DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for microphthalmia, syndromic 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 moduleMicrophthalmia, syndromic 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 microphthalmia, syndromic 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
BCL6 corepressor (BCOR) — BCOR 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 8HCU · 2.2 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
A 2011 study of a Chinese family with autosomal-dominant congenital simple microphthalmia found linkage to a 21.57-cM interval on chromosome 17p12-q12, with a maximum LOD score of 4.97 at marker D17S1824. No mutation or copy number variation was identified in 14 candidate genes, including CRYBA1 and NCOR1, that could explain the phenotype. The same research group had earlier reported a different Chinese pedigree with autosomal-dominant simple microphthalmia mapping to a 15-cM interval on chromosome 2q11-14, with a maximum LOD score of 3.290 at marker D2S2265. That 2013 paper noted that the genetic basis of nonsyndromic microphthalmia was not yet fully understood and that pedigrees from different genetic backgrounds could involve completely different gene loci.
A 2016 case report described a 4-year-old Colombian male with bilateral microphthalmia, short stature, neurodevelopmental delay, genital anomalies, and maternal exposure to glyphosate during pregnancy. Genetic testing found a previously reported pathogenic heterozygous mutation in the SOX2 gene, confirming syndromic microphthalmia-3. The authors stated that whenever a patient presents bilateral microphthalmia, genetic testing should be performed to enable effective genetic counselling.
No drug or treatment is mentioned in any of these abstracts. The 2011 and 2013 studies identified linkage regions but did not find the causative mutations, so no molecular target for intervention has been established. The 2016 case report confirms a known SOX2 mutation but offers no therapeutic approach. What is still missing is the identification of the actual disease-causing genes within the linked intervals, larger and more diverse patient cohorts to clarify the genetic heterogeneity, and any preclinical or clinical work aimed at modulating the affected developmental pathways.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
A Novel Locus for Congenital Simple Microphthalmia Family Mapping to 17p12-q12
AbstractPURPOSE: To investigate the etiology in a family with autosomal-dominant congenital simple microphthalmia of Chinese origin. METHODS: A whole-genome scan was performed by using 382 microsatellite DNA markers after the exclusion of reported candidates linked to microphthalmia. Additional fluorescent markers were genotyped for fine mapping. To find out the novel predisposing gene, 14 candidate genes including CRYBA1 and NCOR1 were selected to screen for the mutation by the PCR direct-sequencing method. Genome-wide single-nucleotide polymorphism (SNP) genotyping was performed to find out the pathogenetic copy number variation, as well. RESULTS: The most statistically significant linkage results were obtained at D17S1824 (maximum LOD score, 4.97, at recombination fraction 0.00). Haplotype analyses supported the location of the disease-causing gene to a 21.57-cM interval between loci D17S900 and D17S1872 of chromosome 17, region p12-q12. However, no mutation or CNV (copy number variation) was identified to be responsible for the microphthalmia phenotype of this pedigree. CONCLUSIONS: A novel suggestive linkage locus for congenital microphthalmia was detected in a Chinese family. This linkage region provides a target for susceptibility gene identification.
Congenital Anomalies · 2016 · 6 citations · open access
Syndromic microphthalmia‐3 caused by a mutation on gene SOX2 in a Colombian male patient
AbstractSyndromic microphthalmia-3 is a rare congenital syndrome associated with brain anomalies, esophageal atresia and genital anomalies. This is the case of a 4-year-old male with bilateral microphthalmia, short stature, neurodevelopmental delay, genital anomalies, and maternal exposition to glyphosate during pregnancy. Genetic testing detected a previously reported pathogenic heterozygous mutation in the SOX2 gene, confirming a diagnosis of syndromic microphthalmia-3. Whenever a patient presents bilateral microphthalmia, it is necessary to determine whether it is isolated or syndromic; afterwards, genetic testing should be performed in order to offer an effective genetic counseling.
Gazette du palais: Recueil bimestral · 2013 · 0 citations
La saise des bateaux: une mesure d'exécution de nouveau à flot
AbstractMicrophthalmia is a clinically and genetically heterogeneous disorder of eye development. The genetic basis of nonsyndromic microphthalmia is not yet fully understood. Previous studies indicated that disease pedigrees from different genetic backgrounds could be attributed to completely different gene loci. To investigate the etiology in a large autosomal-dominant inherited simple microphthalmia (nanophthalmia) pedigree, which is the first genetically analyzed Chinese microphthalmia pedigree, we performed a whole-genome scan using 382 micro-satellite DNA markers after the exclusion of reported candidates associated with microphthalmia. Strong evidence indicated that microphthalmia in this family was mapped to an unreported new locus on chromosome 2q. A significantly positive two-point LOD score was obtained with a maximum 3.290 at a recombination fraction of 0.00 for marker D2S2265. Subsequent haplotype analysis and recombination data further confined the disease-causing gene to a 15-cM interval between D2S1890 and D2S347 on 2q11-14. Our results further underlined the degree of heterogeneity in microphthalmia from Chinese background and localized a novel gene which regulates eye embryogenesis.
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.
