DeCure's autonomous Cardio AI scientist is researching a drug-repurposing hypothesis for cardiofaciocutaneous syndrome — screening already-approved drugs against its 33-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleCardiofaciocutaneous syndrome maps to a 33-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 cardiofaciocutaneous 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
mitogen-activated protein kinase 1 (MAPK1) — MAPK1 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 2~{s}drag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 8AOJ · 1.12 Å · ligand 1-[(2~{S})-2-(5-methyl-3-pyridin-4-yl-1~{H}-pyrazol-4-yl)pyrrolidin-1-yl]propan-1-one (N8L). Experimental structure, not a prediction.
What the evidence adds up to
No drug treatment is tested or mentioned in any of the three abstracts. The 2002 paper proposes a clinical scoring system, the CFC index, to diagnose cardiofaciocutaneous syndrome and to distinguish it from Noonan and Costello syndromes, but notes that no single feature is pathognomonic or obligatory. The 2013 report describes autopsy findings in a single 17-week fetus carrying a novel BRAF mutation, comparing prenatal and postnatal expression of the syndrome. The 2019 paper presents a case report of a 9-year-old girl with typical craniofacial features, heart defects, ectodermal abnormalities, developmental delay, and spasticity, which the authors note is rare in CFC syndrome. No sample sizes beyond single cases are given, and no survival or response rates are reported because no intervention was studied.
The abstracts contain no evidence of any drug being repurposed, tested, or even discussed for cardiofaciocutaneous syndrome. The only molecular reference is to BRAF mutations and the RAS/MAPK pathway, but no pharmacological targeting of that pathway is described. The 2002 paper explicitly states that molecular studies were still in progress at that time, and the later papers do not report any therapeutic advances.
What is missing is any clinical trial, any drug intervention, any patient stratification by genotype, and any funding for treatment research. The literature to date consists entirely of diagnostic criteria, autopsy findings, and single case descriptions. No drug has been shown to alter the course of the disease in any patient.
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 · 2002 · 79 citations · open access
CFC index for the diagnosis of cardiofaciocutaneous syndrome
AbstractControversy exists concerning the delineation of cardiofaciocutaneous syndrome (CFC). Many authors have attempted to establish syndrome traits for CFC, but to date none are pathognomonic or obligatory. We have created a clinical and objective method, called the CFC index, for CFC diagnosis. This method also differentiates CFC from Noonan syndrome and Costello syndrome, CFC's main differential diagnosis. We propose the use of the CFC index for the confirmation of CFC diagnosis and to differentiate CFC from other phenotypically similar genetic conditions, while molecular studies are still in progress.
Pediatric and Developmental Pathology · 2013 · 4 citations
Fetal Autopsy Findings of Cardiofaciocutaneous Syndrome with a Unique <i>BRAF</i> Mutation
AbstractCardiofaciocutaneous (CFC) syndrome is a RASopathy phenotypically characterized by facial, cardiac, and ectodermal abnormalities. The extent to which this phenotype is expressed in the affected fetus is unclear, and a better understanding of the fetal autopsy findings in CFC syndrome could facilitate diagnosis and understanding of the developmental effects of dysregulated BRAF activity. Here we describe the fetal autopsy findings in a case of CFC syndrome in a 17-week fetus with a novel BRAF mutation that demonstrates potential similarities and differences with the postnatal presentation of CFC syndrome.
Neuromuscular Diseases · 2019 · 0 citations · open access
Cardiofaciocutaneus syndrome: literature review and case report
AbstractThe cardiofaciocutaneous syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. The syndrome is caused by molecular disturbances in the RAS/MAPK pathway. We report on the girl, 9 year-old, with the cardiofaciocutaneous syndrome presenting with typical craniofacial appearance, heart defects, ectodermal abnormalities, neglected orthopedic pathology, developmental delay and spasticity, which rare in this syndrome.
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.
