DeCure for Autosomal recessive non-syndromic intellectual disability
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for autosomal recessive non-syndromic intellectual disability — screening already-approved drugs against its 38-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleAutosomal recessive non-syndromic intellectual disability maps to a 38-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 autosomal recessive non-syndromic intellectual disability 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
mannosidase alpha class 1B member 1 (MAN1B1) — MAN1B1 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 bu1drag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 1X9D · 1.41 Å · ligand 1,4-BUTANEDIOL (BU1). 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.
Psychology and Personality · 2020 · 9 citations · open access
GENETICS OF INTELLECTUAL DISABILITY
AbstractIntellectual disability (ID) is a disorder with onset during the developmental period that includes both intellectual and adaptive functioning deficits in conceptual, social, and practical domains. The disorder has an overall general population prevalence of approximately 1%, and prevalence rates vary by age. Genetic factors play a major part in ID, especially in syndromic forms. The disorder is provoked by diverse variations of genome DNA – single nucleotide polymorphisms, single nucleotide variants, small insertions/deletions and copy number variations. The mutation can be transmitted from parents to children or happen de novo in a germline. Now there are found about 700 candidate ID genes: 100 X-linked, 200 autosomal-dominant and 400 autosomal-recessive. Non-syndromic forms of ID are associated with 92 candidate genes, of which 5 X-linked-dominant, 32 X-linked-recessive, 33 autosomal-dominant and 22 autosomal-recessive genes. Encoded proteins of most these genes take part in a formation and functioning of synapses. It should be noted that proposed ID candidate genes stand in need of a statistically significant under-statement on sufficiently large samples of patients and control individuals.
[Intellectual disability due to heterozygous c.40C>T variant of TRIP12 gene in a patient].
AbstractOBJECTIVE: To explore the genetic basis for a patient with intellectual disability. METHODS: Whole exome sequencing and Sanger sequencing were carried out for the patient. The result was verified in her family. RESULTS: DNA sequencing revealed that the patient has carried a heterozygous nonsense c.40C>T (p.Arg14X) variant of the TRIP12 gene, which was de novo in origin. The variant was unrecorded in the Human Gene Mutation Database. Based on the American College of Medical Genetics and Genomics standards and guidelines, the variant was predicted to be pathogenic (PVS1+ PS2+ PP3). CONCLUSION: The patient was diagnosed with autosomal dominant intellectual disability due to heterozygous c.40C>T variant of the TRIP12 gene.
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.
