DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Aland island eye disease — screening already-approved drugs against its 2-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleAland island eye disease maps to a 2-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 aland island eye disease 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.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Genes · 2021 · 16 citations · open access
A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness
AbstractBackground: CACNA1F-related disorders encompass progressive and non-progressive disorders, including Åland island eye disease and incomplete congenital stationary night blindness. These two X-linked disorders are characterized by nystagmus, color vision defect, myopia, and electroretinography (ERG) abnormalities. Ocular hypopigmentation and iris transillumination are reported only in patients with Åland island eye disease. Around 260 variants were reported to be associated with these two non-progressive disorders, with 19 specific to Åland island eye disease and 14 associated with both Åland island eye disease and incomplete congenital stationary night blindness. CACNA1F variants spread on the gene and further analysis are needed to reveal phenotype-genotype correlation. Case Report: A complete ocular exam and genetic testing were performed on a 13-year-old boy. A novel splice-site variant, c.4294-11C>G in intron 36 in CACNA1F, was identified at hemizygous state in the patient and at heterozygous state in his asymptomatic mother and explained the phenotype synonymous with Åland island eye disease and incomplete congenital stationary night blindness observed in the patient. Conclusion: We present a novel variant in the CACNA1F gene causing phenotypic and electrophysiologic findings indistinguishable from those of AIED/CSNB2A disease. This finding further expands the mutational spectrum and our knowledge of CACNA1F-related disease.
Ophthalmic Genetics · 2025 · 2 citations · open access
Ȧland Island eye disease in two patients harboring novel <i>CACNA1F</i> variants
AbstractȦland Island eye disease (ȦIED) is a rare X-linked recessive condition caused by mutations in the CACNA1F gene. The ȦIED phenotype involves an overlap of canonical features of ocular albinism and congenital stationary night blindness (CSNB), thereby presenting a diagnostic challenge. Genetic testing often cannot distinguish between ȦIED and CSNB, as many mutations in CACNA1F are known to cause either ȦIED, CSNB, or conditions with ambiguous phenotypes along the ȦIED/CSNB continuum. Therefore, it is necessary to expand the landscape of CACNA1F mutations responsible for this spectrum of conditions. We report two novel CACNA1F variants in patients with a clinical presentation of ȦIED, including low visual acuity, congenital nystagmus, high myopia, hypopigmented fundi, foveal hypoplasia, and choroidal thinning. Electroretinographic findings included decreased rod- and cone-mediated responses, electronegative mixed responses, as well as a novel finding of electronegative rod-mediated responses. While these patients’ presentations are consistent with ȦIED, future studies will be needed to determine whether these novel CACNA1F variants are exclusive to ȦIED or can cause phenotypes along the entire ȦIED/CSNB2A spectrum.
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.
