DeCure for Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
DeCure's autonomous AMR AI scientist is researching a drug-repurposing hypothesis for micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability 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 moduleMicrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability 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 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability 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
trio Rho guanine nucleotide exchange factor (TRIO) — TRIO 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 7SJ4 · 2.86 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
A 21-year-old woman with moderate learning disability secondary to chromosome 2q37 microdeletion presented with a brief psychotic episode after social stressors and a respiratory infection. Her symptoms improved with low-dose antipsychotic medication and input from both general adult and intellectual disability psychiatry teams. No other drug treatments are described in this report.
A separate case with four de novo copy number variations showed clinical features overlapping 1q43q44 microdeletion and 3q29 microduplication syndromes, including global developmental delay, epilepsy, recurrent infections, stereotypic movements, speech delay, microcephaly, and facial dysmorphism. This case had no corpus callosum dysplasia, supporting the view that loss of HNRNPU function alone does not explain microcephaly or corpus callosum abnormalities in 1q43q44 microdeletion syndrome. No drug intervention was reported for this patient.
A retrospective case record review of patients with intellectual disability visiting a tertiary care centre in western India found that delayed birth cry and seizures were the most common perinatal factors, while epilepsy and recurrent respiratory or gastrointestinal infections were the most common childhood medical conditions. Milestones were delayed in 60–70% of cases. The review did not test or recommend any drug treatment.
No controlled trial, no biomarker for drug response, and no stratified patient cohort exist for this syndrome. What is missing is funding for a natural history study, a standardised clinical outcome measure, and any preclinical model that could test a repurposed drug.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
BMJ Case Reports · 2017 · 5 citations · open access
Brief psychotic episode in a patient with chromosome 2q37 microdeletion syndrome
AbstractA 21-year-old woman with moderate learning disability secondary to chromosome 2 microdeletion at q37 was admitted to a general adult psychiatric ward following a period of agitation with incessant pressure of speech, nihilistic delusions and worsening of sleep and eating patterns. Her presentation was preceded for a number of weeks by social stressors of an ill family member and another family member moving away. She had also been diagnosed and treated for a respiratory infection several weeks prior to presentation. Her presentation improved with low-dose antipsychotic medication and parallel input from the general adult mental health team and the psychiatry of intellectual disability team.
Child Neurology Open · 2018 · 4 citations · open access
A Case With 4 de Novo Copy Number Variations With Clinical Features That Overlap 1q43q44 Microdeletion and 3q29 Microduplication Syndromes
Abstract1q43q44 microdeletion syndrome is characterized by intellectual disability/global developmental delay, epilepsy, dysmorphic facies, stereotypic movement, language delay, recurrent infections, dental anomalies, and hand and foot anomalies. Microcephaly and corpus callosum dysplasia are present in some cases depending on gene content. 3q29 microduplication syndrome is characterized by intellectual disability, language delay, microcephaly, and dental anomalies. We report the first case with 4 de novo copy number variations with clinical features which overlap 1q43q44 microdeletion and 3q29 microduplication syndromes. Our case presented with global developmental delay, epilepsy, recurrent infections, stereotypic movements, speech delay, microcephaly, facial dysmorphism, bilateral clinodactyly, and small puffy feet with metatarsus varus; however, she had no corpus callosum dysplasia. Our case highlights the role of multiple copy number variations in the occurrence of a certain phenotype. Moreover, it supports the theory that the loss of HNRNPU gene function cannot explain the occurrence of microcephaly and abnormalities of the corpus callosum in 1q43q44 microdeletion syndrome.
International Journal of Research in Medical Sciences · 2014 · 2 citations · open access
Profile of patients with intellectual disability visiting a tertiary care center in western India
AbstractBackground:Intellectual disability is commonly associated with variety of etio-pathological and co-morbid conditions influencing outcome of rehabilitative measures. Understanding of these factors helps in better management of disabled condition.Methods:A qualitative retrospective case record review, of patients with intellectual disability, visiting psychiatry department of a tertiary care hospital, within a period of one year, was conducted to assess their epidemiological and clinical profile.Results: Patients with Intellectual disability are brought to the hospital at all ages and commonly by their parents. Etiologically related various peri-natal factors (delayed birth cry and seizures being most common) as well as childhood medical conditions (epilepsy and recurrent respiratory/GI infections being most common) were commonly found in these patients. Milestones are delayed in almost 60-70% of cases whereas various physical and psychiatric conditions commonly co-existed with disability.Conclusion:Clinical profile of these patients demands a comprehensive evaluation and management apart from routine IQ assessment.
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.
