Rare & Orphan Lab · DeCure for X

DeCure for Mowat-Wilson syndrome

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Mowat-Wilson 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 module1 genesLead labRare & Orphan
All cures
Rare & OrphanDOID:0060485$DeCureRare

The disease map

Disease moduleMowat-Wilson 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 mowat-wilson 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.

Evidence

Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.

Egyptian Journal of Medical Human Genetics · 2024 · 1 citations · open access

Mowat-Wilson syndrome: unraveling the complexities of diagnosis, treatment, and symptom management

AbstractAbstract Mowat-Wilson syndrome can be mentioned as one of the most severe and, at the same time, rare genetic abnormalities. The inheritance pattern of this disorder is an autosomal dominant pattern. In this disease, the ZEB2 gene becomes abnormal. The severity of the disease and associated signs and symptoms can vary widely but may include distinct facial features, developmental delay, intellectual disability, and Hirschsprung. MWS treatment may vary based on the specific symptoms that appear in each individual. This review will examine the gene involved in this disease, phenotype, clinical manifestations, ways of diagnosis, and treatment of this disease.

https://doi.org/10.1186/s43042-024-00517-2
Pediatria i Medycyna Rodzinna · 2023 · 0 citations · open access

Ocular abnormalities in Mowat–Wilson syndrome – a case series of four patients

AbstractMowat–Wilson syndrome is a rare genetic disorder. Patients present with characteristic facial dysmorphia, intellectual disability, and disorders of the nervous, circulatory, gastrointestinal, and genitourinary systems. However, in the available literature there are few descriptions of ocular abnormalities, which are a significant problem among children diagnosed with Mowat–Wilson syndrome. This article reports four clinical cases, focusing mainly on the ocular abnormalities that occur during the course of the disease. Even though ophthalmic manifestations, based on the current data, affect less than 10% of patients, if Mowat–Wilson syndrome is suspected or diagnosed, the child should be referred to a medical centre with the highest level of referral for full diagnostics and implementation of specialised treatment.

https://doi.org/10.15557/pimr.2023.0075

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.