DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for craniofrontonasal 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 moduleCraniofrontonasal 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 craniofrontonasal 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
ephrin B1 (EFNB1) — EFNB1 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 apo structuredrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 6THG · 4.074 Å · ligand none (apo structure). 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.
American Journal of Medical Genetics · 1996 · 68 citations
Craniofrontonasal syndrome: Study of 41 patients
AbstractOf 41 patients with craniofrontonasal syndrome, 35 were female and 6 were male. Although most cases were sporadic, 7 familial instances were found. Craniofrontonasal syndrome represents a unique, incompletely understood X-linked disorder. Unusual manifestations in females included thick, wiry, and curly hair (49%), anterior cranium bifidum (6%), axillary pterygia (9%), unilateral breast hypoplasia (postpubertal; 11%), and asymmetric lower limb shortness (14%).
Report of a family with craniofrontonasal syndrome
AbstractCraniofrontonasal syndrome (CFNS, OMIM 304110) paradoxically presents a severe phenotype in heterozygous females and a mild or a normal phenotype in hemizygous males. Hypertelorism is seen in almost all of the female CFNS patients; craniosynostosis, facial asymmetry, and bifid nose are the other major clinical features. Most of the males are mildly affected, frequently only with hypertelorism. Here, we report a family with a G151S mutation in the EFNB1 gene. The mutation was identified in two severely affected sisters and paradoxically in their clinically unaffected father. The father on whom we report is the first male patient genetically proved to carry a CFNS-causing mutation and not presenting any signs nor symptoms of CFNS.
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.
