Rare & Orphan Lab · DeCure for X

DeCure for Intellectual disability, autosomal recessive 65

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for intellectual disability, autosomal recessive 65 — 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 module1 genesLead labRare & Orphan
All cures
Rare & OrphanDOID:0081226$DeCureRare

The disease map

Disease moduleIntellectual disability, autosomal recessive 65 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 intellectual disability, autosomal recessive 65 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

lysine demethylase 5B (KDM5B)KDM5B 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 ogadrag to rotate · scroll to zoom

RCSB Protein Data Bank · entry 5FV3 · 2.37 Å · ligand N-OXALYLGLYCINE (OGA). Experimental structure, not a prediction.

What the evidence adds up to

No specific treatment exists for intellectual disability, including the autosomal recessive form. A 2018 review states plainly that there is no specific treatment, and care relies on coordination of multiple professionals. A 2022 review confirms that pharmacological interventions are limited, partly because the condition is poorly understood and heterogeneous, and because there are few adequate mouse models. A 2021 review focused on autosomal recessive intellectual disability notes that most genetic studies have instead highlighted de novo variants, and that autosomal recessive forms account for most cases only in inbred populations.

No drug is mentioned in any of these abstracts. No clinical trial data, no response rates, no survival figures, and no sample sizes are reported. The abstracts are reviews and general overviews, not interventional studies. They describe the clinical picture and the genetic landscape but offer no evidence for any pharmacological agent.

What is still missing is any drug candidate that has been tested in a controlled trial for autosomal recessive intellectual disability. Also missing are well-characterised animal models that recapitulate the specific genetic subtypes, and any patient stratification strategy that might identify subgroups more likely to respond to a given intervention. Funding for basic mechanistic work and for trials that account for the genetic heterogeneity of the condition remains absent.

Evidence

Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.

Residência Pediátrica · 2018 · 1 citations · open access

Inetellectual disabilities in children

AbstractMental retardation, more appropriately known as intellectual disability (ID), is a common neurologic condition in childhood and adolescence. The clinical deficits involve cognition and adaptive behavior, and its onset occurs before 18 years of age. There is a number of etiologies, ranging from prenatal, perinatal and postnatal factors to cases of genetic origin. Many genetic syndromes are associated with ID. There is no specific treatment. General care requires the participation of several professionals, while the pediatrician acts as the coordinator of referrals to a range of specialties, according to the needs of the clinical picture.

https://doi.org/10.25060/residpediatr-2018.v8s1-04
Iowa Research Online (The University of Iowa) · 2022 · 0 citations · open access

Behavioral and brain phenotypes of mouse models of Bardet-Biedl Syndrome

AbstractIntellectual disability (ID) is one of the most common neurodevelopmental disorders, affecting 1% of the population globally. Clinically, ID is characterized by a deficit in intellectual functioning and adaptive functioning. There are limited pharmacological interventions for ID, partially due to a poor understanding of ID and the heterogeneous nature of ID In addition, there are limited mouse models of ID.

https://doi.org/10.25820/etd.006578
Majmaah Journal of Health Sciences · 2021 · 0 citations · open access

Review On Clinical And Molecular Genetics Of Autosomal Recessive Intellectual Disability

AbstractIntellectual disability (ID) is a relatively common phenotype with multiple etiologies. Recent progress in the genetics of ID greatly expanded our understanding of the biological defects underlying this clinical entity. While most published cohort genetic studies on ID revealed the important contribution of de novo (germline or postzygotic) variants, we focused in this study of autosomal recessive ID (ARID), that account for most of the molecular bases in ID cases in inbred populations. We discussed the current state of ARID from a clinical, molecular and genetics standpoints.

https://doi.org/10.5455/mjhs.2021.03.010

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.