DeCure for Nystagmus, congenital, autosomal recessive
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for nystagmus, congenital, autosomal recessive — 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 moduleNystagmus, congenital, autosomal recessive 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 nystagmus, congenital, autosomal recessive 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 2007 study of 38 congenital idiopathic nystagmus probands (one X-linked pedigree plus 37 others) found FRMD7 mutations in only a minority of cases. In the X-linked pedigree, the nystagmus phenotype was extremely variable. Eighty percent of X-linked families and 96% of simplex cases showed no FRMD7 mutations. X-inactivation studies showed no clear causal link between skewing and variable penetrance. The authors concluded that other congenital nystagmus genes exist besides FRMD7 and that the diagnostic yield of FRMD7 screening is low.
A 2003 review of infantile-onset nystagmus noted that refractive errors in patients with infantile nystagmus syndrome do not follow the expected trend toward emmetropisation during infancy and early childhood. Two psychophysical studies found significant differences between patients and control subjects. An electron microscopic study of the extraocular muscle tendon insertion site revealed significant abnormalities in patients versus normal individuals. The review mentioned new evidence supporting a role for sympathomimetic modulation of infantile nystagmus syndrome and discussed novel surgical treatments, but gave no quantitative efficacy data.
A 2006 review of the molecular genetics of congenital idiopathic nystagmus stated that autosomal dominant, autosomal recessive, and X-linked patterns have been reported. Linkage analysis suggested at least three distinct loci for both autosomal dominant and X-linked forms, but as of that review no disease genes had been identified. The pathophysiological mechanisms were described as poorly understood. The review emphasised that the power of linkage experiments depends heavily on accurate phenotyping to avoid misdiagnosis due to masquerading conditions and phenotypic variation within pedigrees.
What is still missing is a clear genetic target for autosomal recessive congenital nystagmus, as no disease gene has been identified for that inheritance pattern. There are no randomised controlled trials of any drug for this condition. The role of sympathomimetic modulation mentioned in the 2003 review remains unsupported by published trial data. Patient stratification by genotype is impossible until the relevant genes are found, and funding for such discovery work in rare recessive forms is limited.
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 · 2007 · 62 citations
Allelic Variation of the FRMD7 Gene in Congenital Idiopathic Nystagmus
AbstractOBJECTIVES: To perform a genotype-phenotype correlation study in an X-linked congenital idiopathic nystagmus pedigree (pedigree 1) and to assess the allelic variance of the FRMD7 gene in congenital idiopathic nystagmus. METHODS: Subjects from pedigree 1 underwent detailed clinical examination including nystagmology. Screening of FRMD7 was undertaken in pedigree 1 and in 37 other congenital idiopathic nystagmus probands and controls. Direct sequencing confirmed sequence changes. X-inactivation studies were performed in pedigree 1. RESULTS: The nystagmus phenotype was extremely variable in pedigree 1. We identified 2 FRMD7 mutations. However, 80% of X-linked families and 96% of simplex cases showed no mutations. X-inactivation studies demonstrated no clear causal link between skewing and variable penetrance. CONCLUSIONS: We confirm profound phenotypic variation in X-linked congenital idiopathic nystagmus pedigrees. We demonstrate that other congenital nystagmus genes exist besides FRMD7. We show that the role of X inactivation in variable penetrance is unclear in congenital idiopathic nystagmus. Clinical Relevance We demonstrate that phenotypic variation of nystagmus occurs in families with FRMD7 mutations. While FRMD7 mutations may be found in some cases of X-linked congenital idiopathic nystagmus, the diagnostic yield is low. X-inactivation assays are unhelpful as a test for carrier status for this disease.
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.
The Molecular Genetics of Congenital Idiopathic Nystagmus
AbstractCongenital Idiopathic Nystagmus (CIN) is genetically heterogeneous. Autosomal dominant, autosomal recessive and X-linked patterns of inheritance have been reported. Linkage analysis has suggested the existence of at least three distinct loci for both autosomal dominant and x-linked forms, although as yet no disease genes have been identified. The pathophysiological mechanisms underlying nystagmus are poorly understood and it is likely that insights may arise from finding and characterizing disease genes. If linkage experiments are used to find "nystagmus genes," their power will depend heavily on accurate phenotyping to avoid misdiagnosis due to masquerading conditions and phenotypic variations within pedigrees.
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.
