DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Scheie syndrome — 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 moduleScheie syndrome 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 scheie syndrome 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
alpha-L-iduronidase (IDUA) — IDUA 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 1~{r},2~{r},3~{r},4~{s},6~{s}drag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 6I6R · 2.02 Å · ligand (1~{R},2~{R},3~{R},4~{S},6~{S})-6-azanyl-2,3,4-tris(oxidanyl)cyclohexane-1-carboxylic acid (H62). 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.
The Journal of Dermatology · 1976 · 1 citations
MUCOPOLYSACCHARIDOSIS WITH SPECIAL REFERENCE TO SCHEIE SYNDROME
AbstractThree patients with Scheie syndrome are reported on. They were suspected to be suffering from mucopolysaccharidosis because of clinical, histological and electron microscopic observations. The Scheie syndrome diagnosis was based on urinary GAG analysis. Chase experiments with cultured fibroblasts from one of the patients showed retarded degradation of 35SO4-labeled intracellular GAG. In addition, the pathogenesis of mucopolysaccharidoses in connection with cellular GAG metabolism is discussed.
Archives of Disease in Childhood · 2014 · 0 citations · open access
PO-0091 5 Year Old Girl With Disproportionate Short Stature With Failure To Thrive And Dysmorphism: Rare Case Of Scheie Syndrome
Abstract<h3>Background</h3> Hurler-Scheie Syndrome is an autosomal recessive mucopolysaccharidois resulting in reduced activity of α-L-iduronidase with accumulation of heparin and dermatan sulphate. Scheie syndrome represents less severely affected form with varied clinical features. <h3>Case Report</h3> 5 year female, first born child of 2nd degree consanguineous Egyptian parents, referred for short stature presented with following features. On examination: Length: 88 cm; Upper: Lower segment=1:1.3; weight: 12.3 kg; Head circumference: 51 cm Protuberant abdomen, mild proptosis, enlarged skull, prominent forehead, low set ears, simian crease, clawed hand, mild kyphosis, strabismus, normal IQ, hepatomegaly. Investigation: USG: hepatomegaly, Karyotyping normal Mild delay bone age; Elevated TSH, low T4; tissue transglutaminase normal; sweat chloride test normal; ammonia, lactate normal; growth hormone assay normal; Deficient enzyme in fibroblast confirmed diagnosis of Scheie syndrome <h3>Discussion</h3> Scheie syndrome is an autosomal recessive, rare lysosomal storage disease, with skeletal deformities and motor delay; described first in 1972; caused by mutations in <i>IDUA</i> gene (4p16.3) leading to partial deficiency in alpha-L-iduronidase enzyme and lysosomal accumulation of dermatan and heparan sulfate. Genetic testing is available. Antenatal diagnosis done by measurement of enzymatic activity in chorionic villus/ amniocytes and by genetic testing (if disease-causing mutation is known). Genetic counselling is recommended. Management is multidisciplinary including physiotherapy (to maintain range of movement); bone marrow or umbilical cord blood transplant (to preserve neurocognition, improve somatic disease and increase survival). Enzyme replacement therapy slows disease progression. <h3>Conclusion</h3> Scheie syndrome should be considered in differential diagnosis of disproportionate short stature with dysmorphism, failure to thrive with normal IQ.
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.
