dr. Albert M. Maguire of the University of Pennsylvania School of Medicine, lead author of the second report.
Leber’s congenital amaurosis affects about 3,000 people in the United States and perhaps 1 in every 50,000 worldwide. Children with the disorder are born with severely impaired vision that deteriorates over the course of their lives until they are totally blind in childhood or adolescence. There is no treatment for it.
What makes Leber’s a good candidate for gene therapy is that most of the visual appar a - tus is intact — at least at birth. Typically, the defective gene that produces it is one of several in a biochemical pathway that produces chemicals needed by the eye to generate an electrical signal for transmission to the brain.
If that gene could be replaced before the visual apparatus deteriorates from lack of use, then vision could be restored, Maguire said.
That same basic strategy could be used to treat a variety of congenital retinal disorders.
Retinitis pigmentosa — the broad family of disorders that includes Leber’s — affects an estimated 100,000 Americans. Macular degeneration affects 1.25 million Americans now, and the number is expected to grow to 3 million by 2020 as the population continues to age.
Those conditions are caused by other defective genes, but the treatment principle would be the same.
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The life of Marie Schlau, a German Jewish girl born in 1833 hides great unsolved mysteries: accidents, disappearances, enigmas, unknown diagnoses, disturbing murders, love, tenderness, greed, lies, death ... alternatively a different story unfolds every time and takes us closer to the present. Thus, there are two parallel stories unravelling, each in a different age and place, which surprisingly converge in a revelatory chapter.
Paperback and Kindle versions for "The legacy of Marie Schlau" available for sale at Amazon now!
Currently, BabelFAmily is financing two promising research projects aimed at finding a cure for Friedreich's Ataxia. Whenever you make a donation to us or purchase a copy of "The legacy of Marie Schlau", this is where all funds raised will be devoted to:
1) Gene Therapy for Friedreich's Ataxia research project:
The project is the result of an initiative of Spanish people affected by this rare disease who are grouped in GENEFA in collaboration with the Spanish Federation of Ataxias and the BabelFAmily. The Friedreich’s Ataxia Research Alliance (FARA), one of the main patients’ associations in the United States now joins the endeavour.
2) Frataxin delivery research project:
The associations of patients and families Babel Family and the Asociación Granadina de la Ataxia de Friedreich (ASOGAF) channel 80,000 euros of their donations (50% from each organisation) into a new 18-month project at the Institute for Research in Biomedicine (IRB Barcelona). The project specifically aims to complete a step necessary in order to move towards a future frataxin replacement therapy for the brain, where the reduction of this protein causes the most damage in patients with Friedreich’s Ataxia.
The study is headed by Ernest Giralt, head of the Peptides and Proteins Lab, who has many years of experience and is a recognised expert in peptide chemistry and new systems of through which to delivery drugs to the brain, such as peptide shuttles—molecules that have the capacity to carry the drug across the barrier that surrounds and protects the brain. Since the lab started its relation with these patients’ associations in 2013*, it has been developing another two projects into Friedrich’s Ataxia.