DeCure for Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations — 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 moduleMega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 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 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 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
microtubule associated serine/threonine kinase 1 (MAST1) — MAST1 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 3PS4 · 1.85 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.
The Turkish Journal of Pediatrics · 1999 · 4 citations · open access
Associated brain abnormalities in patients with corpus callosum anomalies
AbstractForty-nine patients with corpus callosum (CC) anomalies were evaluated in terms of the clinical features and magnetic resonance imaging (MRI) findings. CC anomalies were classified as CC agenesis: 6 (12%), CC hypogenesis: 5 (10%), and CC hypoplasia: 38 (78%). In the CC hypoplasia group the mean value of the genu thickness of the CC was 0.29 +/- 0.1 cm, which was less than the normal value of the age-matched normal children (normal range: 0.6-1.2 cm). The associated brain abnormalities were in five distinct groups: gray matter abnormalities, white matter abnormalities, midline brain structure defects, cortical atrophy, and encephalomalacia. There was no uniformity for the clinical spectrum of CC anomalies. Microcephaly, developmental delay and seizures were the prominent findings in patients. The clinical features were more severe in cases with associated brain anomalies.
Annals of Child Neurology · 2021 · 0 citations · open access
A MAST1 Mutation Underlying Mega-Corpus Callosum Syndrome with Extended Phenotypes: The First Case in Korea
AbstractMega-corpus callosum is a rare radiological finding. It is a characteristic finding of diseases such as Cohen syndrome, neurofibromatosis (NF), megalencephaly-polymicrogyria-mega-corpus callosum (MEG-PMG-MegaCC, MIM#603387) syndrome or mega-corpus callosum syndrome with cortical malformations (MCC-CM, MIM #618273) Such diseases are characterized by specific phenotypes such as neurofibromas in NF; non-progressive mental retardation and microcephaly in Cohen syndrome; megalocephaly and polymicrogyria in MEG-PMG-MegaCC; and normocephaly and cortical malformation, with or without cerebellar hypoplasia in MCC-CM. The knowledge of these specific phenotypes could facilitate the differentiation of these conditions from each other. However, MCC-CM has been reported to be a phenotype of MEG-PMG-MegaCC The detection of pathogenic variants in the microtubule associated serine/threonine kinase 1 (MAST1, MIM*612256) gene, which plays a role in human brain development and its relationship with neurodevelopmental phenotypes, has distinguished MCC-CM as a condition distinct from
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.
