DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Donnai-Barrow syndrome — 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 moduleDonnai-Barrow syndrome 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 donnai-barrow syndrome 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
LMBR1 domain containing 1 (LMBRD1) — LMBRD1 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 atpdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 24VC · 2.8 Å · ligand ADENOSINE-5'-TRIPHOSPHATE (ATP). 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.
Journal of Child Neurology · 2007 · 26 citations
Ocular Manifestations of Donnai-Barrow Syndrome
AbstractDonnai-Barrow syndrome is a rare autosomal recessive disorder first described in 1993. This report presents ocular manifestations of this rare autosomal recessive disorder through 2 additional cases. Ocular features include hypertelorism, down-slanting palpebral fissures, iris coloboma, high myopia, and retinal detachment. The extreme congenital myopia in these patients is a significant risk factor for retinal detachment, and prophylactic barrier photocoagulation may be considered to prevent retinal detachment and its associated functional disability.
Cochlear Implants International · 2011 · 8 citations
Cochlear implantation in Donnai–Barrow syndrome
AbstractOBJECTIVE AND IMPORTANCE: Donnai-Barrow syndrome is a rare autosomal recessive disorder associated with severe sensorineural hearing loss (SNHL). Several ocular abnormalities have also been described in this syndrome, including hypertelorism, down-slanting palpebral fissures, myopia and retinal detachment. The condition is also associated with diaphragmatic hernia, exomphalos, absent corpus callosum and developmental delay. We describe the first recorded case of cochlear implantation in this rare disorder. CLINICAL PRESENTATION: This case of Donnai-Barrow syndrome was identified from our paediatric cochlear implant database. A case-note review was performed identifying patient demographics, operative findings and surgical outcome. In addition, pre- and post-operative auditory and communication performance was analysed. INTERVENTION: The child initially received a right cochlear implant at 39 months of age, but unfortunately the device failed 4 years post-operatively. Subsequently, bilateral simultaneous cochlear implantation was performed. BKB scores were 98% for bilateral implant use when tested 2 years post-operatively. Individual testing revealed a score of 94% for the right ear alone, and 80% for the left. The child achieved a 100% score on sound localisation testing using 3 speakers. CONCLUSIONS: Donnai-Barrow syndrome is a rare cause of SNHL compounded by the potential for visual impairment. To our knowledge this is the first report of cochlear implantation to rehabilitate hearing loss in this condition.
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.
