Perlara’s Cure Odysseys

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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…
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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…
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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…
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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…
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Laura DeFrancesco
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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…
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Ethan O. Perlstein, Ph.D.
1
ECHS1 Cure Odyssey
Fibroblasts and flies joined forces in a multi-species drug repurposing campaign that yielded p38 MAPK inhibitors as top rescuers for this ultra-rare…
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Ethan O. Perlstein, Ph.D.
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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