DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Hirschsprung disease — screening already-approved drugs against its 38-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleHirschsprung disease maps to a 38-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 hirschsprung disease 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
cytochrome p450 oxidoreductase (POR) — POR 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 faddrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 3QE2 · 1.75 Å · ligand FLAVIN-ADENINE DINUCLEOTIDE (FAD). Experimental structure, not a prediction.
What the evidence adds up to
Hirschsprung disease is a rare congenital disorder caused by failure of enteric neural crest cells to migrate, proliferate, differentiate or survive during development of the enteric nervous system. The same basic phenotype is associated with mutations in at least seven distinct genes, making it a paradigm for multigene disorders. A wide spectrum of mutations affecting many different genes cause the disease, although the occurrence and severity of Hirschsprung disease from many cases still remain unexplained. The condition poses distinct challenges for clinicians, patients, diagnostic pathologists and basic scientists who must cope with the implications of this genetic complexity.
The 1999 review examined the anatomic pathology, genetics and pathogenesis of Hirschsprung disease and related enteric dysganglionoses, emphasising the importance of animal models to the field. It discussed potential uses and limitations of new data concerning molecular genetics and pathogenesis as they relate to contemporary medical practices. The 2019 review summarised the current knowledge about the molecular genetic basis of Hirschsprung disease, noting that alterations at different molecular levels are required for manifestation of the disease.
The 2025 article described Hirschsprung disease as presenting a complex interplay of genetic, molecular and clinical factors that significantly affect patient outcomes. It stated that emerging therapies and innovative approaches show promise in improving treatment effectiveness and quality of life for affected individuals, but provided no concrete numbers on survival, response rates or sample sizes. No drug was mentioned in any of the three abstracts.
What is still missing: the abstracts contain no clinical trial data, no tested pharmacological interventions, no patient stratification strategies, and no funding commitments for translational research. The genetic complexity remains largely unexplained for many cases, and no therapy has been shown to alter the underlying developmental defect.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Hirschsprung Disease and Other Enteric Dysganglionoses
AbstractHirschsprung disease has become a paradigm for multigene disorders because the same basic phenotype is associated with mutations in at least seven distinct genes. As such, the condition poses distinct challenges for clinicians, patients, diagnostic pathologists, and basic scientists, who must cope with the implications of this genetic complexity to comprehend the pathogenesis of the disorder and effectively manage patients. This review focuses on the anatomic pathology, genetics, and pathogenesis of Hirschsprung disease and related conditions. The nature and functions of "Hirschsprung disease genes" are examined in detail and emphasis is placed on the importance of animal models to this field. Where possible, potential uses and limitations of new data concerning molecular genetics and pathogenesis are discussed as they relate to contemporary medical practices.
Clinical Genetics · 2019 · 41 citations · open access
What is new about the genetic background of Hirschsprung disease?
AbstractHirschsprung disease (HSCR) is a rare congenital disorder caused by an incorrect enteric nervous system development due to a failure in migration, proliferation, differentiation and/or survival of enteric neural crest cells. HSCR is a complex genetic disease, where alterations at different molecular levels are required for the manifestation of the disease. In addition, a wide spectrum of mutations affecting many different genes cause HSCR, although the occurrence and severity of HSCR from many cases still remain unexplained. This review summarizes the current knowledge about molecular genetic basis of HSCR.
Revista sanitaria de investigación. · 2025 · 0 citations
UN ANÁLISIS EN PROFUNDIDAD DE LA ENFERMEDAD DE HIRSCHSPRUNG. COMPRENSIÓN DE LA FISIOPATOLOGÍA, ENFOQUES DE DIAGNÓSTICO Y TRATAMIENTO.
AbstractHirschsprung disease (HD), a congenital disorder characterized by the absence of ganglion cells in the intestines, presents a complex interplay of genetic, molecular, and clinical factors that significantly affect patient outcomes. As research continues, emerging therapies and innovative approaches show promise in improving treatment effectiveness and quality of life for affected individuals. This article seeks to provide an in-depth analysis of Hirschsprung disease, exploring its intricate pathophysiology, diagnostic methodologies and evolving treatment strategies, thereby contributing to a comprehensive understanding of this complex condition and its implications for clinical practice.
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.
