DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for nystagmus 6, congenital, X-linked — 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 moduleNystagmus 6, congenital, X-linked 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 nystagmus 6, congenital, x-linked 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
transducin beta like 1 X-linked (TBL1X) — TBL1X 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 2XTC · 2.22 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
In a four-generation X-linked family, fourteen patients had horizontal, conjugate, congenital nystagmus with visual acuity of 20/60 or better and no other ocular or systemic findings except that eighteen family members had deuteranomaly (the commonest form of anomalous trichromacy); five had both nystagmus and deuteranomaly. Linkage analysis placed the nystagmus gene in a 5.4-centimorgan interval on Xq between markers ATA59C05 and DXS1192, about 11 centimorgans from the red-green opsin gene cluster, which explains the co-occurrence of the two conditions in that family. The maximum lod score was 4.84 at theta = 0 with marker DXS8041.
A separate study of a large X-linked congenital idiopathic nystagmus pedigree found extreme phenotypic variation. Screening of FRMD7 in that pedigree and in 37 other probands and controls identified only two FRMD7 mutations; 80% of X-linked families and 96% of simplex cases showed no 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 X-inactivation assays are unhelpful for carrier testing.
A review notes that congenital idiopathic nystagmus is genetically heterogeneous, with autosomal dominant, autosomal recessive and X-linked patterns reported. Linkage analysis suggests at least three distinct loci for both autosomal dominant and X-linked forms, but only one disease gene (FRMD7 at Xq26.2) has been identified. The pathophysiological mechanisms remain poorly understood. An earlier Japanese pedigree was described as compatible with X-linked irregular dominant transmission, with no male-to-male transmission and skipping of a generation, making genetic counselling difficult.
A 1974 report noted that among X-linked neuro-ophthalmological diseases, congenital nystagmus is notable for the affected female heterozygote. Linkage and crossing-over with the Xg blood group suggested the nystagmus gene lies on the long arm of the X chromosome. A draft of genetic counselling was given for various family situations.
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.
A Review of the Molecular Genetics of Congenital Idiopathic Nystagmus (CIN)
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 only one disease gene has been identified (FRMD7, Xq26.2). The pathophysiological mechanisms underlying nystagmus are poorly understood but it is anticipated that characterization of the FRMD7 gene and identification of novel nystagmus genes will provide insights into this condition and the functioning and development of the visual pathways in general.
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.
Ophthalmic Paediatrics and Genetics · 1986 · 7 citations
Hereditary congenital nystagmus A Japanese pedigree
AbstractA Japanese pedigree of congenital nystagmus compatible with an X-linked irregular dominant transmission is described. An absence of male-to-male transmission, and skipping of a generation were noted. Genetic counseling for congenital nystagmus is difficult because of the irregular pattern of inheritance.
Acta geneticae medicae et gemellologiae · 1974 · 0 citations · open access
Genetic Counseling in X-Chromosomal-Linked Neuroophthalmological Diseases. Status of the Female Heterozygote. Linkage and Crossingover with Xg Blood Group
AbstractAmong X-linked neuroophthalmological ailments, congenital nystagmus is particularly interesting because of the affected female heterozygote. Linkage and crossingover with Xg blood group suggest that the locus of the nystagmic gene is on the long arm of the X chromosome. A draft of genetic counseling is given according to the various possible family situations.
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.
