DeCure for Intellectual disability, autosomal recessive 6
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for intellectual disability, autosomal recessive 6 — 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 recessive 6 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 6 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
glutamate ionotropic receptor kainate type subunit 2 (GRIK2) — GRIK2 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 2r,3ar,6r,7r,7ardrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 3QXM · 1.65 Å · ligand (2R,3aR,6R,7R,7aR)-2-[(2S)-2-amino-2-carboxyethyl]-6,7-dihydroxyhexahydro-2H-furo[3,2-b]pyran-2-carboxylic acid (NDZ). Experimental structure, not a prediction.
What the evidence adds up to
Three unrelated consanguineous families with deleterious homozygous variants in NSUN6 were identified in a 2023 study. Two variants are predicted loss-of-function; one maps to the first exon and is predicted to lead to absence of NSUN6 via nonsense-mediated decay, the other maps to the last exon and encodes a protein that does not fold correctly. A missense variant in the third family lost enzymatic activity and cannot bind the methyl donor S-adenosyl-L-methionine. Affected individuals present with developmental delay, intellectual disability, motor delay, and behavioural anomalies. Homozygous ablation of the NSUN6 ortholog in Drosophila led to locomotion and learning impairment. The authors conclude that biallelic pathogenic variants in NSUN6 cause one form of autosomal recessive intellectual disability.
A 2025 case report describes a 15-year-old boy with intellectual disability and inappropriate, challenging sexual behaviour who was treated with GNRH analogues. The report states that traditional treatments often fail to treat and improve such behaviour, and that alternative treatment options need to be explored. No efficacy data, response rates, or sample sizes beyond the single case are given.
A 2022 review on homoeopathic management of intellectual disability disorder states that the condition has a global prevalence of about 6 to 8%. The review asserts that homoeopathic medicine will remove the disease from the root cause, but provides no patient data, no controlled trial results, and no measurable outcomes. A 2017 chapter on intellectual disability outlines current understanding of aetiology, clinical features for severe/profound, moderate, and mild intellectual disability, and common psychiatric presentations including mood disorders, anxiety disorders, and dementia. It discusses Down’s syndrome and fragile X, and emphasises prevention of mental health problems and management of challenging behaviours.
What is still missing: no clinical trial has tested any drug specifically for autosomal recessive intellectual disability caused by NSUN6 variants. The GNRH analogue report is a single case with no controls. The homoeopathic review offers no evidence. No therapy has been shown to alter the course of the NSUN6-related disorder in humans. Funding for natural history studies, patient registries, and preclinical work on NSUN6 function is absent. Stratification by genetic subtype is not yet possible outside research settings.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Genetics in Medicine · 2023 · 20 citations · open access
Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder
AbstractPURPOSE: 5-methylcytosine RNA modifications are driven by NSUN methyltransferases. Although variants in NSUN2 and NSUN3 were associated with neurodevelopmental diseases, the physiological role of NSUN6 modifications on transfer RNAs and messenger RNAs remained elusive. METHODS: We combined exome sequencing of consanguineous families with functional characterization to identify a new neurodevelopmental disorder gene. RESULTS: We identified 3 unrelated consanguineous families with deleterious homozygous variants in NSUN6. Two of these variants are predicted to be loss-of-function. One maps to the first exon and is predicted to lead to the absence of NSUN6 via nonsense-mediated decay, whereas we showed that the other maps to the last exon and encodes a protein that does not fold correctly. Likewise, we demonstrated that the missense variant identified in the third family has lost its enzymatic activity and is unable to bind the methyl donor S-adenosyl-L-methionine. The affected individuals present with developmental delay, intellectual disability, motor delay, and behavioral anomalies. Homozygous ablation of the NSUN6 ortholog in Drosophila led to locomotion and learning impairment. CONCLUSION: Our data provide evidence that biallelic pathogenic variants in NSUN6 cause one form of autosomal recessive intellectual disability, establishing another link between RNA modification and cognition.
Psychopharmacology Bulletin · 2025 · 2 citations · open access
Case Report: A Case of Intellectual Disability with Inappropriate and Challenging Sexual Behavior that was Treated with GNRH Analogues
AbstractIntellectual Disability starts within the course of developmental stages and covers both intellectual and adaptive deficiencies in conceptual, social and applied fields. Individuals with intellectual disability experience many difficulties in social life due to challenging and inappropriate sexual behaviour. Suchdifficulties need to be addressed, reduced or treated. Traditional treatments often fail to treat and improve suchbehavior. Alternative treatment options need to be explored with studies conducted in this field. With this paper, we aimed to show and touch on alternative treatments for challenging and inappropriate behaviors of a 15-year old boy with intellectual disability, who was treated with GNRH analogues.
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.
Oxford University Press eBooks · 2017 · 0 citations
Intellectual disability (mental retardation)
Abstract‘Intellectual disabilities’ covers the life course, with a focus on the assessment and treatment of the intellectual disabilities at younger ages. This chapter outlines current understanding of the aetiology of the more common intellectual disabilities. The clinical features are discussed for severe/profound, moderate, and mild intellectual disability, and the more common psychiatric presentations for those with intellectual disabilities. Mood disorders, anxiety disorders, and dementia are discussed in greater detail, as are the more common presentations of intellectual disability, with sections on Down’s syndrome and fragile X. The importance of prevention of mental health problems and better understanding and management of more challenging behaviours are discussed alongside other treatments for psychiatric disorders.
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.
