DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for chromosome 6q24-q25 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 6q24-q25 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 6q24-q25 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
A 2016 study of a girl with moderate mental retardation and speech and language disorders found a partial trisomy of 6q24.3-q27 and a 2.5 Mb microdeletion at 1q44. The 1q44 deletion was judged to have no recognisable phenotype, and the abnormal features were attributed to the 6q24.3-q27 triplication. The sample is a single patient. A 2017 report on a fetus identified a de novo 2.04 Mb deletion at 6q27 by array comparative genomic hybridisation, with no karyotypic abnormality visible by G-banding. The deletion involved candidate genes for structural brain abnormalities, and the breakpoint region contained a 2410 bp palindrome-rich sequence that may have facilitated the deletion. Again, this is a single fetus, and no postnatal outcomes are given.
A 2023 paper describes a family in which a mother carried an intrachromosomal insertion of 18q21.2-q22.3. One child had a 19.77 Mb deletion at that region and presented with global developmental delay; a fetus had a 19.73 Mb duplication of the same region. Both the duplication and the deletion were classified as pathogenic by ACMG guidelines. This is not a study of 6q deletion syndrome, but it illustrates that large copy-number changes at other loci can produce severe developmental phenotypes in a single family.
Across these three reports, no two patients share the same breakpoint or the same imbalance. The 2016 case involves a trisomy, not a deletion, of 6q24.3-q27. The 2017 case involves a 2.04 Mb deletion at 6q27. No drug, no treatment, and no clinical trial is mentioned in any abstract. What is missing is any systematic collection of patients with overlapping 6q24-q25 deletions, any natural history data, any cell or animal model, and any funding for a therapy development pipeline. Without a defined patient cohort and a molecular mechanism that can be targeted, drug repurposing cannot begin.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
PubMed · 2016 · 0 citations
[Cytogenetic and molecular characterization of a patient with partial 6q trisomy and 1q monosomy].
AbstractOBJECTIVE: To analyze a girl with moderate mental retardation and speech and language disorders with cytogenetics technique and next-generation sequencing (NGS). METHODS: G-banding chromosome analysis was used to ascertain the karyotype of the child and her parents, and NGS was used for determining the size and origin of the abnormal chromosome fragment. Mate-pair and PCR were used to determine its parental origin. RESULTS: The karyotype of the child was determined to be 46,XX,add(1)(q44)dn, while her parents were both normal. NGS revealed that the child has harbored a partial trisomy of 6q24.3-q27, and the breakpoint was mapped to at 6q24.3q27. In addition, a 2.5 Mb microdeletion at 1q44 was found in the patient. CONCLUSION: No recognizable phenotype was associated with 1q44 deletion. The abnormal phenotypes presented by the child may be attributed to the 6q24.3-q27 triplication. Compared with conventional cytogenetic analysis, NGS has a much higher resolution and great accuracy.
[Genetic analysis of a Chinese pedigree with 18q21.2-q22.3 duplication and deletion in two offspring respectively resulting from a maternal intrachromosomal insertion].
AbstractOBJECTIVE: To provide prenatal diagnosis, pedigree analysis and genetic counseling for a pregnant woman who had given birth to a child featuring global developmental delay. METHODS: A pregnant woman who underwent prenatal diagnosis at the Affiliated Hospital of Southwest Medical University in August 2021 was selected as the study subject. Peripheral blood samples were collected from the woman, her husband and child, in addition with amniotic fluid sample during mid-pregnancy. Genetic variants were detected by G-banded karyotyping analysis and copy number variation sequencing (CNV-seq). Pathogenicity of the variant was predicted based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). Candidate variant was traced in the pedigree to assess the recurrence risk. RESULTS: The karyotypes of the pregnant woman, her fetus, and affected child were 46,XX,ins(18)(p11.2q21q22), 46,X?,rec(18)dup(18)(q21q22)ins(18)(p11.2q21q22)mat and 46,XY,rec(18)del(18)(q21q22)ins(18)(p11.2q21q22)mat, respectively. Her husband was found to have a normal karyotype. CNV-seq has revealed a 19.73 Mb duplication at 18q21.2-q22.3 in the fetus and a 19.77 Mb deletion at 18q21.2-q22.3 in her child. The duplication and deletion fragments were identical to the insertional fragment in the pregnant woman. Based on the ACMG guidelines, the duplication and deletion fragments were both predicted to be pathogenic. CONCLUSION: The intrachromosomal insertion of 18q21.2-q22.3 carried by the pregnant woman had probably given rise to the 18q21.2-q22.3 duplication and deletion in the two offspring. Above finding has provided a basis for genetic counseling for this pedigree.
[Prenatal diagnosis and genetic analysis of a fetus with 6q27 microdeletion].
AbstractOBJECTIVE: To determine the origin and pathogenicity of a chromosomal aberration for a fetus and analyze the possible mechanism. METHODS: The karotypes of the fetus and its parents were analyzed with routine G-banding. Their genomic DNA was also analyzed with array comparative genomic hybridization (aCGH). RESULTS: No karyotypic abnormality was detected at cytogenetic level for the fetus and its parents. aCGH has identified a de novo 2.04 Mb deletion at 6q27 in the fetus. The region involves candidate genes responsible for structural brain abnormalities. The area flanking the chromosomal breakpoint contains a 2410 bp sequence rich in palindromes which can form stable secondary structures. CONCLUSION: The de novo 6q27 deletion is pathogenic. The 6q27 deletion may be responsible for the structural brain abnormalities in the fetus. The palindrome sequence flanking the chromosomal breakpoint may be involved the formation of the 6q27 deletion.
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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