By Jonathan D. Rockoff
If you havent heard of Stargardt disease, its not because it isnt serious.
The condition results in blindness, theres no approved treatment and there are few options for delaying the damage it progressively wreaks. But it only afflicts 1 out of every 10,000 children, or some 25,000 Americans, according to the American Macular Degeneration Foundation.
Nevertheless, research into a remedy is under way, spurred by the discovery, in 1997, of a gene defect that appears to play an important role in the diseases genesis. Further study is shining a light into how it operates.
The research is providing some hope that Stargardt sufferers could gain an effective treatment, like patients with another rare and previously intractable disorder caused by a single gene defect: cystic fibrosis.
I was struck with the parallels, says Joshua Boger, the founder and retired CEO of Vertex Pharmaceuticals, which recently launched a treatment for a rare form of cystic fibrosis and is working on another for a more common form of the disease.
Boger today becomes executive chairman of one of the small firms looking into a potential Stargardt therapy, signaling his confidence in the promise of research into a treatment.
The firm hes joining is Alkeus Pharmaceuticals, which expects to start studying a potential Stargardt treatment in humans later this year, or early next. Others looking into a possible remedy are Advanced Cell Technology and Oxford BioMedica, supported by the Foundation Fighting Blindness.
Its really below the radar of the big companies, so without an entrepreneur, without someone pushing this, it wasnt going to get attention, Boger says.
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Lessons From One Genetic Disorder Raise Hopes for Treating Another, Rarer One
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