Rare & Orphan Lab · DeCure for X

DeCure for Bilateral frontoparietal polymicrogyria

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for bilateral frontoparietal polymicrogyria — 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 module1 genesLead labRare & Orphan
All cures
Rare & OrphanDOID:0080922$DeCureRare

The disease map

Disease moduleBilateral frontoparietal polymicrogyria 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 bilateral frontoparietal polymicrogyria 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

adhesion G protein-coupled receptor G1 (ADGRG1)ADGRG1 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 7SF8 · 2.7 Å · ligand none (apo structure). Experimental structure, not a prediction.

What the evidence adds up to

Bilateral frontoparietal polymicrogyria is an autosomal recessive cortical malformation. GPR56 is the only confirmed gene associated with it. Four patients from different Indian families with a distinct clinicoradiologic profile resembling congenital muscular dystrophy had mutations in GPR56. Antenatal diagnosis is possible if the index case is genetically confirmed. No muscle disease or characteristic eye abnormalities of congenital muscular dystrophy are detected in these children.

Thirteen patients with symmetric polymicrogyria of both frontal lobes back to the precentral sulcus, termed bilateral frontal polymicrogyria, were described. The abnormal cortex extended from the frontal poles to the precentral gyrus and frontal operculum. All 13 presented with developmental delay and mild spastic quadriparesis; 12 of 13 had variably impaired language development, 11 of 13 had mental retardation, and 5 of 13 had epilepsy. Bilateral frontal polymicrogyria was sporadic in all 13 patients, but 2 of 13 had consanguineous parents.

A case report described a young male with bilateral superior frontal and parafalcine frontoparietal polymicrogyria who had mild intellectual disability, intractable seizures, and personality changes. Intellectual disability, global developmental delay, epilepsy, language deficits, and motor deficits are commonly reported in patients with polymicrogyria.

No clinical trial data exist for any drug in bilateral frontoparietal polymicrogyria. What is missing is any trial design, any patient stratification beyond genetic confirmation of GPR56 mutations, and any funding for interventional 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.

Neurology · 2000 · 127 citations

Bilateral frontal polymicrogyria

AbstractBACKGROUND AND OBJECTIVE: Polymicrogyria is a brain malformation characterized by abnormal cortical lamination, excessive cortical folding, and fusion of the cortical molecular layer. Two distinct bilateral localized forms have been described: bilateral perisylvian polymicrogyria, which has proved to be genetically heterogeneous, and bilateral parasagittal parieto-occipital polymicrogyria, which has been described only in sporadic patients. We describe 13 patients with symmetric polymicrogyria of both frontal lobes back to the precentral sulcus: bilateral frontal polymicrogyria (BFP). METHODS: Review of clinical records, brain MRI, and EEG results of 13 patients; correlation with other regional polymicrogyrias. RESULTS: The abnormal cortex extended from the frontal poles anteriorly to the precentral gyrus posteriorly and to the frontal operculum inferiorly and was relatively symmetric in all 13 patients. All patients presented with developmental delay and mild spastic quadriparesis, but variably impaired language development (12/13), mental retardation (11/13), and epilepsy (5/13) also occurred. BFP was sporadic in 13 of 13 patients, but 2 of 13 had consanguineous parents. CONCLUSIONS: BFP extends the spectrum of the recognized bilateral symmetric regional polymicrogyria syndromes.

https://doi.org/10.1212/wnl.54.4.909
Journal of Child Neurology · 2015 · 20 citations

<i>GPR56</i> -Related Polymicrogyria

AbstractBilateral frontoparietal polymicrogyria is an autosomal recessive cortical malformation associated with abnormalities of neuronal migration, white matter changes, and mild brainstem and cerebellar abnormalities. Affected patients present with delayed milestones, intellectual disability, epilepsy, ataxia, and eye movement abnormalities. The clinicoradiologic profile resembles congenital muscular dystrophy. However, no muscle disease or characteristic eye abnormalities of congenial muscular dystrophy are detected in these children. GPR56 is the only confirmed gene associated with bilateral frontoparietal polymicrogyria. Antenatal diagnosis is possible if the index case is genetically confirmed. Four patients from different Indian families with a distinct clinicoradiologic profile resembling congenital muscular dystrophy with mutations in the GPR56 gene are described.

https://doi.org/10.1177/0883073815583335
Indian Journal of Psychological Medicine · 2018 · 0 citations · open access

Personality Changes in Bilateral Superior Frontal and Parafalcine Frontoparietal Polymicrogyria: A Rare Case Report

AbstractPolymicrogyria is a neurodevelopmental abnormality which results in the formation of excessive, small, abnormal, partially fused gyri with superficially located sulci replacing the normal gyral pattern. Intellectual disability, global developmental delay, epilepsy, language deficits, and motor deficits are commonly reported in patients with polymicrogyria. We present here the case of a young male with a rare pattern of bilateral superior frontal and parafalcine frontoparietal polymicrogyria, who had a mild intellectual disability, intractable seizures along with personality changes. This case report also highlights the relevance of neuroimaging in such cases, possible explanations of personality change in polymicrogyria and relevant management issues with a review of the literature.

https://doi.org/10.4103/ijpsym.ijpsym_159_17

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.