DeCure for Chromosome 17q11.2 deletion syndrome, 1.4Mb
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for chromosome 17q11.2 deletion syndrome, 1.4Mb — 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 17q11.2 deletion syndrome, 1.4Mb 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 17q11.2 deletion syndrome, 1.4mb 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
neurofibromin 1 (NF1) — NF1 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 1sdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 7PGU · 3.3 Å · ligand (1S)-2-{[(2-AMINOETHOXY)(HYDROXY)PHOSPHORYL]OXY}-1-[(PALMITOYLOXY)METHYL]ETHYL STEARATE (PEV). Experimental structure, not a prediction.
What the evidence adds up to
The first abstract, from 2000, is about chromosome 22q11 deletion syndrome, not 17q11.2 or 17q12, and provides no data on the disease in question. The 2018 paper on 17q12 deletion syndrome reports that 361 postnatal cases were assessed in a literature review. It states that the syndrome usually comprises MODY5, structural or functional kidney abnormalities, and neurodevelopmental or neuropsychiatric disorders. A complete deletion of HNF1B is found in about 50% of patients with MODY5. The paper notes that HNF1B deletions are virtually always part of a 17q12 deletion syndrome and that common genetic analyses for MODY5 cannot detect the deletion of a 1.4 Mb chromosomal region.
The 2024 case report describes a 35-year-old Japanese patient with a de novo 1.46 Mb deletion at 17q12. The patient exhibited MODY type 5, structural or functional abnormalities of the kidney, liver, and pancreas, facial dysmorphic features, electrolyte disorders, keratoconus, and acquired perforating dermatosis. The 2017 abstract concerns an 18q deletion syndrome, not 17q12, and provides no relevant data. The 2025 abstract discusses 22q11.2 deletion syndrome and is not applicable.
No drug, treatment, or intervention is mentioned in any of the abstracts for chromosome 17q11.2 deletion syndrome or 17q12 deletion syndrome. There are no data on survival, response rates, or sample sizes for any therapeutic trial. What is missing is any clinical trial testing a drug for this condition, any proposed molecular target for intervention, and any patient stratification strategy beyond the genetic diagnosis itself.
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 · 2000 · 189 citations
Chromosome 22q11 deletion syndrome: Update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications
The Journal of Clinical Endocrinology & Metabolism · 2018 · 67 citations · open access
17q12 Deletion Syndrome as a Rare Cause for Diabetes Mellitus Type MODY5
AbstractContext: Maturity-onset diabetes of the young type 5 (MODY5) is caused by mutations of the hepatocyte nuclear factor 1 homeobox β gene (HNF1B). Although clinical characteristics and therapeutic management of MODY5 are increasingly better defined, adequate consideration of the frequent association of MODY5 with 17q12 deletion syndrome is often missing. Evidence Acquisition: We report two cases of patients with 17q12 deletion syndrome who presented to our clinic. Furthermore, we reviewed the existing literature to improve systematic diagnostic and therapeutic approaches. A PubMed search using the terms 17q12 deletion syndrome, diabetes mellitus type MODY5, and/or HNF1B was performed. Evidence Synthesis: Three hundred sixty-one cases of postnatal 17q12 deletion syndrome were assessed, and details on clinical manifestations, diagnostic approaches, and therapeutic management were reviewed and compared with the two cases at our clinic. Furthermore, data on pathogenic mechanisms and their clinical implications were evaluated. Conclusion: The 17q12 deletion syndrome usually comprises MODY5, structural or functional abnormalities of the kidneys, and neurodevelopmental or neuropsychiatric disorders. A complete deletion of HNF1B can be found in about 50% of patients with MODY5. A wide variety of additional clinical features, including genital and brain malformations, has been reported. Because HNF1B deletions are virtually always part of a 17q12 deletion syndrome and common genetic analyses for evaluation of MODY5 are unable to detect the deletion of a 1.4-Mb chromosomal region, initial attention to the syndromal features at the stage of diagnosis is of considerable importance for establishing correct diagnosis, subsequent therapy, and interdisciplinary patient care.
Internal Medicine · 2024 · 4 citations · open access
Japanese 17q12 Deletion Syndrome with Complex Clinical Manifestations
Abstract17q12 deletion syndrome is a rare chromosomal anomaly with variable phenotypes, caused by the heterozygous deletion of chromosome 17q12. We herein report a 35-year-old Japanese patient with chromosomal 17q12 deletion syndrome identified by de novo deletion of the 1.46 Mb segment at the 17q12 band by genetic analyses. He exhibited a wide range of phenotypes, such as maturity-onset diabetes of the young (MODY) type 5, structural or functional abnormalities of the kidney, liver, and pancreas; facial dysmorphic features, electrolyte disorders; keratoconus, and acquired perforating dermatosis. This case report provides valuable resources concerning the clinical spectrum of rare 17q12 deletion syndrome.
[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.
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.
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.
