DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for C syndrome — 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 moduleC syndrome 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 c 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
CD96 molecule (CD96) — CD96 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 apo structuredrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 6ARQ · 2.88 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
The C syndrome, first described in siblings, has been assumed to follow autosomal recessive inheritance. A 2000 report describes a patient with findings consistent with C syndrome who was found to have a duplication of 3p using subtelomere probes. The authors note that in a few apparent cases chromosome anomalies have been described, and that new cytogenetic techniques remain important for defining the underlying cause of such multiple congenital anomaly/mental retardation conditions.
A 1990 report describes an 8-month-old girl with C syndrome and apparently normal development except for tasks hindered by her lower body abnormalities. The authors state that all but 2 of the reported patients with C syndrome have had severe mental retardation. They also offer a possible explanation for the palatal configuration.
A 1985 paper describes two sisters with mucopolysaccharidosis Sanfilippo type C syndrome. The authors emphasise that this diagnosis is easily overlooked due to subtle clinical and radiological deviations, but should be considered in any case of unspecific progressive mental retardation, especially when sleep disturbance, aggressivity and hyperactivity are prominent symptoms.
No clinical trial data, no treatment interventions, and no drug repurposing evidence exist in these abstracts. What is missing is any systematic effort to identify a drug target, fund a preclinical model, or design a trial that accounts for the genetic heterogeneity and small number of patients.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
American Journal of Medical Genetics · 2000 · 27 citations
Trisomy of 3pter in a patient with apparent C (trigonocephaly) syndrome
AbstractThe C syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) syndrome first described in sibs. The inheritance has been assumed to be autosomal recessive. Several authors have commented that the combination of anomalies found in the conditions suggest an underlying chromosomal anomaly and in a few apparent cases chromosome anomalies have been described. Our patient had findings consistent with the C syndrome and a duplication of 3p by use of subtelomere probes. This shows that new cytogenetic techniques continue to be important in defining the underlying cause of MCA/MR conditions.
American Journal of Medical Genetics · 1990 · 18 citations
C syndrome with apparently normal development
AbstractC syndrome is an autosomal recessive craniosynostosis syndrome with characteristic cranial, facial, palate, and joint abnormalities. All but 2 of the reported patients have had severe mental retardation. We report on an 8-month-old girl with C syndrome and apparently normal development except for tasks hindered by her lower body abnormalities. We also offer a possible explanation for the palatal configuration.
AbstractTwo sisters are described with mucopolysaccharidosis (MPS) Sanfilippo type C syndrome. This diagnosis is emphasized to be easily overlooked due to subtile clinical and radiological deviations, but should be considered in any case of unspecific progressive mental retardation, especially when sleep disturbance, aggressivity and hyperactivity are prominent symptoms.
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.
