DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for visual pathway disorder — screening already-approved drugs against its 5-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleVisual pathway disorder maps to a 5-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
approvedDabrafenibApproved drug
Structures already discussed alongside visual pathway disorder in the retrieved literature, rendered from public PubChem SMILES. Which drugs appear here reflects the evidence found, not a ranked prediction.
Molecular view
Crystal structure of hPXR — Dabrafenib has a real, experimentally solved structure in complex with this target (PDB 6HJ2, 2.28 Å). This is the drug's own deposited structure, not a prediction, and confirms it is a structurally characterised molecule rather than an untested guess.
Loading structure…
helix sheet p06drag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 6HJ2 · 2.28 Å · ligand Dabrafenib (P06). Experimental structure, not a prediction.
What the evidence adds up to
A 2017 case series of ten patients from nine families with CNGB1-related retinitis pigmentosa found that first symptoms (night blindness) appeared in childhood, while measurable visual field loss was documented at a mean age of 33.2 years. Best-corrected visual acuity remained preserved into adulthood, with a mean of 0.1 logMAR (Snellen 20/25) in each eye and a range of 20/16 to 20/40. Optical coherence tomography showed complete preservation of the inner segment ellipsoid band in only one patient; the others had variable lateral extent of that band corresponding to a paracentral ring of increased autofluorescence. Electrophysiology in six patients confirmed a rod-cone dystrophy pattern. The authors concluded that the data suggest a lengthy window for intervention with novel therapies, but the sample is small, follow-up averaged only 3.7 years, and no treatment was tested.
A 2025 study integrated multiomic data to examine the functional relationship among inherited retinal disease genes. The authors found that binding sites and expression targets of the photoreceptor transcription factors Crx and Nrl were enriched in known IRD causal genes. Co-expression network analysis showed that IRD-centric networks were disrupted when Crx and Nrl were knocked out in mice. A core module of 14 IRD genes and 39 target genes was identified, of which 29 were dysregulated in rod photoreceptors across four different IRD mouse models. The study offers a network-based framework for identifying common mechanisms and prioritising genes for novel disease gene identification, but it is entirely computational and preclinical; no drug or intervention was tested in patients.
A 2024 systematic review and meta-analysis of repetitive transorbital alternating current stimulation (rtACS) for optic nerve damage included only three randomised controlled trials. The primary outcome, visual field detection accuracy, showed a significant improvement in the rtACS group compared to sham, with a pooled mean difference of 32.06 (95% CI 19.2 to 51.2, p=0.001, I²=0%). However, near and far visual acuity showed no statistically significant difference between groups. The review notes that safety data were limited and that effects on other visual outcomes were minimal. The authors call for further high-quality trials to corroborate the findings and provide a more comprehensive evaluation of efficacy and safety.
What is still missing: adequately powered, long-term randomised trials with standardised outcome measures for rtACS; validated biomarkers or patient stratification strategies for CNGB1-related RP; and any clinical translation of the network-based core module identified in the 2025 study, which remains entirely in silico and in mice. Funding for such trials and for the development of gene-agnostic therapies based on shared IRD mechanisms has not been secured.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
JAMA Ophthalmology · 2017 · 43 citations
Clinical Characterization of <i>CNGB1</i>-Related Autosomal Recessive Retinitis Pigmentosa
AbstractIMPORTANCE: There are limited published data on the phenotype of retinitis pigmentosa (RP) related to CNGB1 variants. These data are needed both for prognostic counseling of patients and for understanding potential treatment windows. OBJECTIVE: To describe the detailed clinical and molecular genetic findings in a series of patients with RP with likely pathogenic variants in CNGB1. DESIGN, SETTING, AND PARTICIPANTS: In this case series, 10 patients from 9 families underwent full ophthalmologic examination. Molecular investigations included whole-exome analysis in 6 patients. The study was conducted from April 17, 2013, to March 3, 2016, with final follow-up completed on March 2, 2016, and data were analyzed from October 27, 2014, to March 29, 2016. MAIN OUTCOMES AND MEASURES: Results of ophthalmologic examination and molecular genetic analysis of CNGB1. RESULTS: In this case series, 7 women and 3 men from 9 families with a mean (SD) age of 47.4 (13.2) years identified as having CNGB1 variants were included in this study; there was a mean (SD) follow-up length of 3.7 (2.8) years. The first clinical presentation was with nyctalopia in childhood with visual field loss documented later at a mean (SD) age of 33.2 (8.0) years. All patients had preserved best-corrected visual acuity into adulthood, with a mean of 0.1 logMAR (Snellen equivalent, 20/25) in each eye (logMAR range, 0.0 to 0.3 [Snellen 20/20 to 20/40] in the right eye and -0.1 to 0.3 [Snellen 20/16 to 20/40] in the left eye). Fundus examination revealed midperipheral retinal pigment epithelial atrophy and intraretinal pigment migration. Optical coherence tomography of the macula demonstrated complete preservation of the inner segment ellipsoid band in 1 patient, with variable lateral extent in the other patients corresponding to the diameter of a paracentral ring of increased fundus autofluorescence. Electrophysiologic testing in 6 patients confirmed a rod-cone dystrophy phenotype. Molecular investigations identified a previously reported missense variant (p.[N986I]) and 7 variants not previously reported in disease including 4 nonsense (p.[(Q88*], p.[Q222*], p.[Q318*], and p.[R729*]), 2 frameshift (p.[A1048fs*13], p.[L849Afs*3]), and a splice site variant (c.761 + 2T>A). CONCLUSIONS AND RELEVANCE: The data from this study suggest that visual acuity and foveal structure in patients with RP are preserved into adult life such that a lengthy window of opportunity should exist for intervention with novel therapies.
