DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Warburg micro syndrome — screening already-approved drugs against its 3-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleWarburg micro syndrome maps to a 3-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 warburg micro 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.
Molecular view
RAB3 GTPase activating protein catalytic subunit 1 (RAB3GAP1) — RAB3GAP1 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 8VYB · 3.37 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
Two novel homozygous RAB3GAP1 mutations (c.22G>T, p.Glu8* and c.1353delA, p.Pro452Hisfs*5) were identified in two consanguineous families by whole-exome sequencing in a 2015 report. A 2020 case study described a child with compound heterozygous variants c.2607-1G>C and c.899+2dupT of the same gene, who presented with developmental delay, dysplasia of the palatine arch, prominent high palatal arch, and tooth dysplasia. That study provided a basis for genetic counselling and prenatal diagnosis for the family but did not test any treatment.
A 2020 review of comparative proximity biotinylation produced an inventory of RAB18-interactions and implicated RAB18 in cholesterol mobilisation. The authors stated the work aimed to identify new proteins involved in the pathophysiology of Warburg micro syndrome and to better understand the molecular and cellular effects of disease-causing mutations. Reviewers expressed concerns about the validation and interpretation of the presented protein interaction data. No drug, compound, or intervention was tested in any of these studies.
No clinical trial data, survival figures, or response rates exist for any drug in Warburg micro syndrome. What is missing is any funded preclinical drug screen, any animal model testing of a candidate molecule, and any patient stratification beyond the handful of described genotypes.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Human Genome Variation · 2015 · 14 citations · open access
Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome
AbstractWarburg micro syndrome is an autosomal recessive disease where patients present with optic, neurologic and genital symptoms. Until now, four disease genes for Warburg micro syndrome, RAB3GAP1, RAB3GAP2, RAB18 and TBC1D20, have been identified. Here, we report two novel homozygous RAB3GAP1 mutations (c.22G>T, p.Glu8* and c.1353delA, p.Pro452Hisfs*5) in two consanguineous families by whole-exome sequencing.
[Analysis of a case of Warburg micro syndrome type 1 due to variant of RAB3GAP1 gene].
AbstractOBJECTIVE: To explore the clinical and genetic characteristics of a child featuring developmental delay. METHODS: The child was subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing. RESULTS: Whole genome sequencing revealed that the child has carried compound heterozygous variants c.2607-1G>C and c.899 + 2dupT of the RAB3GAP1 gene, which were respectively derived from her mother and father. CONCLUSION: A rare case of Warburg micro syndrome type 1 was diagnosed. The phenotype of the child was consistent with the literature, in addition with dysplasia of palatine arch, prominent high palatal arch and tooth dysplasia. Above finding has provided a basis for genetic counseling and prenatal diagnosis for the family.
Zenodo (CERN European Organization for Nuclear Research) · 2020 · 0 citations · open access
Review of Comparative proximity biotinylation produces an inventory of RAB18-interactions and implicates RAB18 in cholesterol mobilization
AbstractAs a possible path to better understand and develop treatments for Warburg Micro Syndrome (WMS), the authors have investigated the networks of protein-protein interactions involving genes mutated in this rare genetic disease. The goals of the work are to identify new proteins involved in the pathophysiology of the disease and to better understand the molecular and cellular effects of disease-causing mutations. The data will likely be of interest to researchers studying WMS and RAB18, the protein focused on here, but reviewers expressed some concerns about the validation and interpretation of the presented protein interaction data.
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.
