DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for retinitis pigmentosa 26 — screening already-approved drugs against its 1-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleRetinitis pigmentosa 26 maps to a 1-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 retinitis pigmentosa 26 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
integrin subunit alpha 4 (ITGA4) — ITGA4 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 2,6-dichlorobenzoyldrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 3V4V · 3.1 Å · ligand N-(2,6-dichlorobenzoyl)-4-[1,6-dimethyl-2-oxo-4-(trifluoromethyl)-1,2-dihydropyridin-3-yl]-L-phenylalanine (0DU). Experimental structure, not a prediction.
What the evidence adds up to
In a 1982 Chinese study of 151 pedigrees (209 cases) of retinitis pigmentosa in Shanghai, autosomal recessive inheritance accounted for 33.1% of cases, autosomal dominant for 11%, X-linked recessive for 7.7%, and simplex cases for 48.3%. The average age of onset was 24.7 years in the autosomal dominant type, 22.9 years in the autosomal recessive type, and five years in the X-linked recessive type. Average refractive errors were -1.88 D, -2.37 D, and -5.72 D respectively. Screening of 24,100 persons found six cases. The gene frequency calculated from disease prevalence for the autosomal recessive type (including simplex cases) was 0.0142267, but the gene frequency calculated from the consanguinity rate of 15.9% was much lower at 0.00389, suggesting that the autosomal recessive group comprises multiple distinct disease entities, estimated at between 11 and 41 separate mutations.
A 1996 study of a single Japanese family with autosomal dominant retinitis pigmentosa linked to chromosome 19q examined 11 symptomatic members, two asymptomatic obligate carriers, and nine nonaffected members across four generations. The two asymptomatic carriers showed mildly affected fundus and fluorescein angiographic images, restricted central and midperipheral visual fields, and reduced amplitudes of rod-isolated responses on electroretinography, indicating functional abnormalities despite lack of symptoms. Marked variability in expressivity of the phenotype was found within this family.
A 2020 paper from Azerbaijan titled "Studies of underlying molecular mechanisms of retinitis pigmentosa in experimental model and clinics" is listed but no results, methods, or data are provided in the abstract. It does not report any findings on retinitis pigmentosa 26 or any specific gene.
What is still missing for retinitis pigmentosa 26 specifically: no clinical trial data for any drug, no identified molecular target or therapy tested in patients, no animal model results relevant to the RP26 genotype, and no funding for a dedicated trial. Patient stratification by the specific gene mutation has not been attempted in a treatment context.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
American Journal of Medical Genetics · 1982 · 84 citations
Genetic aspects of retinitis pigmentosa in China
AbstractWe analyzed 151 pedigrees (209 cases) of retinitis pigmentosa in Shanghai, China. Of the 209 cases, the proportion of autosomal recessive (AR), autosomal dominant (AD), X-linked recessive (XR), and simplex cases is 33.1, 11, 7.7, and 48.3% respectively. The average age of onset was 24.7 years in the AD type, 22.9 years in the AR and five years in the XR type. The average refractive errors were -1.88 D in the AD type, -2.37 D in the AR type, and -5.72 D in the XR type. In addition, 24,100 persons were screened and six cases of retinitis pigmentosa were found. The gene frequencies of the AR (including simplex cases), AD, and XR types as calculated from the disease prevalence were 0.0142267, 0.0000137, and 0.0000384, respectively. The gene frequency of the AR type as calculated from the frequency of consanguinity (15.9%) was 0.00389, which is much less than that calculated from the prevalence. The probable explanation is that the AR type of retinitis pigmentosa really consists of several different disease entities, with each entity representing a separate gene mutation. The number of different mutations within the AR group is estimated to lie between 11 and 41.
Variable Expressivity in a Japanese Family With Autosomal Dominant Retinitis Pigmentosa Closely Linked to Chromosome 19q
AbstractOBJECTIVE: To describe the clinical features of a Japanese family with autosomal dominant retinitis pigmentosa, the locus of which has been mapped on chromosome 19q. DESIGN: Ophthalmologic testing, including visual acuity, slit-lamp biomicroscopy, and fundus examinations, for all family members examined. Selected members underwent kinetic visual field testing, electroretinography, and fluorescein angiography. PATIENTS: Eleven symptomatic members, two asymptomatic obligate carriers, and nine nonaffected members in four generations of a single family with autosomal dominant retinitis pigmentosa. RESULTS: Asymptomatic carriers showed mildly affected fundus and fluorescein angiographic images. Visual field testing disclosed restricted central and midperipheral fields. Electroretinograms disclosed reduced amplitudes of rod-isolated responses in both of these family members, indicating functional abnormalities. CONCLUSION: Marked variability in expressivity of the retinitis pigmentosa phenotype was found in a family with autosomal dominant retinitis pigmentosa linked to chromosome 19q.
Journal of life sciences and biomedicine · 2020 · 0 citations
Studies of underlying molecular mechanisms of retinitis pigmentosa in experimental model and clinics
AbstractStudies of underlying molecular mechanisms of retinitis pigmentosa in experimental model and clinicsU.S. IsmailovaAcademician Abdulla Garayev Institute of Physiology, Azerbaijan National Academy of Sciences, 78 Sharifzadeh Str., Baku AZ1100, AzerbaijanFor correspondence: [email protected]
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.
