Perlara’s Cure Odysseys

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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.
Two nutraceuticals are the top drug repurposing hits for ALG11-CDG
An initial pioneer ALG11-CDG family blazed a trail with a pilot 2,200-compound screen, paving the way for a second ALG11-CDG family to grab the baton…
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Ethan O. Perlstein, Ph.D.
Biomarker discovery for FAM177A1
When a disease is both rare and new to medicine, the only recourse is research. FAM177A1 Research Fund is excited to shared preliminary results from a…
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Ethan O. Perlstein, Ph.D.
FOXG1 Cure Odyssey
A mother’s “darkest days” leads to a foundation and a magazine dedicated to families caring for children with rare diseases.
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Laura DeFrancesco
 and 
Ethan O. Perlstein, Ph.D.
1
Unexpected PLOD1 twist
Collagen is a slippery eel. After trying and failing to visualize collagen inside PLOD1-kEDS fibroblasts, we pivoted to measuring collagen secreted by…
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Ethan O. Perlstein, Ph.D.
The Anti-Portfolio of Pharma
The unlikely intersection of overlooked diseases, overlooked assets and overlooked founders is the place we've called home for the past 10 years. When…
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Ethan O. Perlstein, Ph.D.
4
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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