DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for VACTERL/vater association — screening already-approved drugs against its 10-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleVACTERL/vater association maps to a 10-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 vacterl/vater association 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
notch receptor 2 (NOTCH2) — NOTCH2 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 bgcdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 5MWB · 1.86 Å · ligand beta-D-glucopyranose (BGC). Experimental structure, not a prediction.
What the evidence adds up to
The VACTERL association is defined by the presence of at least three of the following congenital malformations: vertebral anomalies, anal atresia, cardiac defects, tracheo-oesophageal fistula, renal anomalies, and limb abnormalities. The incidence is approximately 1.6 cases per 10,000 live births. Vertebral anomalies are found in 70% of patients, anal atresia with or without fistula in 80%, cardiac defect in 50% (ventricular septal defect being most common), tracheo-oesophageal fistula in 70%, renal anomalies in 53%, and limb anomalies in 65% (radial anomalies in 65% and lower extremity defects in 23%). The constituent anomalies are associated in a non-random manner. The exact cause is unknown; most cases occur randomly, and in rare cases it has occurred in more than one family member. A 1991 report notes similarities to animal models of lead teratogenicity and describes a case with high prenatal lead exposure.
A 2012 survey of 121 clinical geneticists found wide variability in how the disorder is defined and what genetic testing strategy is used. The authors present an algorithm for genetic testing in patients with this association. A 2019 case report states that intelligence is usually normal. The diagnosis of VACTERL-H syndrome (which includes hydrocephalus) is based on complete physical examination and a few specialised tests. Treatment is directed at the specific symptoms, which vary greatly. Management centres on surgical correction of specific congenital anomalies (typically anal atresia, certain cardiac malformations, and/or tracheo-oesophageal fistula) in the immediate postnatal period, followed by long-term medical management of sequelae. The 2019 report states that if optimal surgical correction is achievable, the prognosis can be relatively positive, and that early diagnosis and intervention are needed to prevent morbidity and mortality. Additional case reports from 2018 and 2023 describe neonates with VACTERL features and a child with VACTERL-H association and a solitary kidney, respectively, both emphasising the need for multidisciplinary management and staged surgical procedures.
What is still missing is a clear genetic or environmental cause for the majority of cases, a standardised definition and testing protocol among clinicians, and any targeted medical therapy beyond surgical correction of individual malformations. No drug treatment is mentioned in any of these abstracts. The evidence consists entirely of case reports and a single survey of clinical practice; there are no controlled trials, no prospective cohorts, and no data on long-term outcomes beyond the statement that prognosis can be relatively positive if surgery is successful.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
American Journal of Medical Genetics Part A · 2012 · 106 citations
Clinical geneticists' views of VACTERL/VATER association
AbstractVACTERL association (sometimes termed "VATER association" depending on which component features are included) is typically defined by the presence of at least three of the following congenital malformations, which tend to statistically co-occur in affected individuals: Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, and Limb abnormalities. Although the clinical criteria for VACTERL association may appear to be straightforward, there is wide variability in the way clinical geneticists define the disorder and the genetic testing strategy they use when confronted with an affected patient. In order to describe this variability and determine the most commonly used definitions and testing modalities, we present the results of survey responses by 121 clinical geneticists. We discuss the results of the survey responses, provide a literature review and commentary from a group of physicians who are currently involved in clinical and laboratory-based research on VACTERL association, and offer an algorithm for genetic testing in patients with this association.
VACTERL Association With High Prenatal Lead Exposure: Similarities to Animal Models of Lead Teratogenicity
AbstractThe VACTERL association is one of the more common patterns of multiple malformations in children, with an incidence of approximately 1.6 cases per 10 000 live births.1 The pattern of defects consists of vertebral anomalies (found in 70% of patients), anal atresia with or without fistula (80%), cardiac defect (50%) with ventricular septal defect being most common, tracheoesophageal fistula (70%), renal anomalies (53%), and limb anomalies (65% with radial anomalies and 23% with lower extremity defects).2 The definition of the VACTERL association as a distinct entity is based on the finding that its constituent anomalies are associated in a nonrandom manner.1,3,4
International Journal of Medical and Biomedical Studies · 2019 · 1 citations · open access
VACTERL-H SYNDROME – A CASE REPORT
AbstractThe exact cause of VACTERL association is unknown; most cases occur randomly, for no apparent reason. In rare cases, VACTERL association has occurred in more than one family member. VACTERL association is an association of birth defects that affects multiple parts of the body. It includes vertebral or vascular anomalies, anal atresia, cardiac defects, tracheoesophageal – fistula/esophageal atresia, renal defects, and limbs defects. Other features may include (less frequently) growth deficiencies and failure to thrive; facial asymmetry (hemifacial microsomia); external ear malformations; intestinal malrotation; and genital anomalies. Intelligence is usually normal. The diagnosis of VACTERL-H Syndrome is majorly based upon the complete physical examination and a few specialized tests to ascertain the features of the syndrome. The treatment of VACTERL-H is directed towards the specific symptoms that are apparent in each individual, which often varies greatly. The management of patients with VACTERL/VATER association typically centers around surgical correction of the specific congenital anomalies (typically anal atresia, certain types of cardiac malformations, and/or tracheo-esophageal fistula) in the immediate postnatal period, followed by long-term medical management of sequelae of the congenital malformations. If optimal surgical correction is achievable, the prognosis can be relatively positive. Hence early diagnosis and early interventions are needed to prevent morbidity and mortality. Key words: VACTERL-H syndrome, congenital malformations, clinical examinations
Journal of Nepal Paediatric Society · 2018 · 0 citations · open access
Eyelid Coloboma in a Newborn with VACTERL Association
AbstractVACTERL is used to denote vertebral abnormalities (V), anal atresia (A), cardiac defects (C), tracheo-esophageal fistula (TE), renal or radial abnormalities (R), and limb abnormalities (L). This is a case report of a neonate delivered to Manipal Teaching Hospital, Pokhara with features suggestive of VACTERL association.
International Journal of Science and Research (IJSR) · 2023 · 0 citations · open access
Solitary Kidney with VACTERL-H Association in Children - A Rare Case Report
AbstractVACTERL-H association is an extremely rare disorder. It includes vertebral anomaly, anal atresia, cardiac defects, tracheoesophageal fistula, renal defects, limbs defects and hydrocephalus. It is diagnosed mainly by clinical examination and a few specialized tests. Multidisciplinary management is required for these cases with staged surgical procedures.
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.
