DeCure for Chromosome 17q23.1-q23.2 deletion syndrome
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for chromosome 17q23.1-q23.2 deletion 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 moduleChromosome 17q23.1-q23.2 deletion 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 chromosome 17q23.1-q23.2 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.
Molecular view
solute carrier family 2 member 1 (SLC2A1) — SLC2A1 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 bngdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 6THA · 2.4 Å · ligand nonyl beta-D-glucopyranoside (BNG). Experimental structure, not a prediction.
What the evidence adds up to
A 2013 case report describes a six-year-old boy with a de novo 17q22q23 deletion detected by oligonucleotide array comparative genomic hybridization. His epilepsy phenotype included myoclonic atonic and absence seizures. The authors note that interstitial deletions of the long arm of chromosome 17 are rare, with only 17 cases involving the q22-q23.3 band reported at that time, and that epilepsy had been documented in only two of those 17 cases. No common phenotype had been delineated.
A 2014 report describes a child with an interstitial 16q deletion and an interstitial duplication of 17p, both de novo. The authors state that only seven cases of the 16q deletion had been described previously, and none of those presented with additional chromosomal abnormalities. The proband’s complex phenotype included features found in patients with dup17p11.2 syndrome and deletions in 16q12.
A 2017 study of a child with a 46,XY,del(18)(q23) karyotype used single nucleotide polymorphism array to map a 9.855 Mb deletion at 18q22.2q23. The deletion overlapped with the critical region for distal 18q deletion syndrome and was confirmed as de novo by parental testing. The authors attribute the child’s phenotype to this deletion.
A 2025 paper on interstitial chromosome 22q11 deletions describes the associated copy number variation as linked to a wide range of clinical features and several diagnostic labels. The authors note that since 1997, work on the syndrome and the genes reduced to hemizygosity has provided information on best practice care and underlying biology, and that 22q11.2 deletion syndrome is considered a model for probing mechanisms of psychiatric disease and cardiovascular development.
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 · 2013 · 32 citations
Myoclonic epilepsy in a child with 17q22–q23.1 deletion
AbstractInterstitial deletions of the long arm of the chromosome 17 are relatively rare. Up to 17 cases involving the q22-q23.3 band have been reported so far. A common phenotype has not yet been delineated and epilepsy has been reported in only 2 out of 17 cases. We describe a clinical phenotype of epilepsy characterized by myoclonic atonic and absence seizures in a 6-year-old boy carrying a de novo 17q22q23 deletion detected by oligonucleotide array comparative genomic hybridization (aCGH).
[Genotype and phenotype analysis of a child with partial 18q deletion syndrome].
AbstractOBJECTIVE: To explore the genotype-phenotype correlation of a child with chromosome 18q deletion syndrome. METHODS: G-banded karyotyping, single nucleotide polymorphism array (SNP array) and fluorescence in situ hybridization (FISH) were performed on the child with abnormal phenotypes. Genotype-phenotype correlation was explored following accurate mapping of the breakpoints on chromosome 18q. SNP array was also performed on the genome DNA derived from peripheral venous blood samples from both parents. RESULTS: Chromosomal analysis revealed that the child has a karyotype of 46, XY, del(18) (q23). SNP array analysis detected a 9.855 Mb deletion (chr18: 68 158 880-78 014 123) at 18q22.2q23. Mapping of the breakpoints suggested that the deletion has overlapped with that of distal chromosome 18q deletion syndrome and encompassed several critical regions for this syndrome. SNP array performed on parental samples suggested that the 18q22.2q23 deletion was de novo in origin. FISH analysis of peripheral blood sample from the child confirmed the presence of 18qter deletion. CONCLUSION: The phenotype of this child may be attributed to the deletion of distal 18q22.2q23, which has encompassed several critical regions for the 18q deletion syndrome.
Clinical Case Reports · 2014 · 1 citations · open access
Two interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA
AbstractKEY CLINICAL MEASSAGE: Patients with rare deletions in 16q12 and a duplication of 17p, both interstitial and de novo. Only seven cases have been described with these deletions and none of them presented other chromosomal abnormalities. The proband showed a complex phenotype with features found in patients with dup17p11.2 syndrome, deletions in 16q12.
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.
[Application of fluorescence in-situ hybridization technique in multiple myeloma].
AbstractOBJECTIVE: To investigate the common chromosome abnormalities of the patients with multiple myeloma in China and the relationships of cytogenetic abnormalities and clinical features. METHODS: In interphase fluorescence in-situ hybridization (FISH) analysis, a panel of probes including D13S319 (13q14.3), RB1(RB1 gene), IgH (14q32), P53(17p13), 1q21(1q21 gene) was used to study the cytogenetic abnormalities of 31 patients with multiple myeloma; and the clinical implications of cytogenetic abnormalities were investigated. RESULT: The frequencies of the partial deletion of chromosome 13, translocation involving the 14q32 region, abnormalities in 1q21 and deletion of 17p13 were 45%, 68%, 50%, and 35% in the study, respectively. The abnormalities of both the partial deletion of chromosome 13 and translocation involving the 14q32 region were found in 35% of the patients. 79% of the patients with del (13q) had 14q32 translocations simultaneously. All the patients with positive detection of probe D13S319 were found to have translocation of 14q32 at the same time. There were correlations between the partial deletion of chromosome 13 and translocation involving the 14q32 region. The overall response rate of induction treatment was 67.7%. No significant difference was found in patients with positive or negative cytogenetic abnormalities of del(13q), 14q32 translocation, del(17p13), and 1q21 abnormalities. CONCLUSION: 13q deletion, IgH rearrangement, chromosome 1 abnormality and 17p13 deletion are the common cytogenetic abnormalities of MM patients in China. There is a significant correlation between the presence of 14q32 translocations and chromosome 13 deletion in MM patients.
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.
