Perlara’s Cure Odysseys

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FBXO31 Cure Roadmap
The first step toward a cure is a treatment, and the first step toward a treatment is a research roadmap.
 • 
Ethan O. Perlstein, Ph.D.
Community medicine
A rebel alliance of rare parents united as the PIGN-CDG Cure Collective to fund a drug repurposing project. One of the top 3 hits is ascorbyl palmitate…
 • 
Ethan O. Perlstein, Ph.D.
All in the FAMily
An unbiased fly-powered drug repurposing screen for FAM177A1 deficiency turned up the generic ALS drug riluzole as the top hit and inspired a…
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Ethan O. Perlstein, Ph.D.
Fuel It Still
Boosting levels of the metabolic fuel NAD+ rescues DHDDS deficiency in a yeast avatar. 3 pioneer N-of-1 studies are now underway. Rosie's N-of-1 is…
 • 
Ethan O. Perlstein, Ph.D.
Repurposing is a gateway drug
A drug repurposing project for the ultra-rare mitochondrial disease MEPAN has yielded a clinical candidate and serendipitously illuminated a pathway to…
 • 
Ethan O. Perlstein, Ph.D.
NARS1 Cure Odyssey
A little girl who didn’t make it to her second birthday provided the inspiration for a foundation that is trying to make life better for those who share…
 • 
Laura DeFrancesco
 and 
Ethan O. Perlstein, Ph.D.
Yeast-powered drug repurposing screen ➡️ parent-driven N-of-1 study
In collaboration with a pioneer PIGW-CDG family, we identified two over-the-counter nutraceuticals as actionable hits from a yeast screen. The…
 • 
Ethan O. Perlstein, Ph.D.
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Perlara’s Cure Odysseys
Stories from pioneering families battling genetic diseases at the frontier of precision medicine.

Perlara’s Cure Odysseys

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