DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for isolated microphthalmia 7 — 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 moduleIsolated microphthalmia 7 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 isolated microphthalmia 7 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.
What the evidence adds up to
The five abstracts describe congenital syndromes and genetic variants associated with microphthalmia, but none report any drug treatment or therapeutic intervention. The 1947 paper is a single case report of sex-linked microphthalmia with no molecular data. The 1997 and 1999 papers describe the anophthalmia-esophageal-genital syndrome in a total of eight patients (one new case in 1997, two new cases in 1999, plus six previously reported), establishing the association of microphthalmia with esophageal atresia and cryptorchidism. No treatment is mentioned.
The 2018 association study in a western Indian population reports that the FOXE3-p.Ala170Ala T-allele and the PITX3-p.Ile95Ile C-allele may contribute to disease risk for congenital cataract and microphthalmia. The binding affinity calculations for the PITX3 C-allele and T-allele are given as -659.80 kcal/mol and -658.40 kcal/mol, respectively. This is a genetic association study, not a treatment trial.
The 2024 study identifies monoallelic missense variants in MAB21L1 as a cause of autosomal dominant microphthalmia in four individuals from one family, and reviews 13 additional families from the literature. Patients with a single-allele missense variant in MAB21L1 had only eye abnormalities, unlike the biallelic variant which causes cerebellar, ocular, craniofacial, and genital syndrome. The 2021 Chinese pedigree study found a heterozygous nonsense mutation c.289C>T (p.R97*) in OTX2 in three affected family members; the proband's mother carried the same mutation without microphthalmia, indicating reduced penetrance. No drug, no trial, no treatment is described in any of these abstracts.
What is missing: any drug-repurposing data, any clinical trial, any in vitro or in vivo drug testing, any patient stratification beyond genetic diagnosis, and any funding for therapeutic development. The literature remains entirely descriptive of genetic causes and syndromic associations.
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 · 1997 · 23 citations
Bilateral microphthalmia, esophageal atresia, and cryptorchidism: The anophthalmia-esophageal-genital syndrome
AbstractWe report on a male infant with bilateral microphthalmia, esophageal atresia, and cryptorchidism. To our knowledge only 4 cases with a similar combination of congenital abnormalities have been previously reported, and it is likely that this represents a distinct entity. We suggest the name "anophthalmia-esophageal-genital-syndrome."
AbstractA CASE OF SEX-LINKED MICROPHTHALMIA Get access F. E. STEPHENS F. E. STEPHENS University of UtahSalt Lake City Search for other works by this author on: Oxford Academic PubMed Google Scholar Journal of Heredity, Volume 38, Issue 10, October 1947, Pages 307–310, https://doi.org/10.1093/oxfordjournals.jhered.a105655 Published: 01 October 1947
Journal of Ophthalmic and Vision Research · 2018 · 4 citations · open access
Association of FOXE3-p.Ala170Ala and PITX3-p.Ile95Ile polymorphisms with congenital cataract and microphthalmia
AbstractPURPOSE: -p.Ile95Ile (rs2281983) polymorphisms with congenital cataract and microphthalmia in a western Indian population. METHODS: -p.Ala170Ala and PITX3-p.Ile95Ile was performed. RESULTS: -p.Ile95Ile C-allele (-659.80 kcal/mol) and T-allele (-658.40 kcal/mol). CONCLUSION: -p.Ala170Ala 'T' allele could further contribute towards disease risk.
Monoallelic missense variants in <i>MAB21L1</i> cause a novel autosomal dominant microphthalmia
AbstractPurpose The biallelic variant of MAB21L1 has previously been documented in conjunction with the autosomal recessive cerebellar, ocular, craniofacial, and genital syndrome (COFG). The purpose of this study was to investigate the gene-disease association of MAB21L1 and the newly discovered autosomal dominant (AD) microphthalmia.Methods We report the presence of an exceptionally rare missense variant in a single allele of the Arg51 codon of MAB21L1 among four individuals from a single family diagnosed with microphthalmia, which suggesting an autosomal dominant inheritance pattern. Subsequently, based on comprehensive literature review, we identified another 13 families that have reported cases of autosomal dominant microphthalmos.Results Genotype-phenotype analysis revealed that patients with a single allele missense variant in MAB21L1 exhibited solely eye abnormalities. This starkly diverged from the clinical presentation of COFG, typified by the concurrent occurrence of ocular and extraocular symptoms stemming from the biallelic variant in MAB21L1. Our findings revealed that the heterozygous pathogenic variant in MAB21L1 resulted in the emergence of autosomal dominant microphthalmia. By combining these genetic and experimental evidence, the clinical validity of MAB21L1 and the emerging autosomal dominant microphthalmia can be regarded as moderate.Conclusion In summary, there is sufficient convincing evidence to prove that MAB21L1 is a novel pathogenic gene responsible for autosomal dominant microphthalmia, thus offering valuable insights for precise diagnosis and targeted therapeutic interventions in cases of microphthalmia.
[Whole exome sequencing analysis and prenatal diagnosis for a Chinese pedigree affected with microphthalmia].
AbstractOBJECTIVE: To analyze clinical features and genetic cause for a Chinese pedigree affected with microphthalmia. METHODS: The proband and his parents were subjected to whole exome sequencing (WES) to identify potential pathogenic variants. Sanger sequencing was carried out to confirm the result of WES in available members from the pedigree. Prenatal diagnosis was provided to the proband's mother by genetic testing of amnionic DNA. RESULTS: A heterozygous nonsense mutation c.289C>T (p.R97*) was identified in the OTX2 gene among three patients from the pedigree by WES. The result was confirmed by Sanger sequencing. The proband's mother has carried the same mutation but did not have microphthalmia. The proband's father, aunt and the mother's fetus did not carry the mutation. CONCLUSION: The c.289C>T (p.R97*) mutation probably underlies the microphthalmia in this pedigree. Above result has facilitated genetic counseling and prenatal diagnosis.
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.
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