DeCure for Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome — 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 moduleCorpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 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 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 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
immunoglobulin binding protein 1 (IGBP1) — IGBP1 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 4IYP · 2.797 Å · ligand none (apo structure). Experimental structure, not a prediction.
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 Case Reports · 2020 · 16 citations · open access
Isolated agenesis of the corpus callosum and normal general intelligence development during postnatal life: a case report and review of the literature
AbstractBACKGROUND: Agenesis of the corpus callosum can occur isolated or as part of a complex congenital syndrome. Patients with isolated agenesis of the corpus callosum may present with severe intellectual disability, although a proportion of affected individuals develop normal intelligence. However, even in patients with no apparent deficits, subtle neuropsychological alterations may occur as the cognitive demand increases with age. Hence, patients with this deffect require a strict follow-up during their postnatal life. Thus, physicians require a better knowledge of the cognitive features of agenesis of the corpus callosum to improve their approach to this cerebral malformation. Here, we report an illustrative case of a school-age child with isolated agenesis of the corpus callosum and normal intelligence. We also provide a literature review about the postnatal screening of neurocognitive deficits in patients with agenesis of the corpus callosum. CASE PRESENTATION: An 8-year-old Hispanic boy with total agenesis of the corpus callosum attended for medical follow-up. The defect was identified during the neonatal period by cranial ultrasonography and brain computed tomography scan. However, he did not present any craniofacial or non-cerebral malformation suggestive of a congenital syndrome. Furthermore, he showed no neuropsychiatric disorder or intellectual disability during his early childhood. At the age of 4, he was subjected to a control brain magnetic resonance imaging that showed total agenesis of the corpus callosum and colpocephaly. At his arrival, a neurological examination was normal with no signs of intracranial hypertension. His intelligence quotient was unaltered and he scored normal in the Mini-Mental State Examination test. The literature reviewed here suggested that patients with agenesis of the corpus callosum require a strict neurocognitive follow-up during postnatal life, as they may present neuropsychological deficits during adolescence, when development of the corpus callosum is completed and there is maximum reliance on this structure. Thus, our patient was scheduled for future annual neurocognitive testing. CONCLUSIONS: Isolated agenesis of the corpus callosum is not innocuous, and patients with this defect require a strict neurocognitive follow-up. We provide an informative reference tool useful for the postnatal neuropsychological screening of patients with isolated agenesis of the corpus callosum.
SAS Journal of Medicine · 2023 · 0 citations · open access
Microdeletion 3q13.31 and Agenesis of the Corpus Callosum in a Patient with Intellectual Disability and Autism Spectrum Disorder: A Case Report
AbstractTotal agenesis of the corpus callosum (ACC) is a rare condition characterized by the absence of corpus callosum formation during fetal development. It can occur in isolation or be associated with congenital syndromes, including the emerging microdeletion syndrome 3q13.31. This syndrome, caused by a deletion in the long arm of chromosome 3, presents with developmental delay, growth abnormalities, craniofacial dysmorphology, skeletal malformations, genital anomalies, and agenesis of the corpus callosum. The case of a 7½-year-old boy with microdeletion 3q13.31 is described, highlighting common clinical manifestations observed in this syndrome. The patient exhibited delayed psychomotor development, language delay, autism spectrum disorder, intellectual disability, facial dysmorphology, and agenesis of the corpus callosum. Comparison with existing literature showed similarities in features such as delayed development, language delays, intellectual disability, and brain anomalies. The 3q13.31 microdeletion syndrome encompasses a wide range of clinical phenotypes, and the identification of responsible genes contributes to understanding the condition, although treatment remains challenging.
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.
