DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Potocki-Lupski syndrome — screening already-approved drugs against its 2-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease modulePotocki-Lupski syndrome maps to a 2-gene Open Targets module — the target space DeCure's AI scientist screens approved drugs against.
DeCure.ai methodSignature reversal (LINCS) plus network proximity (STRING) rank already-approved drugs likely to perturb this module — the same engine that produces DeCure.ai's repurposing hypotheses.
Repurposing thesisScreening approved medicines against this disease module, then publishing the evidence for the strongest candidate. Known pharmacology and human exposure data make the first question sharper — they do not establish safety or efficacy in a new indication.
Research record
01
ResearchComing soon
Candidate research + dossier — target rationale, drug-repurposing thesis and evidence pack.proof: Published dossier + on-chain hash
02
ValidationComing soon
In-vitro biological validation at a contract research org (CRO).proof: CRO contract + in-vitro report
03
Peer review & paperComing soon
Peer-reviewed paper published open-access (preprint + journal).proof: DOI + open-access link + on-chain hash
Current lead
No approved-drug candidate for potocki-lupski syndrome is corroborated in the literature DeepSearch retrieved. Some conditions are managed with non-pharmacological care — a device, surgery or physical therapy — rather than a medicine; that may be the case here, or the literature we found may simply be too sparse yet to support a drug-repurposing angle.
Molecular view
folliculin (FLCN) — FLCN is one of the genes genetically linked to this disease in Open Targets — shown as context, not as a drug target we're pursuing: no approved-drug candidate for this disease is yet corroborated in the literature we found.
Loading structure…
helix sheet gdpdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 6ULG · 3.31 Å · ligand GUANOSINE-5'-DIPHOSPHATE (GDP). Experimental structure, not a prediction.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Neuropediatrics · 2010 · 0 citations
De novo deletion 17p13.1 and duplication 17p11.2 in a seven months-old male infant with the clinical features of Potocki-Lupski syndrome
AbstractAims: Potocki-Lupski syndrome (PTLS [OMIM 610883]) is a contiguous gene syndrome caused by duplication of 17p11.2. PTLS overlaps with Smith-Magenis syndrome (SMS [OMIM 182290]), which is associated with deletion 17p11.2 and is characterised by muscular hypotonia, poor feeding, failure to thrive in infancy, developmental delay, vision and hearing impairment, autism, scoliosis, genitourinary and cardiovascular anomalies.
Brazilian Journal of Development · 2021 · 0 citations · open access
Diagnosis of de novo 17p11.2 microduplication - potocki-lupski syndrome identified by chromosomal microarray analysis: a case report / Diagnóstico de novo 17p11.2 microduplicação - potocki-lupski síndrome identificada por análise de microarray chromosomal: um relatório de caso
AbstractPotocki-Lupski Syndrome is a continuous gene syndrome caused by the microduplication of 3.7 Mb segment at 17p11.2 characterized by developmental delay, intellectual disability, the developmental deficit for psychomotor and expressive speech, autistic features, obsessive-compulsive behaviors, and attention deficit. Using CMA, we detected the first de novo 3.7 Mb microduplication at 17p11.2 in a boy with an intellectual disability from Central Brazil.
Disease module: DeepOracle (Open Targets). Structures: RDKit from PubChem SMILES. Literature: retrieved by DeepSearch across 234,678,978 indexed works (targeted per-candidate search), resolved on OpenAlex.
DeCure is a research and publication project, not medical advice and not a treatment. "DeCure for X" describes a research goal, not a claim that a cure exists. Backing a cure is a contribution to fund the research — it is not an investment, and confers no yield, royalty, equity or IP ownership. Papers are published open-access by the DeCure.ai DAO.
