DeCure for Intellectual disability, autosomal dominant 24
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for intellectual disability, autosomal dominant 24 — screening already-approved drugs against its 3-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 24 maps to a 3-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 24 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
discs large MAGUK scaffold protein 4 (DLG4) — DLG4 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 gshdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 6SPV · 2.04 Å · ligand Glutathione (GSH). Experimental structure, not a prediction.
What the evidence adds up to
A 2019 study identified a 564 kb deletion on chromosome 2q24.2 containing only the TANK gene in two siblings with mild non-syndromic intellectual disability and their similarly affected father. This was the first time TANK had been linked to any human disease. The deletion was inherited, suggesting haploinsufficiency of TANK as a cause of non-syndromic intellectual disability. However, when the authors screened 288 patients with non-syndromic mental retardation who did not have TANK deletions, they found no pathogenic TANK mutations. A 2021 case report described a patient with intellectual disability carrying a de novo heterozygous nonsense variant in TRIP12 (c.40C>T, p.Arg14X), classified as pathogenic under ACMG criteria. That variant had not been recorded in the Human Gene Mutation Database.
A 2022 review noted that intellectual disability affects about 1% of the population globally and that pharmacological interventions are limited, partly because of poor understanding of the condition and its heterogeneity. The same review stated that there are few mouse models of intellectual disability. Another 2022 review reported a global prevalence of intellectual disability of 6 to 8% and claimed that homeopathic medicine could remove the disease from its root cause, but provided no trial data or patient outcomes to support that claim. A 2021 review of Down syndrome described it as a major cause of intellectual disability but offered no new experimental findings.
What is still missing are large-scale sequencing studies to confirm TANK as a cause of intellectual disability beyond the single family, functional studies of the TRIP12 variant, and any pharmacological or interventional trials for either gene. No drug is mentioned in any of these abstracts. No treatment, homeopathic or otherwise, has been tested in a controlled trial for these specific genetic forms of intellectual disability.
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 of Medical Genetics Part A · 2019 · 3 citations
A 2q24.2 microdeletion containing <i>TANK</i> as novel candidate gene for intellectual disability
AbstractInterstitial deletions within the chromosomal region 2q24.2 have already been linked to intellectual disability (ID) in the past. In most cases the described patients showed a syndromic form of ID associated with large deletions containing multiple genes. Here we describe a family with two siblings with mild non-syndromic ID. They shared the same 564 kb deletion in the chromosomal region 2q24.2 containing only the TANK gene, which was inherited from the similarly affected father, thus suggesting haploinsufficiency of TANK as a novel cause of non-syndromic ID. TANK encodes the TRAF family member-associated NF-kappa-B activator (OMIM #603893), which is expressed in many tissues. It functions as an adapter protein that interacts with the NF-kappa-B pathway and SOX11, an essential transcription factor in regeneration, survival and differentiation of the neuronal system. TANK has not been linked to ID or other human diseases before. To further elucidate the role of TANK in non-syndromic ID, we screened a cohort of 288 TANK deletion negative non-syndromic mental retardation patients for TANK mutations without identifying any pathogenic variant.
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
[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.
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.
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.
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.
