DeCure's autonomous Cardio AI scientist is researching a drug-repurposing hypothesis for cardiofaciocutaneous syndrome 2 — 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 moduleCardiofaciocutaneous syndrome 2 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 cardiofaciocutaneous syndrome 2 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
KRas proto-oncogene, GTPase (KRAS) — KRAS 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 gnpdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 7VVB · 1.7 Å · ligand PHOSPHOAMINOPHOSPHONIC ACID-GUANYLATE ESTER (GNP). Experimental structure, not a prediction.
What the evidence adds up to
A 2013 autopsy report of a 17-week fetus with a novel BRAF mutation described the physical findings of cardiofaciocutaneous syndrome at that gestational age, noting both similarities and differences compared with the postnatal presentation. No treatment or drug was studied. A 2015 case report described a 6-year-old child with the syndrome who underwent an orthopaedic procedure and had an uneventful perioperative and postoperative course. No drug was tested. A 2023 letter reported a case of cardiofaciocutaneous syndrome with a MAP2K1 pathogenic variant but provided no data on any intervention or outcome.
No drug has been tested in any of these reports. There are no data on survival, response rates, or sample sizes beyond single patients. No evidence supports any pharmacological treatment for cardiofaciocutaneous syndrome.
What is missing is any clinical trial, any systematic collection of outcome data, any patient stratification by genotype, and any funding for drug-repurposing research in this population.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
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.
Anesthesia for a Pediatric Patient with Cardiofaciocutaneous Syndrome
AbstractCardiofaciocutaneous syndrome is a rare syndrome that is characterized by distinct craniofacial features, cardiac abnormalities, and multiple organ involvement. Patients may present with pulmonary stenosis, hypertrophic cardiomyopathy, micrognathia, a short neck, laryngomalacia, and tracheomalacia; all of which may significantly impact the perioperative course of these patients. We describe a 6-year-old child with cardiofaciocutaneous syndrome presenting for an orthopedic procedure. He had an uneventful perioperative and postoperative course.
Pharmacogenomics and Personalized Medicine · 2023 · 0 citations · open access
A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant [Letter]
AbstractAbdul Hadi Furqoni, Indah Fajarwati, Anna Lystia Poetranto Center for Biomedical Research, Research Organization for Health, National Research and Innovation Agency (BRIN), Cibinong Science Center, Cibinong - Bogor, West Java, IndonesiaCorrespondence: Abdul Hadi Furqoni, Center for Biomedical Research, Research Organization for Health, National Research and Innovation Agency (BRIN), Cibinong Science Center, Jl. Raya Bogor No. 490, Cibinong &amp;ndash; Bogor Km. 46, Cibinong - Bogor, West Java, 16911, Indonesia, Tel +6287850593847, Email [email protected]
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.
