Rare & Orphan Lab · DeCure for X

DeCure for Porencephaly

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for porencephaly — screening already-approved drugs against its 2-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.

Disease module2 genesLead labRare & Orphan
All cures
Rare & OrphanDOID:0060263$DeCureRare

The disease map

Disease modulePorencephaly maps to a 2-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 porencephaly 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

collagen type IV alpha 1 chain (COL4A1)COL4A1 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 5NAY · 1.8 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.

Science · 2005 · 533 citations

Mutations in <i>Col4a1</i> Cause Perinatal Cerebral Hemorrhage and Porencephaly

AbstractPorencephaly is a rare neurological disease, typically manifest in infants, which is characterized by the existence of degenerative cavities in the brain. To investigate the molecular pathogenesis of porencephaly, we studied a mouse mutant that develops porencephaly secondary to focal disruptions of vascular basement membranes. Half of the mutant mice died with cerebral hemorrhage within a day of birth, and approximately 18% of survivors had porencephaly. We show that vascular defects are caused by a semidominant mutation in the procollagen type IV alpha 1 gene (Col4a1) in mice, which inhibits the secretion of mutant and normal type IV collagen. We also show that COL4A1 mutations segregate with porencephaly in human families. Because not all mutant mice develop porencephaly, we propose that Col4a1 mutations conspire with environmental trauma in causing the disease.

https://doi.org/10.1126/science.1109418
American Journal of Psychiatry · 1939 · 1 citations

PSYCHIATRIC ASPECTS OF PORENCEPHALY

AbstractSeven cases of porencephaly are presented from a psychiatric point of view. Patients with lesions in the frontal lobes seemed to present a slightly different picture from that of patients with lesions in other parts of the brain. The group, however, did not present any features which are thought to be specific for this type of epileptic patient, except perhaps a rather consistently occurring inability to concentrate. It is felt that the diagnosis of porencephaly should not be ruled out in the case of any epileptic until even slight neurological irregularities have been investigated. Porencephalics may exhibit abnormalities of behavior in many spheres for years before any convulsive phenomena occur. Patients with porencephaly should receive social and psychiatric as well as medical and surgical treatment.

https://doi.org/10.1176/ajp.96.3.723

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.