DeCure for Intellectual developmental disorder, autosomal dominant 68
DeCure's autonomous Psychiatry AI scientist is researching a drug-repurposing hypothesis for intellectual developmental disorder, autosomal dominant 68 — 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 dominant 68 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 dominant 68 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
lysine methyltransferase 2B (KMT2B) — KMT2B 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 sahdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 7BRE · 2.803 Å · ligand S-ADENOSYL-L-HOMOCYSTEINE (SAH). Experimental structure, not a prediction.
What the evidence adds up to
The 2021 case report describes a single patient with a de novo, previously unrecorded pathogenic nonsense variant (c.40C>T, p.Arg14X) in the TRIP12 gene, diagnosed with autosomal dominant intellectual disability. No treatment is mentioned. The 2011 review states that intellectual disability was long considered immutable and that current medical practice aims only at symptom relief, not altering cognitive deficits. It notes that fragile X syndrome research might become a benchmark for seeking cures for neurodevelopmental disorders, but this is a forward-looking statement, not a result.
The 2022 review on Bardet-Biedl syndrome mouse models states plainly that there are limited pharmacological interventions for intellectual disability, partly due to poor understanding of the disorder and a lack of adequate mouse models. The 2023 paper on balanced chromosomal translocations concludes that cryptic genomic imbalances causing intellectual disability are very rare, and that new sequencing technologies could improve prenatal diagnosis. No drug or treatment is tested or proposed in any of these abstracts.
The 2025 paper describes two new patients with biallelic TAF13 variants causing autosomal recessive intellectual developmental disorder 60, adding a previously unreported feature of 46,XY disorder of sex development. It calls for comprehensive functional studies to understand the underlying mechanisms. Across all five abstracts, no drug is administered, no trial is reported, and no response or survival data exist. What is missing is any clinical trial, any pharmacological intervention tested in patients with TRIP12-related or TAF13-related intellectual disability, and any patient stratification or funding for such studies.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Journal of Medical Genetics · 1976 · 35 citations · open access
Familial essential ("benign") chorea.
AbstractA family is described with essential non-progressive chorea occurring in an autosomal dominant inheritance pattern over four generations. A few families with an apparently similar disorder have been reported previously. This condition is characterized by early childhood onset of chorea which is not progressive and is compatible with a long life. It is not associated with dementia, seizures, rigidity, or ataxia. It is a socially embarrassing condition and may, sometimes, be associated with behavioural problems and learning difficulties. For genetic counselling, it is important to distinguish this disorder from Huntington's disease and other hereditary disorders associated with chorea.
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.
[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.
DOAJ (DOAJ: Directory of Open Access Journals) · 2023 · 0 citations · open access
How might a balanced chromosomal translocation lead to a spectrum of intellectual disabilities in newborns?
AbstractBackground: Intellectual disability (ID) consists of a broad range of disorders characterized by low general intellectual functioning (IQ below 70). ID etiologic causes are heterogeneous, ranging from environmental to chromosomal and monogenic conditions. Although many autosomal genes responsible for ID are expected, but only a small number of these have been identified and up to now most progress has been made in the area of X-linked translocation ID; but many autosomal chromosome genes play a crucial role in the development of a central nervous system. Any change which lead to lose or reduce the function or change the expression of them; high or low, even have a damaging effect on the functional protein might lead to different phenotype like developmental delay, growth retardation or intellectual disabilities. Result & conclusion: In this paper, we discuss the importance of balanced chromosomal translocations in the etiologic cause of newborn intellectual disabilities. Balanced translocation is the result of breaking off two chromosomes and reattached in a way that the sections of two chromosomes have switched places. These rearrangements are found as de novo events in 1/2,000 live births and give rise to some congenital anomalies which is the product of submicroscopic deletions, duplications, inversion or disruption, activation, or inactivation of a gene or different genes located at or near the breakpoints in the basepair level. These apparently balanced translocations due to positional effect lead to occur abnormal phenotype. In conclusion, Cryptic genomic imbalances cause mentality are very rare condition but new technologies like NGS long-read genome sequencing could detect rapid breakpoint effects on live birth healthy and discover a new way for prenatal diagnosis.
American Journal of Medical Genetics Part A · 2025 · 0 citations
Two New Families With <scp> <i>TAF13</i> </scp> Variant Presenting With Syndromic 46, <scp>XY</scp> Disorder of Sex Development: Expanding the Clinical Phenotype
AbstractIntellectual developmental disorder, autosomal recessive 60 (MRT60, #617432) is an ultrarare genetic disorder characterized by microcephaly, intellectual disability, growth retardation, seizure, and central nervous system abnormalities. The disease is caused by biallelic variants in the TATA box-binding protein-associated factor gene (TAF13) gene. To date, only four patients with MRT60 have been reported in the literature. In this study, two new patients were presented, exhibiting similar phenotypic features including microcephaly, intellectual disability, and prominent growth retardation. Whole exome analysis revealed a pathogenic variant (c.119T>A p.Met40Lys) in the TAF13 gene. The 46,XY disorder of sex development was only present in the current patients and is a new finding for this ultrarare disorder. Since TAF13 plays a role in transcriptional regulation, it is believed to potentially cause gonadal dysfunction. To obtain a better understanding of this disorder, it is essential to conduct comprehensive functional studies that can provide deeper insights into the underlying mechanisms.
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.
