DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for congenital nystagmus — screening already-approved drugs against its 4-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleCongenital nystagmus maps to a 4-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 congenital nystagmus 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
roundabout guidance receptor 1 (ROBO1) — ROBO1 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 apo structuredrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 5OPE · 2.54 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
A 1993 family study found autosomal dominant congenital nystagmus cosegregating with a balanced 7;15 translocation, suggesting a possible gene localisation for the condition. A 1999 linkage analysis of a four-generation family with X-linked congenital nystagmus and deuteranomaly identified a disease interval on Xq between markers ATA59C05 and DXS1192, a 5.4-centimorgan region. Fourteen patients in that family had horizontal, conjugate, congenital nystagmus, all with visual acuity of 20/60 or better; five patients had both nystagmus and deuteranomaly. The maximum lod score was 4.84 with marker DXS8041.
A 1988 statistical analysis of 2,400 subjects undergoing neuro-otological examination found congenital nystagmus in 84 (3.5%). Of these, 45 had the jerking type, 19 pendular jerking, 11 pendular, and 9 latent nystagmus. The male-to-female ratio was 2:1. A 2003 review noted that infantile nystagmus syndrome waveforms can be identified before 7 months of age, that refractive errors in these patients do not follow normal emmetropisation trends, and that an electron microscopic study found abnormalities at the extraocular muscle tendon insertion site. The review also mentioned new evidence for sympathomimetic modulation and novel surgical treatments, but gave no patient numbers or outcome data.
A 1991 letter responding to a surgical report on large rectus muscle recessions for congenital nystagmus raised concerns that the described procedure had only been applied to three patients, and questioned what percentage of patients with the diagnosis would be candidates. No efficacy data from that surgical series are provided in the abstract. What remains missing are prospective, controlled trials with adequate sample sizes, standardised outcome measures such as foveation time or visual acuity, and any stratification by genetic subtype or waveform type.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Journal of Medical Genetics · 1993 · 29 citations · open access
Congenital nystagmus cosegregating with a balanced 7;15 translocation.
AbstractWe report a family in which autosomal dominant congenital nystagmus cosegregates with a balanced 7;15 translocation. Ophthalmic investigation showed predominantly horizontal nystagmus with a small rotatory component and no significant loss of visual function. This finding suggests a possible localisation for autosomal dominant congenital nystagmus (McKusick 164100).
Current Opinion in Ophthalmology · 2003 · 25 citations
Infantile-onset nystagmus
AbstractPURPOSE OF REVIEW: Recent studies on the various forms of infantile-onset nystagmus have advanced our understanding of these disorders. The previously described waveforms of infantile nystagmus syndrome (congenital nystagmus) may be identified in infants less than 7 months of age, including the more mature forms; the visual status of these patients may be directly correlated with their mean foveation times. RECENT FINDINGS: Refractive errors in patients with infantile nystagmus syndrome do not follow the expected trend toward emmetropization during infancy and early childhood. A study on the torsional component of nystagmus present in most patients with infantile nystagmus syndrome found it to be generated centrally and not by peripheral or mechanical dynamics. Two psychophysical studies on patients with infantile nystagmus syndrome revealed significant differences compared with control subjects. Two different animal models imply that lack of normal visual motion during a critical period of development in infancy leads to infantile nystagmus syndrome. An electron microscopic study of the enthesis site-where the extraocular muscle tendon inserts onto the sclera-in normal individuals versus patients with infantile nystagmus syndrome revealed significant abnormalities in the latter. Significant demographic and socioeconomic differences were reported between patients with infantile nystagmus syndrome and those with spasmus nutans. SUMMARY: New evidence supports a role for sympathomimetic modulation of infantile nystagmus syndrome. Novel surgical treatments for infantile nystagmus syndrome are also discussed.
Large Rectus Muscle Recessions for the Treatment of Congenital Nystagmus
AbstractTo the Editor. —We read the article by von Noorden and Sprunger 1 in the February 1991 issue of theArchiveswith great interest. The authors present an approach to the operative treatment of manifest congenital nystagmus that might, in principle, be applied to many patients with this unfortunate condition. Although not a new condition, this is the first description of the operative intervention in the American literature, for which we are grateful to the authors. Because of its potential profound implications for therapy, we wish to raise questions that the careful clinician may want answered before applying the formidable muscle procedure to patients with congenital nystagmus. How often do the authors see patients with manifest congenital nystagmus of various origins to whom they offer this operative intervention? Since the report describes only three patients, it is important to know what percentage of patients with these diagnoses are candidates, in
Archives of Ophthalmology · 1999 · 15 citations · open access
Clinical Characterization and Linkage Analysis of a Family With Congenital X-Linked Nystagmus and Deuteranomaly
AbstractOBJECTIVES: To identify a congenital nystagmus locus on the X chromosome and to characterize the phenotype of a 4-generation family affected with congenital nystagmus and color deficiency. METHODS: Sixty-five patients underwent an eye examination, including evaluation for the presence of nystagmus and color vision abnormalities. Affected patients and obligate carriers of the congenital nystagmus mutation were genotyped with short tandem repeat polymorphisms located on the X chromosome, and these data were subjected to linkage analysis. RESULTS: Fourteen patients were affected with a horizontal, conjugate, congenital nystagmus. All examined patients had a visual acuity of 20/60 or better. There were no associated ocular or systemic findings except that 18 of the family members had deficient red-green color vision, which was classified as deuteranomaly (the most common form of anomalous trichromacy). Five patients exhibited nystagmus and deuteranomaly. Significant linkage was demonstrated between the nystagmus phenotype and 11 markers from Xq. The maximum lod score was 4.84 (theta = 0) and was obtained with marker DXS8041. Analysis of recombinants defined the disease interval to lie between markers ATA59C05 and DXS1192 (a 5.4-centimorgan region). The proximity of this locus to the red-green opsin gene cluster (11 centimorgans more telomeric) explains the frequent coexistence of nystagmus and color vision deficiency in this family. CONCLUSIONS: We have identified the genetic locus of the X-linked congenital nystagmus gene in this family. The critical interval in this report is less than half the size of the previously described nystagmus locus. These findings will aid in identifying the gene responsible for this condition.
Practica Oto-Rhino-Laryngologica · 1988 · 0 citations · open access
Clinical study on congenital nystagmus. Statistical analysis.
AbstractThere have been many case reports on so-called congenital nystagmus, but only a few papers have deal with the statistics and pathophysiology. May be that is the reason that some patients with congenital nystagmus are simply diagnosed as having a visual defect, and some have been sent to a school for the blind.Recently, our department has done precise neurootological examinations on 2, 400 subjects. Congenital nystagmus was found in 84 of them (3.5%); 45 had the jerking type, 19 the pendular jerking type, 11 the pendular type and 9 the latent type of nystagmus. The male/female ratio was 2:1.The congenital nystagmus in these 84 cases is analyzed statistically.
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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