DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for orofaciodigital syndrome type 14 — 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 moduleOrofaciodigital syndrome type 14 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 orofaciodigital syndrome type 14 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
Orofaciodigital syndrome type I is a rare X-linked dominant disorder with a prevalence estimated between 1 in 50,000 and 1 in 250,000 live births. It primarily affects females because the mutation is lethal in most males. The syndrome is caused by defects in primary cilia formation due to mutations in the OFD1 gene, but there is significant genetic heterogeneity and clinical variability among patients with OFD1 mutations. No drug treatment is mentioned in any of the abstracts.
A 1992 case report describes a girl with orofaciodigital syndrome type I who had cystic kidney disease diagnosed at eight months of age, which the authors state had not previously been reported in an infant with the syndrome. She also had unilateral tibial pseudarthrosis, a finding they note has only rarely been reported in orofaciodigital syndromes and previously only in type II. A 2013 report describes a seven-year-old Indian girl with typical features of type I who also had nephrocalcinosis. A 2025 article presents a twelve-year-old patient and reviews the pathogenic mechanisms and clinical manifestations based on literature, but provides no new treatment data.
No clinical trial, no drug intervention, and no survival or response rate data are reported in any of these abstracts. The evidence consists entirely of single case descriptions spanning three decades. What is missing is any systematic study of drug repurposing, any preclinical model work testing a specific compound, any patient stratification by OFD1 mutation type, and any funding for a clinical trial. The natural history of the renal disease and the timing of interventions remain uncharacterised in a prospective cohort.
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 Medical Genetics · 1992 · 3 citations · open access
Orofaciodigital syndrome type I in a girl with unilateral tibial pseudarthrosis.
AbstractThe orofaciodigital syndromes are a group of possibly seven different malformation syndromes including oral, facial, and digital malformations. Type I has X linked dominant inheritance whereas the other types show autosomal recessive inheritance. An exact diagnosis is therefore important for genetic counselling. We here report a girl with orofaciodigital syndrome type I. She had cystic kidney disease at the age of 8 months which has not previously been reported in an infant with orofaciodigital syndrome. In addition she had unilateral tibial pseudarthrosis which has only rarely been reported in the orofaciodigital syndromes and in type II only.
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.
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.
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.
