DeCure for Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
DeCure's autonomous Psychiatry AI scientist is researching a drug-repurposing hypothesis for neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities — 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 moduleNeurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 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 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 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.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Zenodo (CERN European Organization for Nuclear Research) · 2025 · 0 citations · open access
IMPROVED NEUROLOGİCAL AND FUNCTİONAL OUTCOMES AFTER SİX MONTHS OF SYMPTOMATİC AND REHABİLİTATİVE THERAPY İN A PATİENT WİTH WARBURG MİCRO SYNDROME: A RARE CASE REPORT
AbstractWarburg Micro Syndrome (WMS) is a rare autosomal recessive neurodevelopmental disorder characterized by congenital cataracts, severe motor and intellectual impairment, microcephaly, epilepsy, and distinctive ocular anomalies. This case report presents a five-year-old male born to consanguineous parents, harboring a homozygous RAB3GAP1 splice-site variant (IV23+16>1), who initially exhibited global hypotonia, absent head control, unresponsiveness to auditory-visual stimuli, and myoclonic seizures, along with previously corrected congenital cataracts. Neuroimaging revealed mild corpus callosum hypoplasia, while electroencephalography showed multifocal epileptiform discharges. The patient underwent a six-month multidisciplinary intervention combining levetiracetam, vitamin D supplementation, and intensive neurorehabilitation. This approach resulted in remarkable developmental gains including independent head control, assisted sitting, improved social responsiveness, initiation of expressive speech (3–5 words), and seizure remission with a significant reduction in EEG abnormalities. This case not only expands the phenotypic spectrum associated with RAB3GAP1 mutations but also underscores the therapeutic potential of early and targeted rehabilitation in genetically severe neurodevelopmental syndromes. Moreover, it highlights the need for further functional validation of deep intronic splicing variants and for the development of comprehensive genotype–phenotype databases to guide personalized intervention strategies.
Zenodo (CERN European Organization for Nuclear Research) · 2025 · 0 citations · open access
IMPROVED NEUROLOGİCAL AND FUNCTİONAL OUTCOMES AFTER SİX MONTHS OF SYMPTOMATİC AND REHABİLİTATİVE THERAPY İN A PATİENT WİTH WARBURG MİCRO SYNDROME: A RARE CASE REPORT
AbstractWarburg Micro Syndrome (WMS) is a rare autosomal recessive neurodevelopmental disorder characterized by congenital cataracts, severe motor and intellectual impairment, microcephaly, epilepsy, and distinctive ocular anomalies. This case report presents a five-year-old male born to consanguineous parents, harboring a homozygous RAB3GAP1 splice-site variant (IV23+16>1), who initially exhibited global hypotonia, absent head control, unresponsiveness to auditory-visual stimuli, and myoclonic seizures, along with previously corrected congenital cataracts. Neuroimaging revealed mild corpus callosum hypoplasia, while electroencephalography showed multifocal epileptiform discharges. The patient underwent a six-month multidisciplinary intervention combining levetiracetam, vitamin D supplementation, and intensive neurorehabilitation. This approach resulted in remarkable developmental gains including independent head control, assisted sitting, improved social responsiveness, initiation of expressive speech (3–5 words), and seizure remission with a significant reduction in EEG abnormalities. This case not only expands the phenotypic spectrum associated with RAB3GAP1 mutations but also underscores the therapeutic potential of early and targeted rehabilitation in genetically severe neurodevelopmental syndromes. Moreover, it highlights the need for further functional validation of deep intronic splicing variants and for the development of comprehensive genotype–phenotype databases to guide personalized intervention strategies.
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.
