DeCure for Mosaic variegated aneuploidy syndrome 1
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for mosaic variegated aneuploidy syndrome 1 — 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 moduleMosaic variegated aneuploidy syndrome 1 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 mosaic variegated aneuploidy syndrome 1 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
p21 (RAC1) activated kinase 6 (PAK6) — PAK6 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 ipadrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 4KS7 · 1.4 Å · ligand ISOPROPYL ALCOHOL (IPA). Experimental structure, not a prediction.
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 Pediatrics and Adolescent Medicine · 1965 · 37 citations
Congenital Asymmetry Associated with Trisomy 18 Mosaicism
AbstractTHE PHENOMENON of chromosome mosaicism, the presence of two or more chromosome lines in one individual, has been found to account for a number of previously unexplained unusual clinical observations. A large number of intersex cases, whose etiology was previously unknown, has been found to be caused by an XX/XY, XY/XO, or analogous type of mosaic pattern.1Some atypical and mild cases of Turner's syndrome and other chromosomal syndromes have been similarly explained by the finding of an admixture of normal and aneuploid cells in the affected individuals.1The extent of clinical involvement in these types of cases has been generally assumed to be a function of the number of aneuploid cells and their distribution throughout the body. Theoretically, it would appear possible that predominant unilateral aneuploidy could cause asymmetry and marked clinical involvement of only one side of the body. However, most reported cases of mosaicism appear
Journal of Medical Genetics · 1999 · 10 citations · open access
45,X/47,XX,+18 constitutional mosaicism: clinical presentation and evidence for a somatic origin of the aneuploid cell lines
AbstractEditor—Constitutional mosaicism for two distinct chromosome aneuploidies is a rare cytogenetic abnormality. Usually in such cases, an autosomal aneuploidy is associated with a gonosomal aneuploidy. Little is known about the sequence of errors leading to such complex conditions. The only available studies addressing this issue concern three mosaic autosomal/gonosomal cases involving chromosome 8 (two cases) and chromosome 21 (one case), in all of which chimerism could be ruled out.1 2 A mitotic origin was inferred for both mosaic trisomy 8 cases,1 whereas the initial error in the trisomy 21 mosaic most likely occurred at meiosis.2
So far, trisomy 18 combined with monosomy X has been observed in three cases.3-5 We have recently observed a fourth patient with mosaic monosomy X/trisomy 18. We report the clinical and cytogenetic characteristics and the results of molecular analysis, which was undertaken in order to determine the origin of the aneuploid cell lines.
The female proband was the second child of healthy, unrelated parents. There was no family history of congenital anomalies or chromosome disorders. The father was 32 and the mother 34 years old at the time of her birth. She was born at term after an uneventful pregnancy and her birth weight was 3600 g. Psychomotor development was slightly delayed and she attended school up to the age of 14 years. Menarche occurred at 11 years, with regular menses up to 15 years. Thereafter, menses became progressively less frequent, until secondary amenorrhoea developed at 18 years of age.
The patient was referred for clinical and cytogenetic evaluation at the age of 23 …
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.
