DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for osteoglophonic dysplasia — 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 moduleOsteoglophonic dysplasia 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 osteoglophonic 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
fibroblast growth factor receptor 1 (FGFR1) — FGFR1 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 4-methylpiperazin-1-yldrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 5A46 · 2.63 Å · ligand 4-amino-5-fluoro-3-[5-(4-methylpiperazin-1-yl)-1H-benzimidazol-2-yl]quinolin-2(1H)-one (38O). Experimental structure, not a prediction.
What the evidence adds up to
Osteoglophonic dysplasia is an extremely rare skeletal dysplasia with autosomal dominant inheritance, caused by activating missense mutations in FGFR1. A 2017 report from India described the first mutation-proven case from that country, a 14-year-old girl with a c.1115G > A (p.Cys372Tyr) mutation in FGFR1. A 1996 report described a boy with the syndrome who had craniostenosis, bizarre expansile cystic lesions in the diaphyses, delayed tooth eruption, and progressive rib expansion. The 2017 girl presented with disproportionate short stature, craniosynostosis, a prominent supraorbital ridge, delayed teeth eruption, hypodontia, and multiple nonossifying bone lesions in the femur, tibia, and fibula. She had hypophosphataemia, a known association, and advanced bone age, which was previously unreported in this dysplasia.
The 1996 boy had manifestations not previously reported in osteoglophonic dysplasia: spontaneous fractures resulting in pseudoarthroses through cystic and dysplastic foci in his proximal femoral shafts and right humerus, pretibial dimples, hypospadias, marked rib expansion, and absence of significant vertebral abnormality. The 2010 report described a father and daughter with the condition, noting that bone defects usually resolved by adulthood but multiple tooth impaction could cause aesthetic and masticatory problems. Life expectancy depends on the degree of cranial malformation. Affected children have normal intelligence. Cytogenetic studies and routine laboratory tests were within normal limits in the 2010 case.
No treatment or intervention is discussed in any of these reports. What is missing is any clinical trial, any drug tested, any systematic natural history study with sufficient patient numbers, and any stratification by specific FGFR1 mutation type. Because the condition is extremely rare, no funded effort to develop or test a targeted therapy has been described in the published literature.
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 · 21 citations · open access
Osteoglophonic dysplasia: Review and further delineation of the syndrome
AbstractWe report on a boy with clinical and radiologic findings of osteoglophonic dysplasia. He had craniostenosis, "bizarre," expansile cystic lesions in the diaphyses, delayed tooth eruption, and progressive rib expansion typical of the syndrome. Initially delayed psychomotor development with later normal intelligence, early feeding and breathing difficulty, and speech delay are also characteristic of the disorder. Manifestations, not previously reported in osteoglophonic dysplasia, present in the propositus are spontaneous fractures resulting in pseudoarthroses through cystic and dysplastic foci in his proximal femoral shafts and right humerus, pretibial dimples, hypospadias, marked rib expansion, and absence of significant vertebral abnormality. These findings expand the spectrum of osteoglophonic dysplasia.
Journal of Pediatric Genetics · 2017 · 17 citations · open access
Osteoglophonic Dysplasia: Phenotypic and Radiological Clues
AbstractAbstract Osteoglophonic dysplasia (OD) is an extremely rare, skeletal dysplasia with an autosomal dominant mode of inheritance. Rhizomelic dwarfism, craniosynostosis, impacted teeth, hypodontia or anodontia, and multiple nonossifying bone lesions are the salient features of this condition. We report a 14-year-old girl with clinical and radiological features consistent with OD. She presented with disproportionate short stature, craniosynostosis, a prominent supraorbital ridge, delayed teeth eruption, hypodontia, and multiple nonossifying bone lesions in the femur, tibia, and fibula. She had hypophosphatemia, which is a known association in this dysplasia. She also had advanced bone age, which is an unreported feature of this dysplasia. This condition is caused by activating mutations in FGFR1. A missense mutation was detected in the FGFR1, NM_001174067 (FGFR1_v001):c.1115G > A [p.(Cys372Tyr)] confirming the diagnosis; this is the first mutation-proven case to be reported from India.
Journal of Oral Science · 2010 · 8 citations · open access
Osteoglophonic dysplasia: a case report
AbstractWe report a rare case of osteoglophonic dysplasia affecting father and daughter. Osteoglophonic dysplasia is a very rare skeletal dysplasia with craniosynostosis, multiple radiolucencies of bone and clinical anodontia. It is an autosomal dominant disorder characterised by short stature. The affected children have normal intelligence. Close association with missense mutation of fibroblast growth factor receptor-1 has been reported. Life expectancy depends on the degree of cranial malformation. In previous reports, bone defects usually resolved by adulthood, but multiple tooth impaction may cause aesthetic and masticatory problems. Cytogenetic studies and routine laboratory tests were all within normal limits.
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.
