DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for orofaciodigital syndrome I — 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 moduleOrofaciodigital syndrome I 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 orofaciodigital syndrome i 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 orphan disease with a reported prevalence between 1:50,000 and 1:250,000. It is inherited in an X-linked dominant manner and primarily affects females, with lethality in the vast majority of affected males. The syndrome arises from defects in the formation of primary cilia, and mutations in the OFD1 gene show significant genetic heterogeneity and clinical variability among patients. One 2007 report of twin sisters identified a previously unreported causative mutation, a nucleotide change 243C>G leading to the missense mutation H81Q in exon 3 of the OFD1 gene.
The syndrome is characterised by craniofacial, oral, and digital anomalies, along with involvement of internal organs including the kidneys. A 1992 case reported a girl with orofaciodigital syndrome type I who had cystic kidney disease at eight months of age, which the authors stated had not previously been reported in an infant with the syndrome. That same patient also had unilateral tibial pseudarthrosis, a finding they noted had only rarely been reported in orofaciodigital syndromes and previously only in type II. A 2013 case of a seven-year-old Indian girl with typical features of type I also presented with nephrocalcinosis.
No clinical trials of any drug therapy for orofaciodigital syndrome type I are described in these abstracts. The literature consists entirely of case reports and genetic analyses. There is no evidence of any pharmacological intervention being tested or any treatment outcome data such as survival or response rates. What is missing is any funded research into drug repurposing, any clinical trial design, and any systematic patient stratification by specific OFD1 mutation or organ involvement.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
The Cleft Palate-Craniofacial Journal · 2007 · 13 citations
Buccal Anomalies, Cephalometric Analysis and Genetic Study of Two Sisters with Orofaciodigital Syndrome Type I
AbstractOrofaciodigital syndromes have many clinical and cephalometric anomalies, including facial irregularities, oral cavity abnormalities, and malformations of fingers and toes. In this case of twin girls, buccal exploration, cephalometric examination, and genetic analysis were performed to diagnose Orofaciodigital I or Orofaciodigital II syndrome. Clinically, the twins had several dental and skeletal irregularities. Genetic analysis revealed a DNA segment abnormality corresponding to exon 3 and presence of nucleotide change, 243C>G, leading to the missense mutation H81Q. This causative mutation associated with the OFD1 gene has not been reported previously. Both patients were diagnosed as having Orofaciodigital I syndrome.
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.
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