DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for van der Woude 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 moduleVan der Woude 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 van der woude 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.
What the evidence adds up to
Van der Woude syndrome is a rare autosomal dominant condition. In a seven-generation kindred, lip pits were the most common manifestation, occurring in 88% of affected individuals and being the only sign in 64%; clefts of lip and palate occurred in 21%. Penetrance in that study was 96.7%, and careful examination revealed minor manifestations in several people who had considered themselves unaffected. The distribution of manifestations and the risk to offspring differed appreciably from earlier reports. A four-generation Thai family showed varied lip lesions not related to other phenotypes, and additional features possibly specific to that family included sensorineural hearing loss, prominent frontal bone, large frontal/sphenoidal/maxillary sinuses, dental pulp stones, ankyloglossia, and minor limb anomalies. Fluorescence in situ hybridization analysis in that family revealed no visible deletion at the 1q32-41 region. A 2004 case report described an adolescent female with isolated lower lip pits and similarly affected family members.
Linkage studies in a five-generation kindred excluded close linkage for most of 27 informative polymorphic marker loci. Only the Duffy blood group (Fy) gave uniformly positive lod scores, with a maximum of 1.31 at a recombination fraction of 0.0. A 2021 report of two cases stated that the syndrome can be caused by microdeletion of chromosome bands 1q32-q41 and also by mutation of the interferon regulatory factor 6 (IRF-6) gene. No drug treatment is mentioned in any of these abstracts.
What is still missing is any clinical trial testing a drug for van der Woude syndrome, any molecular pathway target for pharmacological intervention, and any patient stratification beyond the known genetic subtypes. No therapy has been proposed or tested in these reports.
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 · 1980 · 98 citations
The van der Woude syndrome in a large kindred: Variability, penetrance, genetic risks
AbstractThe van der Woude syndrome was studied in a seven-generation kindred. Lip pits were the most common manifestation of affected persons. They occurred in 88% of the affected and were the only manifestations in 64%; clefts of lip and palate occurred in 21%. Penetrance was 96.7%. Careful examination showed minor manifestations of the syndrome in several individuals who had considered themselves unaffected. The distribution of manifestations and the risk to off-spring differed appreciably from that reported in the literature. The implications of these findings for genetic counseling are discussed.
American Journal of Medical Genetics · 2002 · 37 citations
Van der Woude syndrome with sensorineural hearing loss, large craniofacial sinuses, dental pulp stones, and minor limb anomalies: Report of a four‐generation Thai family
AbstractA four-generation Thai family affected with Van der Woude syndrome is reported. The disorder appeared to be originally inherited from a person who was half Thai and half Pakistani. The lip lesions found in this family were varied and did not appear to be related to other phenotypes. There were some clinical manifestations possibly specific for the condition in this family. They included sensorineural hearing loss, prominent frontal bone, large frontal/sphenoidal/maxillary sinuses with increased mastoid air cells, long tooth roots, dental pulp stones, ankyloglossia, brachydactyly of hands, brachyphalangy, and hyperphalangy of toes, and single flexion crease of the fifth fingers. Fluorescence in situ hybridization analysis revealed no visible deletion at a 1q32-41 region.
AbstractThe Van der Woude syndrome is a rare autosomal-dominant condition typically comprising cleft lip or cleft palate and distinctive pits of the lower lips. The degree to which individuals carrying the gene are affected varies widely, even within families. The variable manifestations include lip pits alone, absent teeth, and isolated cleft lip and palate of varying degrees of severity. Other associated anomalies have also been described. We report a case of Van der Woud syndrome manifesting with isolated lower lip pits in an adolescent female with similarly affected family members.
Journal of Medical Genetics · 1987 · 15 citations · open access
Linkage studies in a pedigree with Van der Woude syndrome.
AbstractA kindred segregating for Van der Woude syndrome (VWS) through five generations is described. Biochemical and serological phenotypes at 36 polymorphic marker loci have been determined, of which 27 were informative for linkage analysis to the VWS gene (LIPED 3 computer programme). Lod scores are reported and show exclusion of close linkage for most of the marker loci. Only VWS:Duffy (Fy) resulted in uniformly positive lod scores (theta = 0.0, z(theta) = 1.31).
Indian Journal Of Applied Research · 2021 · 0 citations
“VAN DER WOUDE SYNDROME: REPORT OF TWO CASES”
AbstractVan Der Woude syndrome is a rare autosomal dominant condition which is associated with developmental malformations involving lips, palate. This syndrome can be a genetic origin due to Microdeletion of chromosome bands 1q32-q41 and also mutation of Interferon regulatory factor 6 (IRF-6) can be a pathogenic cause. We report two interesting cases of Van Der Woude syndrome with lip pits and orofacial features.
Journal of Cleft Lip Palate and Craniofacial Anomalies · 2016 · 0 citations · open access
Orthodontic management of displaced premaxilla in Van der Woude syndrome
AbstractCleft lip and palate is the most common congenital disorder affecting facial region. Van der Woude syndrome is a rare autosomal dominant disorder characterized by varying degree of cleft lip and/or palate, distinctive pits on the lower lip and hypodontia. A case of Van der Woude syndrome treated successfully with fixed orthodontic treatment is presented. The main feature of treatment planning and execution included moving the premaxilla to midline with gentle orthodontic force.
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.
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