Rare & Orphan Lab · DeCure for X

DeCure for Branchiootic syndrome

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for branchiootic syndrome — 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
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Rare & OrphanDOID:0060232$DeCureRare

The disease map

Disease moduleBranchiootic syndrome 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 branchiootic 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

SIX homeobox 1 (SIX1)SIX1 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 4EGC · 1.994 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.

MAMC Journal of Medical Sciences · 2018 · 0 citations · open access

Branchiootic Syndrome − Rare Case Reports of Patients With Complete Bilateral Branchial Fistulae

AbstractBranchial arch anomalies are one of the most common congenital anomalies and are usually unilateral in nature. The bilateral occurrence of more than one anomaly is not only rare, but its presence along with hearing loss results in branchiootic syndrome, which has important clinical and genetic implications. Branchiootic syndrome is a part of the spectrum of branchiootorenal syndrome, which is a rare autosomal dominant condition with incomplete penetrance characterized by the malformations of the external, middle, and inner ear, hearing loss, branchial fistulae, and renal abnormalities. We shall be discussing two such rare cases in this article.

https://doi.org/10.4103/mamcjms.mamcjms_78_17
Int J Otolaryngol Head Neck Surg · 2017 · 0 citations

Progress in the research of branchiootorenal spectrum disorders

AbstractBranchiootorenal Spectrum Disorders (BOSD), comprising branchiootorenal (BOR) syndrome and branchiootic syndrome (BOS), is a rare autosomal dominant hereditary disease characterized by hearing loss, preauricular pits, second branchial arch anomalies, with or without renal anomalies. Since extreme variability can be observed in the presence, severity, and type of branchial arch, otologic, audiologic, and renal abnormality from right side to left side in an affected individual and also among individuals in the same family. BOR syndrome and BOS can be seen in the same family. And it’s difficult to make a diagnosis. In this review, we simply summarize the latest progress in the pathogenesis, clinical manifestations, genotype and phenotypic association, diagnostic criteria, treatment methods, prevention and genetic counseling of Branchiootorenal Spectrum Disorders, hoping to provide a reference for the diagnosis and treatment of BOR/BOS. Key words: Hearing Loss; Heredity; Branchio-Oto-Renal Syndrome

https://doi.org/10.3760/cma.j.issn.1673-4106.2017.06.005

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.