Rare & Orphan Lab · DeCure for X

DeCure for Otospondylomegaepiphyseal dysplasia

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for otospondylomegaepiphyseal dysplasia — 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:0080026$DeCureRare

The disease map

Disease moduleOtospondylomegaepiphyseal dysplasia 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 otospondylomegaepiphyseal dysplasia 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.

JBJS Case Connector · 2020 · 4 citations

Otospondylomegaepiphyseal Dysplasia

AbstractCASE: We present a long-term follow-up on a woman with otospondylomegaepiphyseal dysplasia (OSMED). At the age of 46 years, she is one of the oldest patients with the syndrome in the literature to date. We focus on the musculoskeletal anatomy and orthopaedic interventions over her lifetime. CONCLUSION: OSMED is a very rare syndrome. Arthritis and joint pains presented in her early adolescence and progressed to the point of requiring joint replacements by her 20s. Early intervention and monitoring improved the quality of life for this patient.

https://doi.org/10.2106/jbjs.cc.20.00140
Journal of Medical Cases · 2016 · 0 citations · open access

Clinical and Radiological Diagnosis of Rarely Seen OSMED Syndrome

AbstractOtospondylomegaepiphyseal dysplasia (OSMED) (MIM 215150) is an autosomal recessive syndrome. It is a skeletal dysplasia characterized by multiple skeletal anomalies, flat nasal bridge, mid-face hypoplasia, anteverted nostrils and sensorineural hearing loss. In this case report, we evaluated a 3-year-old Turkish girl born to consanguineous parents. She had a medical history of bilateral sensorineural hearing loss, frontal bossing and strabismus. The radiographic findings supported OSMED syndrome with her phenotype. Our aim was to facilitate the early diagnosis of this rarely seen syndrome and to contribute to the natural history of patients with OSMED syndrome. J Med Cases. 2016;7(5):161-163 doi: http://dx.doi.org/10.14740/jmc2431w

https://doi.org/10.14740/jmc2431w

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.