DeCure for Intellectual developmental disorder, autosomal recessive 82
DeCure's autonomous Psychiatry AI scientist is researching a drug-repurposing hypothesis for intellectual developmental disorder, autosomal recessive 82 — 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 developmental disorder, autosomal recessive 82 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 developmental disorder, autosomal recessive 82 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
NOP2/Sun RNA methyltransferase 6 (NSUN6) — NSUN6 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 sfgdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 9IMB · 2.9 Å · ligand SINEFUNGIN (SFG). Experimental structure, not a prediction.
What the evidence adds up to
Intellectual developmental disorder, autosomal recessive 82 is not mentioned in any of the provided abstracts. The abstracts discuss other neurodevelopmental conditions: general intellectual developmental disorder (prevalence 1% to 3%, defined by IQ below 70 and adaptive limitations before age 18), Fragile X syndrome, PPP2R5D-related neurodevelopmental disorder (about 100 patients known globally), autosomal dominant mental disorder type 22 caused by ZBTB18 mutations (28 children reported), and a case of 8p21.2p11.21 deletion (approximately 30 patients described). No abstract reports a treatment or drug tested for intellectual developmental disorder, autosomal recessive 82.
One abstract notes that intellectual disability has historically been considered immutable and that current medical practices aim only at symptom relief, not altering cognitive deficits. A 2011 review speculated that Fragile X syndrome might become a benchmark for CNS drug discovery seeking cures, but no results from such trials are given. In the ZBTB18 case, a child with epilepsy and global developmental delay received levetiracetam and rehabilitation; seizures were controlled for nearly half a year and psychomotor and language development improved, but this is a single case, not a controlled trial, and the drug is an antiseizure medication, not a treatment for the underlying intellectual disability.
The abstract on PPP2R5D reports only the identification of a novel missense variant in one child, with no therapeutic intervention. The 8p deletion case report describes severe intellectual disability, microcephaly, epilepsy, and autism but offers no treatment data. The 2018 review emphasises that the cause remains unknown in many cases and that research is needed to elucidate the complex molecular basis.
What is still missing for intellectual developmental disorder, autosomal recessive 82 specifically: no clinical trials, no preclinical drug studies, no patient stratification, no funding directed at this exact genetic subtype, and no evidence that any existing drug alters its course. The abstracts provide no numbers for survival, response rates, or sample sizes relevant to this condition.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
CONTINUUM Lifelong Learning in Neurology · 2018 · 21 citations · open access
Evaluation of the Child With Developmental Impairments
AbstractPURPOSE OF REVIEW: This article discusses the diagnostic evaluation of intellectual developmental disorder, comprising global developmental delay and intellectual disability in children. RECENT FINDINGS: With a prevalence of 1% to 3% and substantial comorbidity, high lifetime costs, and emotional burden, intellectual developmental disorder is characterized by limitations in both intellectual functioning (IQ less than 70) and adaptive behavior starting before 18 years of age. Pinpointing the precise genetic cause is important, as it allows for accurate genetic counseling, avoidance of unnecessary testing, prognostication, and tailored management, which, for an increasing number of genetic conditions, targets the pathophysiology and improves outcomes. SUMMARY: The etiology of intellectual developmental disorder is heterogeneous, which mandates a structured approach that considers family situation, test costs, yield, and potential therapeutic tractability of the identified condition. Diagnosis of an underlying genetic cause is increasingly important with the advent of new treatments. Still, in many cases, the cause remains unknown, and research is needed to elucidate its complex molecular basis.
ACS Chemical Neuroscience · 2011 · 19 citations · open access
Fragile X Syndrome: An Update on Developing Treatment Modalities
AbstractIntellectual disability (ID; mental retardation) is considered an immutable condition. Current medical practices are aimed at relieving symptoms and not at altering the underlying cognitive deficits. Scientific advancements from the past decade have led to the exciting possibility that ID may now be treatable. Moreover, pharmaceutical therapies targeting the most common form of inherited ID, Fragile X syndrome (FXS), may become the new benchmark for central nervous system (CNS) drug discovery: seeking cures for neurodevelopmental disorders.
BioMed Research International · 2021 · 15 citations · open access
[Retracted] A Novel Missense Variant in the Gene PPP2R5D Causes a Rare Neurodevelopmental Disorder with Increased Phenotype
AbstractPPP2R5D‐related neurodevelopmental disorder, which is mainly caused by de novo missense variants in the PPP2R5D gene, is a rare autosomal dominant genetic disorder with about 100 patients and a total of thirteen pathogenic variants known to exist globally so far. Here, we present a 24‐month‐old Chinese boy with developmental delay and other common clinical characteristics of PPP2R5D‐related neurodevelopmental disorder including hypotonia, macrocephaly, intellectual disability, speech impairment, and behavioral abnormality. Trio‐whole exome sequencing (WES) and Sanger sequencing were performed to identify the causal gene variant. The pathogenicity of the variant was evaluated using bioinformatics tools. We identified a novel pathogenic variant in the PPP2R5D gene (c.620G>T, p.Trp207Leu). The variant is located in the variant hotspot region of this gene and is predicted to cause PPP2R5D protein dysfunction due to an increase in local hydrophobicity and unstable three‐dimensional structure. We report a novel pathogenic variant of PPP2R5D associated with PPP2R5D‐related neurodevelopmental disorder from a Chinese family. Our findings expanded the phenotypic and mutational spectrum of PPP2R5D‐related neurodevelopmental disorder.
[Analysis of clinical features and ZBTB18 gene variant in a child with autosomal dominant mental disorder type 22].
AbstractOBJECTIVE: To analyze the clinical characteristics and ZBTB18 gene variant in a child with epilepsy and global developmental delay. METHODS: Clinical data and laboratory examination of the patient were reviewed. Whole exome sequencing (WES) was also carried out for the family trio. RESULTS: The main manifestations of the child included global developmental delay, short stature, epileptic seizures. EEG revealed frequent occurrence of sharp (slow) waves in the right central region during sleeping, with sharp waves occasionally seen in the frontal and right posterior temporal regions. Cranial MRI has shown no obvious abnormality. WES has identified a de novo pathogenic variant in the ZBTB18 gene [NM_205768.3: exon 2: c.1282_1283del (p.Phe428Leufs*72)]. Based on the guidelines from American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PS2+PVS1_Moderate+PM2_Supporting). Following treatment with levetiracetam and rehabilitation, the seizures have been controlled for nearly half a year, with improvement of the psychomotor and language development. So far 28 children have been discovered with ZBTB18 gene mutations, and there was a significant difference in the clinical phenotypes of motor retardation, language retardation and epilepsy between those harboring frameshift/nonsense mutations and missense mutations. CONCLUSION: The c.1282_1283del (p.Phe428leufs *72) variant of the ZBTB18 probably underlay the autosomal dominant mental disorder type 22 in this child. Compared with missense mutations, frameshift/nonsense mutations may predispose more to motor retardation, delayed language development and epilepsy.
Clinical Case Reports · 2020 · 2 citations · open access
Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review
AbstractInterstitial 8p deletions were previously described, in literature and databases, in approximately 30 patients with neurodevelopmental disorders. We report on a novel patient with a 8p21.2p11.21 deletion presenting a clinical phenotype that includes severe intellectual disability, microcephaly, epilepsy, and autism, the latter having been rarely associated with this genetic defect.
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.
