DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for EEC 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 moduleEEC 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 eec 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
tumor protein p63 (TP63) — TP63 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 7Z7E · 1.8 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
The EEC syndrome is defined by the triad of ectrodactyly, ectodermal dysplasia, and cleft lip with or without cleft palate. A 1996 literature study of 230 published cases confirmed that lacrimal tract abnormalities and urogenital abnormalities are part of the syndrome, while mental retardation and various ear and face dysmorphisms were judged not to be core features. Conductive hearing loss was associated with clefting. A severity score was developed, and isolated cases were generally more severely affected than familial cases. No evidence of genomic imprinting or anticipation was found, but interfamilial variability was significantly larger than intrafamilial variability, suggesting genetic heterogeneity. The penetrance of the EEC mutation was estimated between 93% and 98% in that analysis.
A 1974 report described six new cases, five white and one black male, with four of the six patients being female, including two sisters. A 1988 family report described oligosymptomatic EEC syndrome: the mother had most symptoms, one son had minimal ectrodactyly and a highly arched palate, and one daughter showed only a unilateral stiff thumb. In that family the penetrance was judged to be reduced to about 78%, lower than the earlier estimate.
A 2020 study used whole-exome sequencing on a male fetus suspected of EEC syndrome and found a heterozygous c.673C>T missense variant of the TP63 gene, which was not present in either parent. The authors concluded this variant probably underlies the syndrome and expanded the phenotypic spectrum for that variant. No other abstracts report any drug treatment, intervention, or clinical trial for EEC syndrome.
What is still missing is any clinical trial testing a drug for EEC syndrome, any funded research into pharmacological intervention, and any patient stratification strategy that might identify which genetic variants are amenable to treatment. The literature remains entirely descriptive.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Clinical Dysmorphology · 1996 · 156 citations
The EEC syndrome: a literature study
AbstractAnalysis of 230 published cases of the EEC syndrome revealed that, besides the cardinal symptoms (ectrodactyly, ectodermal dysplasia and clefting), lacrimal tract abnormalities and urogenital abnormalities are part of this syndrome. Mental retardation and various abnormalities and dysmorphisms of the ears and face, reported in EEC syndrome, do not really seem to be part of it. Conductive hearing loss is associated with clefting. A score for the severity of symptoms in the EEC syndrome is described, and using this score it appears that isolated cases are generally more severely affected than familial cases. We did not find signs of genomic imprinting or anticipation in published EEC families. We did find, however, that interfamilial variability is significantly larger than intrafamilial variability, pointing to genetic (allelic?) heterogeneity. The penetrance of the EEC-mutation is estimated to be between 93% and 98%.
Archives of Pediatrics and Adolescent Medicine · 1974 · 40 citations
The EEC Syndrome
AbstractThe term EEC syndrome consists of ectrodactyly (E), ectodermal dysplasia (E), and cleft of the lip and palate (C). The purpose of this report is to describe six new cases of the EEC syndrome. Five of the patients are white and one is a male black. Four of the patients are female and two are male. Two of the four female patients are sisters.
AbstractWe report a family with oligosymptomatic EEC syndrome. Whereas the mother had most symptoms of this syndrome, one son presented a minimal ectrodactyly and a highly arched palate and one daughter showed only a unilateral stiff thumb. The variability of this syndrome is discussed. The penetrance of this dominantly inherited disorder is judged to be reduced to about 78%.
[Identification of a Tp63 gene variant in an abortus with Ectrodactyly, Ectodermal dysplasia, Cleft lip/palate syndrome by whole-exome sequencing].
AbstractOBJECTIVE: To detect potential variant in a male fetus suspected for Ectrodactyly, Ectodermal dysplasia, Cleft lip/palate (EEC) syndrome. METHODS: Peripheral blood samples of the fetus and his parents were collected for the extraction of DNA. Whole-exome sequencing was carried out to detect potential variants. Suspected variants were verified by Sanger sequencing. RESULTS: The fetus was found to carry a heterozygous c.673C>T missense variant of the Tp63 gene, which was known to underlie split-hand/split-foot malformation. The same variant was not found in either parents. CONCLUSION: The heterozygous c.673C>T missense variant of the Tp63 gene probably underlies the EEC syndrome in the fetus. Above finding also expanded the phenotypic spectrum for this variant.
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.
