Rare & Orphan Lab · DeCure for X

DeCure for Intellectual disability, autosomal dominant 22

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for intellectual disability, autosomal dominant 22 — 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
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Rare & OrphanDOID:0070052$DeCureRare

The disease map

Disease moduleIntellectual disability, autosomal dominant 22 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 22 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

zinc finger and BTB domain containing 18 (ZBTB18)ZBTB18 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 8P2P · 4.15 Å · ligand none (apo structure). Experimental structure, not a prediction.

What the evidence adds up to

The abstracts provided do not address autosomal dominant intellectual disability 22. The 2020 and 2021 papers discuss Down syndrome (trisomy 21), a distinct genetic syndrome, not autosomal dominant intellectual disability 22. The 2022 paper is a general review of intellectual disability disorder and proposes a homeopathic management approach, but it reports no patient data, no measured outcomes, and no evidence of efficacy. The 2025 paper describes a Pakistani family with autosomal recessive intellectual disability (MRT 48) caused by a biallelic SLC6A17 variant; this is a recessive, not dominant, condition and involves a different gene than the one associated with autosomal dominant intellectual disability 22.

No drug, intervention, or treatment is mentioned in any of these abstracts for any form of intellectual disability. The 2022 paper states its purpose is to find the effectiveness of homeopathic medicine but provides no results, numbers, or evidence. The 2025 paper only reports a genetic finding and does not test any therapy.

For autosomal dominant intellectual disability 22 specifically, no clinical trial, drug repurposing study, or treatment data exist in these abstracts. What is missing is any funded research targeting this specific genetic condition, a properly designed clinical trial with a defined patient population, and stratification by the underlying genetic mutation.

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 Turkish Journal of Pediatrics · 2020 · 7 citations · open access

Neurocognitive abilities in individuals with Down syndrome-a narrative review

AbstractDown syndrome (DS), or trisomy 21, is the most common genetic syndrome associated with intellectual disability. Despite the variability in expression, there is a distinct developmental phenotype characterized by deficits in learning/memory, executive functions, and language skills accompanying the psychomotor delay. The severity of intellectual impairment has the dominant effect on functioning, other influences such as parental and societal attitudes, supports available and social opportunities also play a role in the attainment of skills.

https://doi.org/10.24953/turkjped.2020.06.001
Pharmacophore · 2021 · 1 citations

Down syndrome Clinical features, and it's Associated Complications Evaluation and Management Approach

AbstractTrisomy 21 (T21), or Down syndrome (DS), is one of the major causes of intellectual disability, this has been analyzed to differ in every individual by the intelligence quotient (IQ) test irrespective of other factors. It is a genetic disorder characterized by an extra copy of chromosome 21. PubMed database was used for searching relevant papers, and the following keys were used in the mesh (("Down syndrome " [Mesh]) AND ("Features and diagnosis" [Mesh]) OR ("Down syndro

https://doi.org/10.51847/n81ofvwvph
International Journal of Homoeopathic Sciences · 2022 · 0 citations · open access

An overall review on intellectual disability disorder and its homoeopathic management

AbstractThe Intellectual Disability Disorder is found as a one of the clinical manifestations of the rare disorders which occupies a total prevalence of about 6 to 8% globally. The rare disorder is found to cause many of the chronic disabilities in which the intellectual disability disorder is one of them which has a drastic impact on the individual who is affected and their families and includes the health care system. The onset period of the rare disorder begins from the prenatal period into the late adulthood and it is being assessed that about the half of the individual affected are children [1]. The prime and the only purpose of this study undertaken is to find the effectiveness of the homoeopathic medicine in the treatment of the Intellectual Disability Disorder and also to alter their intellectual and the adaptive functions of the affected individual. The homoeopathic medicine will remove the disease from the root cause.

https://doi.org/10.33545/26164485.2022.v6.i3d.618
Clinical Genetics · 2025 · 0 citations

Biallelic Variant in <scp> <i>SLC6A17</i> </scp> in a Pakistani Family With Autosomal Recessive Intellectual Disability

AbstractAutosomal recessive intellectual disability affects 1%-3% of the general population and is a major concern in countries where consanguineous marriages are common. Mental retardation autosomal recessive 48 (MRT 48) (OMIM 616269) is a recessive syndromic disorder characterized by progressive tremors, speech impairment, and behavioral problems. In the present study, we highlight a family with a case of MRT 48. The index patient was second born to healthy consanguineous parents with a history of intellectual disability. Whole exome sequencing of the patient was performed, which revealed a homozygous c.1693T>C;p.(Tyr565His) variant in the SLC6A17 gene. The variant segregated in the extended family with the phenotype. This study broadens the genotypic spectrum of SLC6A17 variants.

https://doi.org/10.1111/cge.70055

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.