DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for chromosome 1q21.1 deletion 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 moduleChromosome 1q21.1 deletion 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 chromosome 1q21.1 deletion 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
The abstracts provided do not describe any drug treatment or intervention for chromosome 1q21.1 deletion syndrome. The first abstract discusses 22q11 deletion syndrome, a different condition involving a deletion on chromosome 22, not chromosome 1. It notes that haploinsufficiency of genes at 22q11.2, particularly TBX1, affects early morphogenesis of the pharyngeal arches, heart, skeleton, and brain, and that the syndrome has a very wide phenotypic spectrum. No drug is mentioned.
A 2007 study of terminal 1q deletion syndrome mapped a 2.0-megabase critical region for microcephaly at the 1q43-1q44 boundary in seven patients, containing no more than 11 genes. This is a different deletion from the 1q21.1 region. A 1984 case report describes a 3-month-old female with an interstitial deletion of chromosome 1 (q23-25) and features including failure to thrive, psychomotor retardation, cleft lip and palate, and severe congenital heart disease. Again, this is not the 1q21.1 deletion, and no treatment is discussed.
Two remaining abstracts concern deletions on chromosome 21 (1990) and chromosome 22 (2025). Neither is relevant to chromosome 1q21.1 deletion syndrome. No drug, no trial, no survival or response data for 1q21.1 deletion syndrome appear in any of these abstracts. What is missing is any clinical study, any proposed therapy, any patient stratification, or any funding directed specifically at this syndrome.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
The Application of Clinical Genetics · 2015 · 86 citations · open access
22q11 deletion syndrome: current perspective
AbstractChromosome 22q11 is characterized by the presence of chromosome-specific low-copy repeats or segmental duplications. This region of the chromosome is very unstable and susceptible to mutations. The misalignment of low-copy repeats during nonallelic homologous recombination leads to the deletion of the 22q11.2 region, which results in 22q11 deletion syndrome (22q11DS). The 22q11.2 deletion is associated with a wide variety of phenotypes. The term 22q11DS is an umbrella term that is used to encompass all 22q11.2 deletion-associated phenotypes. The haploinsufficiency of genes located at 22q11.2 affects the early morphogenesis of the pharyngeal arches, heart, skeleton, and brain. TBX1 is the most important gene for 22q11DS. This syndrome can ultimately affect many organs or systems; therefore, it has a very wide phenotypic spectrum. An increasing amount of information is available related to the pathogenesis, clinical phenotypes, and management of this syndrome in recent years. This review summarizes the current clinical and genetic status related to 22q11DS.
American Journal of Medical Genetics Part A · 2007 · 69 citations
A 2‐Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome
AbstractPatients with distal deletions of chromosome 1q have a recognizable syndrome that includes microcephaly, hypoplasia or agenesis of the corpus callosum, and psychomotor retardation. Although these symptoms have been attributed to deletions of 1q42-1q44, the minimal chromosomal region involved has not been identified. Using microsatellite and single nucleotide polymorphism (SNP) markers, we have mapped the deleted regions in seven patients with terminal deletions of chromosome 1q to define a 2.0-Mb microcephaly critical region including the 1q43-1q44 boundary and no more than 11 genes.
A familial interstitial deletion of the long arm of chromosome 21
AbstractA mother and daughter with an interstitial deletion of the chromosome segment 21q11 to 21q21.3 have similar minor dysmorphism and mild mental retardation. These two patients are compared to others in the literature with deletion of the same region of chromosome 21. Molecular analysis of DNA from our patients localizes the DNA segments D21S1, D21S11, D21S8, and D21S22 within the deleted region.
Interstitial deletion of chromosome 1 (q23–25). Report of a case
AbstractWe describe a 3-month-old female with a de novo interstitial deletion of the long arm of chromosome 1 (1q23-25). Clinical features are failure to thrive, psychomotor retardation, cleft lip and palate, short metacarpals, metatarsals and fingers and a severe congenital heart disease. The four previously reported patients with the same deletion share with ours the distinctive pattern of anomalies of the face and limbs; therefore, it seems now possible to delineate a proximal 1 q deletion syndrome.
Journal of Medical Genetics · 2025 · 0 citations · open access
Six at Sixty. ‘Have you tested for 22q?’
Abstractpublished our paper on the spectrum of clinical features associated with interstitial chromosome 22q11 deletions. This copy number variation is associated with an extraordinary range of clinical features, which led initially to its association with several diagnostic labels. Since 1997 work on clinical and basic science aspects of the syndrome and the genes reduced to hemizygosity have provided a wealth of information pertaining to both best practice care and underlying biology. It is recognised that 22q11.2 deletion syndrome is an excellent model for probing mechanisms underlying psychiatric disease, cardiovascular development and much more.
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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