DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for familial expansile osteolysis — 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 moduleFamilial expansile osteolysis 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 familial expansile osteolysis 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.
What the evidence adds up to
Familial expansile osteolysis is a rare bone dysplasia transmitted as an autosomal dominant trait. A 1994 linkage study of a large Northern Irish kindred mapped the causative gene to chromosome 18q21.1-q22, with a maximum lod score of 11.53 at a recombination fraction of 0.00 with marker D18S64. The gene is flanked by D18S35 and D18S61. The same paper noted that mapping this locus might have implications for Paget's disease of bone, a related but common bone dysplasia.
A 2015 Australian case report described a 42-year-old man presenting to an emergency department. The authors stated that familial expansile osteolysis is similar in some respects to Paget's disease but distinct enough in its clinical, radiological and histological findings to be classified separately. The disease is typified by increased osteoclast activity, medullary expansion, and hearing and dental problems, leading to bone pain and pathological fractures. The authors reported that to their knowledge no cases had previously been documented in Australia.
A 2010 review noted that a mutation in the RANK gene had been identified in familial expansile osteolysis, placing it among genetic disorders of the RANKL-RANK-OPG signalling system, which regulates osteoclast differentiation, activation and cell death. A 2005 report from the Czech Republic described a patient with an unusually extensive clinical course involving most of the peripheral skeleton and the skull, and documented that the disease occurs in childhood, not only in adults. That paper also stated that worldwide the syndrome had previously been observed in only three kinships and two unrelated American individuals.
What is still missing is any clinical trial testing a treatment for this disease. The literature consists entirely of genetic linkage studies, case reports, and reviews of the RANK pathway. No drug has been tested in a controlled fashion. The small number of known affected families makes recruitment for any trial difficult, and no funding mechanism for such a rare condition is described in these abstracts. Patient stratification by specific RANK mutation has not been attempted in a therapeutic context.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Human Molecular Genetics · 1994 · 118 citations
Genetic linkage of familial expansile osteolysis to chromosome 18q
AbstractFamilial expansile osteolysis is a rare bone dysplasia which is transmitted as an autosomal dominant trait in a large kindred in Northern Ireland. The gene which causes the disease shows tight linkage with several polymorphic markers on chromosome 18q with a maximum lod score of 11.53 at a recombination fraction of 0.00 with D18S64. The gene is flanked by D18S35 and D18S61 and is located at chromosome 18q21.1-q22. Mapping a new locus for a gene involved in regulation of bone metabolism may also have implications in the study of Paget's disease of bone which is a common related bone dysplasia.
Journal of Medical Imaging and Radiation Oncology · 2015 · 4 citations
Familial expansile osteolysis: An <scp>A</scp>ustralian case report of a <scp>P</scp>aget's <scp>D</scp>isease <scp>M</scp>imic
AbstractWe report a case of familial expansile osteolysis (FEO) with multimodality imaging findings and histopathological correlation in a 42-year-old man presenting to a South Australian Emergency Department. FEO is a unique metabolic bone condition that is similar in some respects to Paget's disease but distinct enough in its clinical, radiological and histological findings to be classified as a separate disease process. It is inherited in an autosomal dominant pattern and typified by increased osteoclast activity, medullary expansion, and hearing and dental problems. These changes can lead to significant morbidity with individuals affected suffering from bone pain and pathological fractures. To the best of the authors' knowledge, there are no reported cases in the literature documenting this disease in Australia.
[Cytokines in bone diseases. Genetic disorders of RANKL-RANK-OPG system].
AbstractIt is now widely recognized that the RANKL-RANK-OPG signaling system plays an important role in the differentiation, activation and cell death of osteoclasts. Recently, several genetic disorders involving the RANKL-RANK-OPG system have been discovered. In this article, we would like to show a brief review on a genetic disorder familial expansile osteolysis (FEO) , in which RANK gene mutation was identified, and other genetic disorders of the RANKL-RANK-OPG system.
Dialnet (Universidad de la Rioja) · 2005 · 2 citations
Ante un escenario cambiante. Repensemos la publicidad
AbstractFamilial expansile osteolysis (FEO, MIM174810) is a rare syndrome which was observed world-wide in only three kinships and in two unrelated American individuals. We report a patient with familial expansile osteolysis from the Czech Republic, not related to the previously reported cases. This patient's extraordinary clinical course does not conform to the ordinary. Her radiographic bone involvement was unusually extensive, involving most of the peripheral skeleton and the skull. This case documents that familial expansile osteolysis is not only a disease of adults but does occur in childhood.
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.
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