DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for cone-rod dystrophy — screening already-approved drugs against its 30-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 maps to a 30-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 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.
Molecular view
RAB28, member RAS oncogene family (RAB28) — RAB28 is one of the genes genetically linked to this disease in Open Targets — shown as context, not as a drug target we're pursuing: no approved-drug candidate for this disease is yet corroborated in the literature we found.
Loading structure…
helix sheet g3ddrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 2HXS · 1.1 Å · ligand GUANOSINE-3'-MONOPHOSPHATE-5'-DIPHOSPHATE (G3D). Experimental structure, not a prediction.
What the evidence adds up to
A 1993 prospective study of 33 patients with cone-rod dystrophy from 25 families, plus retrospective review of 150 additional patients, identified four functional subtypes based on electroretinography, visual field loss, and threshold profiles. Type 1 showed greater cone than rod amplitude reduction; type 2 showed equal reduction. Each type was subdivided by scotoma location and threshold elevation patterns. Of 95 retrospectively reviewed patients with sufficient data, all but two fit one of the four subtypes. The authors concluded these subtypes might aid counselling and molecular genetic studies.
A 1995 study of a single family with autosomal dominant cone-rod dystrophy linked to chromosome 19q examined 34 affected and 22 unaffected members across four generations. 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. Psychophysical and electrophysiologic testing before age 26 showed more marked loss of cone than rod function. The authors noted that this phenotype did not fit well into the previously described subtypes.
A 1981 linkage study of a five-generation family with autosomal dominant cone-rod dystrophy with complete penetrance tested 17 biochemical and serological markers in 73 family members, of whom 25 were affected. No linkage could be established between the disease gene and any of the markers studied.
A 2024 case report described the second confirmed case of rod-cone dystrophy associated with a GNB1 mutation (c.217G>C, p.Ala73Pro) in a 56-year-old patient who also had mild intellectual disability, attention deficit/hyperactivity disorder, and truncal obesity. The authors stated that this confirmed the role of GNB1 in the pathogenesis of classic rod-cone dystrophy and recommended including this gene in genetic analysis panels for inherited retinal diseases. No treatment or intervention was tested in any of these studies. What remains missing are prospective trials of any therapy, validated biomarkers for progression, and systematic genotype-phenotype correlations that could stratify patients for future clinical studies.
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.
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.
The Journal of Clinical Psychiatry · 2004 · 15 citations
A Case of Tardive Dystonia Successfully Managed With Quetiapine
AbstractArticle AbstractBecause this piece does not have an abstract, we have provided for your benefit the first 3 sentences of the full text.Sir: Tardive dystonia is a serious adverse event of neuroleptic medication. Here, we report a case of successful management of tardive dystonia with quetiapine.Case report. Mr. A, a 31-year-old man with a 7-year history of DSM-IV schizophrenia, had been treated with haloperidol, 2 mg/day, and sulpiride, 400 mg/day. Dystonic movements involving bending and twisting of the trunk were documented in July 2001. Tardive dystonia was suspected, and neuroleptic drugs were discontinued. The patient's dystonic movements progressed, however, with a recurrence of psychotic symptoms. Mr. A was admitted to our hospital in March 2002 for close inspection and treatment.
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.
Abstract<h3>To the Editor.—</h3> A recent article by Puggiari and Cherington, "Botulism and Guanidine: Ten Years Later" (240:2276, 1978), reported on two additional cases of botulism treated with guanidine hydrochloride. The authors noted improved strength of ocular and limb muscles but not of respiratory muscles. They then reviewed the literature and noted that "some benefit" was reported in 39 cases and "little or no benefit" was shown in 13 others treated with guanidine. Contributing to these figures, but not directly called to the reader's attention by citation, was an important article by Faich et al,<sup>1</sup>"Failure of Guanidine Therapy in Botulism A." This article cites one of the more careful and complete studies on the value, or rather, the nonvalue, of guanidine. Faich and associates stressed in their conclusion that they could find "no objective or subjective clinical benefits from guanidine therapy... [in their four cases] during the acute or recovery
Case Reports in Ophthalmology · 2024 · 1 citations · open access
GNB1-Related Rod-Cone Dystrophy: A Case Report
Abstract<b><i>Introduction:</i></b> The <i>GNB1</i> (guanine nucleotide-binding protein, β1) gene encodes for the ubiquitous β1 subunit of heterotrimeric G proteins, which are associated with G-protein-coupled receptors (GPCRs). <i>GNB1</i> mutations cause a neurodevelopmental disorder characterized by a broad clinical spectrum. A novel variant has recently been confirmed in a case of rod-cone dystrophy. <b><i>Case Presentation:</i></b> We describe the second confirmed case of a classical rod-cone dystrophy associated with a mutation located in exon 6 of <i>GNB1</i> [NM_002074.5:c.217G&gt;C, p.(Ala73Pro)] in a 56-year-old patient also presenting mild intellectual disability, attention deficit/hyperactivity disorder, and truncal obesity. <b><i>Conclusion:</i></b> This paper confirms the role of <i>GNB1</i> in the pathogenesis of a classic rod-cone dystrophy and highlights the importance of including this gene in the genetic analysis panel for inherited retinal diseases.
Journal of Clinical Toxicology · 2015 · 0 citations
A case report of Olanzapine induced Tardive Dystonia presenting along with Catatonia
AbstractTardive dystonia (TD) is a movement disorder dominated by involuntary muscle contractions associated with prolonged exposure to neuroleptics. We are reporting a unique case of Olanzapine induced TD which presented along with catatonia. Both the disorders showed significant improvement with Clozapine. We recommend use of Clozapine for the management of cases of TD with catatonia.
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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