Rare & Orphan Lab · DeCure for X

DeCure for Epiphyseal dysplasia, multiple, 6

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for epiphyseal dysplasia, multiple, 6 — 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:0070301$DeCureRare

The disease map

Disease moduleEpiphyseal dysplasia, multiple, 6 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 epiphyseal dysplasia, multiple, 6 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

collagen type II alpha 1 chain (COL2A1)COL2A1 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 p33drag to rotate · scroll to zoom

RCSB Protein Data Bank · entry 5NIR · 1.74 Å · ligand 3,6,9,12,15,18-HEXAOXAICOSANE-1,20-DIOL (P33). 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 Orthopaedics and Related Research · 1976 · 40 citations

The Epiphyseal Dysplasias

AbstractThe epiphyseal dysplasias are a group of heterogeneous disorders characterized by defective or excessive bone formation in the secondary ossification centers of the tubular bones and sometimes the vertebrae. Most of them are caused by the defective action of mutant genes. Their pathogenesis is unknown. Differentiation of the various entities in this group is essential for the proper management and genetic counseling of the patients.

https://doi.org/10.1097/00003086-197601000-00007
Journal of Korean Medical Science · 2010 · 17 citations · open access

Autosomal Recessive Multiple Epiphyseal Dysplasia in a Korean Girl Caused by Novel Compound Heterozygous Mutations in the DTDST (SLC26A2) Gene

AbstractMultiple epiphyseal dysplasia is caused by heterogeneous genotypes involving more than six genes. Recessive mutations in the DTDST gene cause a phenotype of recessive multiple epiphyseal dysplasia (rMED). The authors report a 9-yr old Korean girl with the rMED phenotype having novel compound heterozygous mutations in the DTDST gene, which were inherited from both parents. This is the first Korean rMED case attributed to DTDST mutations, and expands the spectrum of diseases caused by DTDST mutations.

https://doi.org/10.3346/jkms.2010.25.7.1105

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.