Rare & Orphan Lab · DeCure for X

DeCure for Autosomal dominant omodysplasia

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for autosomal dominant omodysplasia — screening already-approved drugs against its 1-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.

Disease module1 genesLead labRare & Orphan
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Rare & OrphanDOID:0080845$DeCureRare

The disease map

Disease moduleAutosomal dominant omodysplasia maps to a 1-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 autosomal dominant omodysplasia 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

frizzled class receptor 2 (FZD2)FZD2 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 pamdrag to rotate · scroll to zoom

RCSB Protein Data Bank · entry 7X8P · 2.24 Å · ligand PALMITOLEIC ACID (PAM). 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.

Clinical Case Reports · 2018 · 14 citations · open access

Two unrelated patients with autosomal dominant omodysplasia and <i>FRIZZLED2</i> mutations

AbstractKey Clinical Message Presented are two patients with autosomal dominant omodysplasia and mutations in the FZD2 gene. The mutations identified have been recently reported, suggesting the possibility of recurrent mutations. The phenotypes of these patients overlap with what has been previously reported, though intellectual disability as seen in our patient is not typical.

https://doi.org/10.1002/ccr3.1818
Zeitschrift für Geburtshilfe und Neonatologie · 2025 · 0 citations

Omodysplasie Typ II – Erstpublikation einer de novo Mutation im FZD2-Gen

AbstractZusammenfassung Die Omodysplasie Typ II (autosomal-dominant) ist eine sehr seltene Erkrankung, welche mit einer Skelettanomalie, fazialen Dysmorphie und urogenitalen Auffälligkeiten einhergeht. Kausal finden sich Alterationen im FZD2-Gen. Wir beschreiben einen pränatal detektierten Fall mit verkürzten oberen Extremitäten, Lippen-Kiefer-Gaumenspalte und Verdacht auf Genitalhypoplasie. Beim betroffenen Fetus wurde in der Literatur die noch nicht beschriebene de novo Mutation im Gen FZD2 nachgewiesen, die höchstwahrscheinlich ursächlich für die Symptomatik ist. Nach unserem Wissen, ist es die Erstpublikation der de novo Mutation im Gen FZD2.

https://doi.org/10.1055/a-2689-2624

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.