DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Greig cephalopolysyndactyly 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 moduleGreig cephalopolysyndactyly 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 greig cephalopolysyndactyly 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
Greig cephalopolysyndactyly syndrome is a rare genetic disorder with about 200 cases reported in the literature as of 2021. It is characterised by macrocephaly, hypertelorism, and polysyndactyly. Most cases result from heterozygous loss-of-function mutations in the GLI3 gene on chromosome 7p13–p14.1. A 1983 report described a familial reciprocal translocation t(3;7)(p21.1;p13) segregating through four generations that was invariably associated with the syndrome; high-resolution chromosome analysis showed no imbalance of the affected chromosomes. One girl with the syndrome in that family died of medulloblastoma.
A small proportion of cases arise from large deletions on chromosome 7p14 encompassing GLI3. In approximately 20% of cases a deletion of variable size is detected. When the deletion is large and affects other genes besides GLI3, a more severe phenotype is accepted as Greig cephalopolysyndactyly contiguous gene syndrome. As of 2021, only six patients had been reported with a deletion larger than 1 Mb involving GLI3 for which exact genomic coordinates and gene content were given. One 2021 report described a patient with an 18 Mb deletion on chromosome 7p14.2-p11.2. A 2011 report described a newborn female with polysyndactyly, hypertelorism, and microcephaly who had a 1.5 Mb 7p14.1 microdeletion of paternal origin diagnosed by array-CGH.
A 1993 report described a boy with Greig cephalopolysyndactyly who also presented sinus node disease (sick sinus syndrome) and was followed from birth to 10.5 years. The significance of the concurrence of the syndrome, mapped at 7p13, and sinus node disease was discussed but no causal mechanism was established. No drug treatment for the syndrome itself appears in any of these abstracts. What is missing is any clinical trial, any pharmacological intervention, any patient stratification beyond deletion size, and any funding for therapy development — the literature remains entirely descriptive and genetic.
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 · 1983 · 68 citations
A familial reciprocal translocation t(3;7) (p21.1;p13) associated with the Greig polysyndactyly‐craniofacial anomalies syndrome
AbstractA translocation t(3;7) (p21.l;p13) segregating through four generations was found to be invariably associated with the Greig cephalopolysyndactyly syndrome (GS). High resolution chromosome analyses using G and R banding did not uncover any imbalance of the affected chromosomes, nor were the late replicating patterns changed. One girl with the GS died of medulloblastoma.
American Journal of Medical Genetics · 1993 · 3 citations
Apparent Greig cephalopolysyndactyly and sinus node disease
AbstractWe present the clinical findings and follow-up data from birth to 10.5 years in a boy with Greig cephalopolysyndactyly who, in addition, presents sinus node disease ("sick sinus syndrome"). The significance of the concurrence of Greig cephalopolysyndactyly syndrome, an autosomal dominant condition mapped at 7p13, and sinus node disease is discussed.
Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review
AbstractGreig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder (about 200 cases reported), characterized by macrocephaly, hypertelorism, and polysyndactyly. Most of the reported GCPS cases are the results of heterozygous loss of function mutations affecting the GLI3 gene (OMIM# 175700), while a small proportion of cases arise from large deletions on chromosome 7p14 encompassing the GLI3 gene. To our knowledge, only 6 patients have been reported to have a deletion with an exact size (given by genomic coordinates) and a gene content larger than 1 Mb involving the GLI3 gene. This report presents a patient with Greig cephalopolysyndactyly contiguous gene syndrome (GCP-CGS) diagnosed with a large, 18 Mb deletion on chromosome 7p14.2-p11.2. Similar cases are reviewed in the literature for a more accurate comparison between genotype and phenotype.
Anales de Pediatría · 2011 · 1 citations · open access
Microdeleción 7p14.1 y cefalopolisindactilia de Greig
AbstractLa cefalopolisindactilia de Greig es un síndrome autosómico dominante de baja prevalencia causado por mutaciones en el gen GLI3, localizado en 7p14.1 y caracterizado por la tríada clínica de polisindactilia, macrocefalia e hipertelorismo. En aproximadamente el 20% de los casos se detecta una deleción de tamaño variable. Si la deleción es grande y afecta a otros genes además de GLI3, puede aparecer un fenotipo más severo, aceptándose la denominación de cefalopolisindactilia de Greig-síndrome de genes contiguos para estos casos. Describimos el caso de una niña recién nacida con polisindactilia, hipertelorismo y microcefalia, que presenta una microdeleción en 7p14.1 de 1,5 Mb de origen paterno diagnosticada mediante array-CGH. Greig cephalopolysyndactyly is a rare autosomic dominant syndrome caused by mutations in GLI3 gene located on cytoband 7p14.1 and characterized by the clinical triad of polysyndactyly, macrocephaly and hypertelorism. In approximately 20% of the cases a deletion of variable size is detected. If deletion is large and affects other genes as well as GLI3, a more severe phenotype is expected. Thus, Greig cephalopolysyndactyly contiguous gene syndrome is a multiple malformation syndrome caused by haploinsufficiency of GLI3 and adjacent genes. We describe the case of a newborn female with polysyndactyly, hypertelorism and microcephaly and a 1.5 Mb 7p14.1 microdeletion of paternal origin diagnosed by array-CGH.
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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