Ocular Immunology and Inflammation · 2016 · 35 citations
Uveitis and Papillitis in the Setting of Dabrafenib and Trametinib Therapy for Metastatic Melanoma: A Case Report
AbstractPURPOSE: To report the diagnosis of acute VKH-like syndrome as a complication from dabrafenib (a serine/threonine inhibitor of BRAF V600) and trametinib (a MEK inhibitor). In combination, these targeted agents have been shown to prolong overall survival and progression free survival in BRAF mutant metastatic melanoma. METHODS: Retrospective medical chart review including radiologic and ophthalmologic investigations. RESULTS: A patient with metastatic melanoma being treated with dabrafenib and trametinib for 2 months presented with 1 week of visual blurring. He had developed bilateral optic disc swelling and uveitis that responded to pulsed steroid therapy. CONCLUSIONS: VKH-like syndrome is a rare but serious complication of targeted therapy that should be considered when evaluating a patient with visual disturbances on dabrafenib and trametinib therapy.
European Journal of Ophthalmology · 2009 · 12 citations
Conversion visual loss: a differential diagnosis in infant amblyopia
AbstractPURPOSE: To report the first case of amblyopia due to a conversion disorder in a child. METHODS: A 9-year-old girl without allergies or family or personal antecedents of interest presented to our clinic. She manifested a progressive visual loss after an episode of lumbar pain. This progressive loss led the patient in a 6-month period to legal bilateral blindness: visual acuity inferior to 2/20 in both eyes and severe constriction of both visual fields. RESULTS: Several pathologic processes were discarded by means of multiple explorations and a general multidisciplinary analysis: physical pathology, simulating patient, schizophrenia, and the Briquet syndrome. Finally, she was diagnosed with a conversion somatoform disorder leading to a bilateral blindness. For 6 months, the patient was successfully treated with psychotherapy and a pharmacologic protocol. Total recovery was achieved with final visual acuity of 20/20 in both eyes and normal visual fields. CONCLUSION: Conversion disorders should be considered as an additional etiology of visual loss in children. In these cases, the analysis and multidisciplinary treatment is crucial for a successful outcome.
Integration of multiomic data identifies core-module of inherited-retinal diseases
AbstractHuman diseases with similar phenotypes can be interconnected through shared biological pathways, genes, or molecular mechanisms. Inherited retinal diseases (IRDs) cause photoreceptor dysfunction due to mutations in approximately 300 genes, affecting visual transduction, photoreceptor morphogenesis, and transcription factors, suggesting common pathobiological mechanisms. This study examined the functional relationship between known IRDs genes by integrating binding sites and gene expression data from the key photoreceptor transcription factors (TFs), Crx and Nrl. We show that the targets of these TFs were enriched in IRDs causal genes. Co-expression network analysis revealed that IRD-centric networks were disrupted when Crx and Nrl were knocked out. Finally, we identified a highly connected core module comprising 14 IRD and 39 target genes, of which 29 were dysregulated in the rod photoreceptors of the four IRD mouse models. These findings offer a network-based interpretation of IRDs, aiding in the identification of common mechanisms, prioritizing genes for novel disease gene identification, and informing the development of gene-agnostic therapies for IRDs.
The Efficacy of Repetitive Transorbital Alternating Current Stimulation (rtACS) in Patients With Optic Nerve Damage: A Systematic Review and Meta-Analysis
AbstractOptic nerve disorders significantly contribute to visual impairment with irreversible visual deficits. Current treatments have limited efficacy in resolving chronic visual deficits, necessitating novel therapeutic strategies. Neurorehabilitation techniques, including repetitive transorbital alternating current stimulation (rtACS), have emerged as promising approaches to restore lost visual function through the ability to modulate brain activity. However, the evidence on the effectiveness of rtACS remains inconclusive, warranting a systematic review to assess its potential as a therapeutic intervention for optic nerve-related visual deficits. This study exclusively evaluated the effectiveness of rtACS for visual field restoration in patients with optic nerve damage, including only randomized controlled trials (RCTs) that met the strict eligibility criteria. A thorough screening and data extraction process was conducted by independent reviewers, followed by a meta-analysis to assess the statistical significance and heterogeneity of the included studies. The improvement in the visual field in the rtACS compared to the sham group was the primary outcome, and visual acuity improvement was the secondary outcome. This study included three RCTs that evaluated the effects of rtACS compared to sham control in treating optic nerve damage. In regard to visual field (VF), the results revealed a significant improvement in the detection accuracy of the rtACS group compared to the control group, with a pooled mean difference of 32.06 [95% CI: 19.2, 51.2] (p=0.001, I2= 0%). The near and far vision revealed no statistically significant difference between both groups. Based on the systematic review, the use of rtACS shows a promising effect in improving the detection accuracy of the VF for patients with optic nerve damage, with a significant benefit over sham control. However, the effects on other visual outcomes were minimal, and safety data was limited. Further high-quality trials are needed to corroborate the findings and provide a more comprehensive evaluation of its efficacy and safety for treating optic nerve-related visual deficits.
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.
