Rare & Orphan Lab · DeCure for X

DeCure for Acrofacial dysostosis, Weyers type

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for acrofacial dysostosis, Weyers type — 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 module2 genesLead labRare & Orphan
All cures
Rare & OrphanDOID:0111571$DeCureRare

The disease map

Disease moduleAcrofacial dysostosis, Weyers type 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 acrofacial dysostosis, weyers type 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

catenin beta 1 (CTNNB1)CTNNB1 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 prodrag to rotate · scroll to zoom

RCSB Protein Data Bank · entry 8Z10 · 2.35 Å · ligand PROLINE (PRO). 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 · 1984 · 36 citations

Acrofacial dysostosis with severe facial clefting and limb reduction

AbstractWe describe two unrelated patients with a severe form of acrofacial dysostosis. Facial defects in both include coloboma of the lids, micrognathia, lateral oral clefting, palatal clefting, and severe auricular anomalies, with one showing bilateral cleft lip and right oblique facial clefting as well. Both have absent forearms and thumbs. Lower limbs were severely reduced in both infants with the feet attached either to the femur or directly to the trunk. Parental consanguinity was present in one case. The condition in these two infants appears to represent either a severe form of Nager acrofacial dysostosis or a new type of acrofacial dysostosis.

https://doi.org/10.1002/ajmg.1320170314
Journal of Oral and Maxillofacial Pathology · 2014 · 2 citations · open access

Orodental findings in postaxial acrofacial dysostosis

AbstractWe report a new case of postaxial acrofacial dysostosis (Miller) syndrome with expanded profile. The patient presented with unusual orofacial and digital anomalies along with mental retardation. This report emphasizes the recognized features of the syndrome as well as describes intraoral findings that could aid in the diagnosis and management of these patients.

https://doi.org/10.4103/0973-029x.131947

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.