DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for cone-rod dystrophy 12 — screening already-approved drugs against its 3-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleCone-rod dystrophy 12 maps to a 3-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
approvedOxandroloneApproved drug
Structures already discussed alongside cone-rod dystrophy 12 in the retrieved literature, rendered from public PubChem SMILES. Which drugs appear here reflects the evidence found, not a ranked prediction.
Molecular view
cytokine receptor like factor 1 (CRLF1) — CRLF1 is one of the genes in this disease's Open Targets module — part of the target space DeCure's repurposing candidates point at. The protein backbone is drawn as a cartoon.
Loading structure…
helix sheet apo structuredrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 8D7H · 3.4 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
In 33 patients from 25 families assessed prospectively, two major electroretinographic types of cone-rod dystrophy were identified: type 1, where cone amplitudes were reduced more than rod amplitudes, and type 2, where cone and rod amplitudes were reduced equally. Each type was subdivided by visual field and threshold patterns, yielding four functional subtypes. Among 95 additional patients with sufficient data, all but two fit one of these four subtypes. The authors concluded the subtypes might be useful for counselling and molecular studies, but the classification was based on physiology, not genotype.
A 2007 study of eight unrelated patients with cone dystrophy and a supernormal rod electroretinogram found mutations in the KCNV2 gene in every patient. The mutations included one frameshift, two nonsense, one non-stop, and six missense changes. Four missense mutations affected the amino terminal region of the protein, two affected the pore region. The authors concluded that KCNV2 mutations account for most if not all cases of this specific electroretinographic form.
A family with autosomal dominant cone-rod dystrophy linked to chromosome 19q was examined across four generations, including 34 affected and 22 unaffected members. Loss of visual acuity began in the first decade of life, night blindness started after age 20, and little visual function remained after age 50. Central and then peripheral fundus changes were accompanied by central scotoma, pseudoaltitudinal field defects, and eventual global loss of function. In members under 26 years, cone function was more severely lost than rod function. The authors noted that this phenotype did not fit well into the earlier subtypes, and that further studies correlating specific mutations with clinical phenotypes were needed.
What is still missing is a unified genetic classification that maps the functional subtypes to specific mutations, a prospective trial of any intervention, and patient stratification by genotype rather than electroretinographic pattern alone. No treatment has been tested in any of these cohorts.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Archives of Ophthalmology · 1993 · 87 citations
Clinical Subtypes of Cone-Rod Dystrophy
AbstractOBJECTIVE: To determine possible distinct phenotypic subtypes of cone-rod dystrophy. PATIENTS: Thirty-three patients with cone-rod dystrophy (from 25 families) were assessed prospectively on electroretinography, visual field testing, psychophysical threshold profiles, and fundus features. The clinical records of an additional 150 patients with cone-rod dystrophy were examined retrospectively in terms of the classification schema derived from the prospective study. RESULTS: Based on electroretinographic recordings, two major types of cone-rod dystrophy were differentiated. In type 1, cone amplitudes were reduced to a greater degree than were rod amplitudes on electroretinography, while in type 2, cone and rod electroretinographic amplitudes were reduced in equal proportion. These two types were further subdivided on the basis of patterns of visual field loss and threshold elevation. In type 1a, there was a central or paracentral scotoma, and cone thresholds were more elevated centrally than peripherally. In type 1b, there was no central scotoma, and cone thresholds were more elevated peripherally than centrally. In type 2a, there was a central scotoma, cone thresholds were more elevated centrally than peripherally, and rod thresholds were more elevated peripherally than centrally. In type 2b, a partial or complete ring scotoma was present, cone thresholds were more elevated peripherally than centrally, and rod thresholds were more elevated in the midperipheral than in either the central or far peripheral region of the retina. Of the 150 additional patients with cone-rod dystrophy, data sufficient for classification were available for 95 patients, and all but two had findings that were consistent with classification into one of these four subtypes. CONCLUSION: Our results identify four functionally distinct subtypes of cone-rod dystrophy that may be useful for patient counseling and future molecular genetic studies.
A beneficial effect of oxandrolone in the treatment of Duchenne muscular dystrophy
AbstractWe treated 10 boys with Duchenne muscular dystrophy with oxandrolone, an anabolic steroid, for 3 months. The mean of the changes in the average muscle score was an improvement of 0.315 +/- 0.097. The expected mean change in muscle score after 3 months from natural history data is a loss of 0.1. The difference of 0.415 between the actual and expected values is significant at p < 0.01. This preliminary evidence suggests that oxandrolone treatment may provide a degree of functional benefit for children with Duchenne muscular dystrophy that is similar to that after prednisone administration.
Novel Mutations in the<i>KCNV2</i>Gene in Patients with Cone Dystrophy and a Supernormal Rod Electroretinogram
AbstractPURPOSE: To identify mutations in KCNV2 in patients with a form of cone dystrophy characterized by a supernormal rod electroretinogram (ERG). METHODS: The 2 exons and flanking intron DNA of KCNV2 from 8 unrelated patients were PCR amplified and sequenced. RESULTS: We found 1 frameshift, 2 nonsense, 1 non-stop, and 6 missense mutations. Every patient had one or two mutations identified. Of the missense mutations, 4 affected residues were in the amino terminal region of the protein, and two in the pore region. CONCLUSIONS: KCNV2 mutations account for most if not all cases of cone dystrophy with a supernormal rod ERG.
AbstractOBJECTIVE: To describe the phenotype in a family with dominantly inherited cone-rod dystrophy with chromosome assignment to a 19q locus, and to correlate this with current classifications of this retinal dystrophy. DESIGN: A detailed clinical examination including Goldmann perimetry was undertaken in all family members. Six members under the age of 30 years underwent dark-adapted electroretinography, color contrast-sensitivity measurement, dark-adapted static perimetry, and dark adaptometry. PATIENTS: The study included 34 affected and 22 unaffected patients in four generations of a pedigree that manifested autosomal dominant cone-rod retinal dystrophy linked to a chromosome 19q locus by genetic linkage analysis. RESULTS: Loss of visual acuity occurred in the first decade of life, onset of night blindness occurred after 20 years of age, and little visual function remained after the age of 50 years. Central and, later, peripheral retinal fundus changes were associated with central scotoma, pseudoaltitudinal field defects, and finally global loss of function. Psychophysical and electrophysiologic testing before the age of 26 years showed more marked loss of cone than rod function. CONCLUSIONS: The phenotype associated with this mutation does not fit well into previous subtypes of cone-rod dystrophy. Further studies will be needed to correlate specific genetic mutations in this group of conditions with the various clinical phenotypes.
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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