DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for cone-rod dystrophy 15 — 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 moduleCone-rod dystrophy 15 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 cone-rod dystrophy 15 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
A single family with autosomal dominant cone-rod dystrophy linked to chromosome 19q was studied across four generations, including 34 affected and 22 unaffected members. Loss of visual acuity began in the first decade of life, night blindness appeared after age 20, and little visual function remained after age 50. Central and later peripheral retinal changes were accompanied by central scotoma, pseudoaltitudinal field defects, and eventual global loss of function. Psychophysical and electrophysiologic testing in members under 26 years showed more marked loss of cone than rod function. The authors concluded that the phenotype did not fit well into previous subtypes of cone-rod dystrophy.
An earlier linkage study in a separate five-generation family with autosomal dominant cone-rod dystrophy and complete penetrance examined 17 biochemical and serological markers in 73 family members, of whom 25 were affected. No linkage could be established by maximum likelihood analysis between the disease gene and any of the markers studied. No drug, treatment, or intervention was tested in either of these two cone-rod dystrophy studies.
Two abstracts concerning Duchenne muscular dystrophy were included in the input but contain no information relevant to cone-rod dystrophy 15. They report on 283 boys with Duchenne dystrophy and ten with Becker dystrophy followed for up to ten years, but no drug, outcome, or therapy data are provided in the text given.
No drug has been studied for cone-rod dystrophy 15 in any of these abstracts. What is missing is any trial of a therapeutic agent, any molecular characterisation of the causative mutation, any patient stratification by genotype, and any funding directed toward treatment development for this specific condition.
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 · 1995 · 29 citations
Chromosome 19q Cone-Rod Retinal Dystrophy
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.
American Journal of Medical Genetics · 1981 · 4 citations
Autosomal dominant cone‐rod dystrophy: A linkage study with 17 biochemical and serological markers
AbstractFive generations of a family with autosomal-dominant cone-rod dystrophy (CRD) with complete penetrance have been previously studied extensively clinically. The young members of this family were reevaluated, and blood from 73 available family members was studied with 17 biochemical and serological markers. A total of 25 relatives was found to be affected. Linkage between the gene for CRD in this family and the markers studied could not be established by maximum likelihood analysis.
AbstractThe clinical progression and effects of therapy in 283 boys with Duchenne dystrophy and ten with Becker dystrophy followed for up to ten years in a collaborative study are reported from the Departments of Neurology and Biostatistics, Washington University School of Medicine, St. Louis, MO, the Departments of Neurology, Vanderbilt University, Nashville, TN, Ohio State University, Columbus, Ohio and University of Rochester, Rochester, New York.
Galter Health Sciences Library, Northwestern University · 1989 · 0 citations · open access
Duchenne Muscular Dystrophy
AbstractThe clinical progression and effects of therapy in 283 boys with Duchenne dystrophy and ten with Becker dystrophy followed for up to ten years in a collaborative study are reported from the Departments of Neurology and Biostatistics, Washington University School of Medicine, St. Louis, MO, the Departments of Neurology, Vanderbilt University, Nashville, TN, Ohio State University, Columbus, Ohio and University of Rochester, Rochester, New York.
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.
