DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for orofaciodigital syndrome type 6 — screening already-approved drugs against its 7-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleOrofaciodigital syndrome type 6 maps to a 7-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 orofaciodigital syndrome type 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
phosphodiesterase 6D (PDE6D) — PDE6D 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 6rdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 4JV8 · 1.45 Å · ligand (6R)-6-(pyridin-2-yl)-5,6-dihydrobenzimidazo[1,2-c]quinazoline (1M1). Experimental structure, not a prediction.
What the evidence adds up to
No drug treatment is mentioned in any of the three abstracts. The 2012, 2013, and 2025 reports describe only the clinical features of orofaciodigital syndrome type I in three female patients aged 9, 7, and 12 years. The 2012 case was admitted for an unrelated complaint; polycystic kidneys were found on ultrasound. The 2013 case had nephrocalcinosis. The 2025 review states the prevalence is 1:50,000 to 1:250,000, that the syndrome is X-linked dominant, primarily affects females, and arises from defects in primary cilia formation. The 2025 article also notes significant genetic heterogeneity and clinical variability among patients with OFD1 gene mutations.
No trial, no drug, no intervention of any kind is reported. The abstracts contain no survival data, no response rates, and no sample sizes beyond single-case descriptions. The only concrete numbers are the prevalence range given in the 2025 review.
What is missing is any clinical trial, any tested drug, any animal model of drug treatment, and any proposal for a therapeutic strategy. The literature to date is limited to case descriptions and genetic characterisation. No funding for a drug-repurposing study, no trial design, and no patient stratification strategy has been reported for orofaciodigital syndrome type I.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Ear Nose & Throat Journal · 2012 · 6 citations · open access
Orofaciodigital Syndrome
AbstractOrofaciodigital syndrome is a very rare entity with X-linked dominant inheritance characterized by oral, facial, and digital anomalies. Thirteen different types have been described in the literature to date. Of these, orofaciodigital syndrome type I has the highest incidence. Renal and central nervous system malformations may accompany the oral, facial, and digital anomalies. We report a case of orofaciodigital syndrome type I in a 9-year-old girl. The patient was admitted with a complaint unrelated to the syndrome. The coexistence of an oral anomaly with a digital anomaly in this patient led us to search for other possible anomalies. Ultrasonography revealed a diagnosis of polycystic kidneys. Physicians must be mindful of the external appearance of patients with this syndrome and be aware of life-threatening anomalies possibly associated with it.
BMJ Case Reports · 2013 · 1 citations · open access
Rare case of orofaciodigital syndrome type I
AbstractOrofaciodigital syndrome (OFDS) is a group of congenital anomalies which affects the face, oral structures and digits. There are nine subtypes with different modes of inheritance. OFDS type I is an X-linked dominant trait with lethality in the vast majority of affected males. We report a case of OFDS type I in an Indian girl at the age of seven who had most of the typical features of OFDS type I and nephrocalcinosis.
Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) · 2025 · 1 citations · open access
Orofaciodigital syndrome type I in a twelve-year-old child
AbstractOrofaciodigital syndrome type I is a rare (orphan) disease with a prevalence of 1:50,000 to 1:250,000, characterized by craniofacial, oral, and digital anomalies, as well as involvement of internal organs, including the kidneys. Orofaciodigital syndrome type I is inherited in an X-linked dominant manner, primarily affecting females, and arises from defects in the formation of primary cilia. This article presents a clinical case of a 12-year-old patient diagnosed with orofaciodigital syndrome type I, along with a review of the pathogenic mechanisms and clinical manifestations of the syndrome based on literature data. The article demonstrates the significant genetic heterogeneity and clinical variability among patients with mutations in the OFD1 gene.
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.
