DeCure for Intellectual disability, autosomal dominant 53
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for intellectual disability, autosomal dominant 53 — 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 moduleIntellectual disability, autosomal dominant 53 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 dominant 53 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
calcium/calmodulin dependent protein kinase II alpha (CAMK2A) — CAMK2A 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 6W4O · 4.8 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
Intellectual disability, autosomal dominant 53 is one of many genetic forms of a disorder that affects roughly 1% of the population globally. The condition is defined by impairments in both intellectual and adaptive functioning. Genetic factors are a major cause, particularly in syndromic forms. There are now about 200 autosomal-dominant candidate genes for intellectual disability, though the authors of a 2020 genetics review stress that proposed candidate genes still need statistically significant confirmation on sufficiently large samples of patients and controls. The encoded proteins of most identified genes are involved in the formation and functioning of synapses.
No specific pharmacological interventions for intellectual disability are described in these abstracts. A 2022 review notes that there are limited pharmacological interventions for intellectual disability, partly due to a poor understanding of the disorder and its heterogeneous nature, as well as a lack of adequate mouse models. A 2020 review of outcome measures states that tools designed to assess intellectual and adaptive functioning have rarely been used as primary outcome measures in treatment trials, and further study is needed on their usefulness for measuring change. The same review suggests possible solutions including out-of-age-range testing, alternative metrics, and development of new measures.
No drug, treatment, or clinical trial data for any form of intellectual disability is reported in these abstracts. There are no concrete numbers for survival, response rates, or sample sizes because no intervention studies are described. The 2022 review explicitly states there are limited pharmacological interventions, and the 2020 outcome-measures review notes that promising mechanism-modifying treatments are being initiated but does not name any.
What is still missing is a validated outcome measure capable of detecting change in core intellectual and adaptive functioning, sufficient genetic confirmation of candidate genes in large cohorts, and adequate animal models for preclinical testing. No trial design or patient stratification strategy for autosomal dominant 53 specifically is mentioned in any of these abstracts.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
American Journal on Intellectual and Developmental Disabilities · 2020 · 35 citations
Outcome Measures for Core Symptoms of Intellectual Disability: State of the Field
AbstractIntellectual disability (ID) is defined by impairments in intellectual and adaptive functioning. As such, tools designed to assess these domains would theoretically be ideal outcome measures for treatment trials targeting core symptoms of ID. However, measures of intellectual and adaptive functioning have rarely been used as primary outcome measures to date and further study is needed regarding their usefulness to measure change. This area of inquiry is important because promising, mechanism-modifying treatments for conditions leading to ID are being initiated. To show efficacy, these treatments need to demonstrate an impact on core features of ID. After reviewing literature on this topic, we suggest solutions to several problems outlined, including use of out-of-age-range testing, alternative metrics, and development of new measures.
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.
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.
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.
