Restoring balance to the flux
CDGs are a 200+ gene family of inherited metabolic diseases, GMPPA-CDG and SRD5A3-CDG to name a few. Turns out GMPPA deficiency is rescued by SRD5A3 deficiency 🤯. Two genetic wrongs can make a right.
Perlara’s Cure Odysseys
Stories from pioneering families battling genetic diseases at the frontier of precision medicine.
Dormant Last read · last published · next check
Read 1 day ago and current, but nothing has been published for 13 months.
Latest posts
FBXO31 Cure Roadmap
The first step toward a cure is a treatment, and the first step toward a treatment is a research roadmap.
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 aka fat-soluble vitamin C - and it's working!
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 family-initiated, family-led pioneer N-of-1 study.
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 yielding results after 12 weeks of NMN treatment.
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 designer pharmacological chaperones using GenAI.
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 her genetic disorder.
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 combination treatment is working.
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 mitochondrial disease.
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 and fund a comprehensive 8,400-compound screen.