DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for distal 16p11.2 microdeletion 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 moduleDistal 16p11.2 microdeletion 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 distal 16p11.2 microdeletion 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
SH2B adaptor protein 1 (SH2B1) — SH2B1 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 iphdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 5W3R · 1.386 Å · ligand PHENOL (IPH). Experimental structure, not a prediction.
What the evidence adds up to
A 2018 case report described a preterm infant with a distal 220 kb deletion at 16p11.2 who had unusual facial morphology and congenital heart disease. The report noted that distal 16p11.2 deletion is associated with developmental delay, autism spectrum disorder, epilepsy, and obesity at a young age, but provided no treatment or outcome data for the infant. A 2020 study identified a de novo 761.4 kb microdeletion at 16p11.2 in a child with developmental delay, intellectual disability, and language deficit; the child’s mother carried a 444.4 kb microduplication at 15q13.3 inherited from a phenotypically normal grandfather, and a prenatal diagnosis showed the fetus had inherited that same duplication. The study concluded the 16p11.2 deletion probably underlay the child’s abnormal phenotype, but again no intervention or follow-up was reported.
A 2016 study reported an 846 kb deletion at 16p13.11 in a boy with developmental delay, distinct facial dysmorphism, and multiple congenital anomalies; the deletion was confirmed by quantitative real-time PCR and was thought to arise from non-allelic homologous recombination. No treatment or outcome was described. Across these three studies, the total number of patients with a confirmed 16p11.2 or 16p13.11 deletion is three, and no drug, therapy, or clinical trial is mentioned in any abstract.
No evidence exists in these abstracts for any drug that modifies the course of distal 16p11.2 microdeletion syndrome. What is missing is any clinical trial, any patient stratification by deletion size or breakpoint, any longitudinal natural history data, and any funding for preclinical or translational work. Without these, the syndrome remains a cytogenetic diagnosis with no pharmacological handle.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Journal of genetic medicine · 2018 · 1 citations · open access
Diagnostic distal 16p11.2 deletion in a preterm infant with facial dysmorphism
AbstractThe 16p11.2 microdeletion has been reported in patients with developmental delays and intellectual disability. The distal 220kb deletion in 16p11.2 is associated with developmental delay, autism spectrum disorder, epilepsy, and obesity at a young age. We have reported a case of distal 16p11.2 deletion syndrome in a preterm infant with unusual facial morphology and congenital heart disease. We suggest using chromosome microarray analysis to detect chromosomal abnormalities in newborns, especially preterm infants with unusual morphologies.
[Molecular genetic analysis of a child with de novo 16p11.2 microdeletion].
AbstractOBJECTIVE: To explore the genetic basis for a child featuring developmental delay, intelligent disability and language deficit. METHODS: Peripheral blood samples of the child and her parents were collected for routine G-banding karyotyping analysis and single nucleotide polymorphism array (SNP array) detection. Amniotic fluid was also sampled from the mother for karyotyping analysis and SNP array detection. RESULTS: No karyotypic abnormality was found with the child and her parents. SNP array showed that the child has carried a 761.4 kb microdeletion at 16p11.2, while her mother has carried a 444.4 kb microduplication at 15q13.3. Her father's result was negative. Further analysis showed that the 15q13.3 microduplication was inherited from her maternal grandfather who was phenotypically normal. Prenatal diagnosis showed that the fetus has inherited the15q13.3 microduplication from its mother. CONCLUSION: The child has carried a de novo 16p11.2 microdeletion, which overlaps with 16p11.2 microdeletion syndrome region, in addition with similar clinical phenotypes. The 16p11.2 microdeletion probably underlies her abnormal phenotype.
[Clinical and genetic study of a child with mental retardation and multiple congenital anomalies and a 16p13.11 microdeletion].
AbstractOBJECTIVE: To determine the genetic cause for a boy with development delay and multiple congenital anomalies. METHODS: Routine chromosomal banding was performed to analyze the karyotype of the patient and his parents. Single nucleotide polymorphism array (SNP array) was employed to investigate cryptic chromosome aberrations, and quantitative real-time PCR (qPCR) was used to confirm the result. RESULTS: Karyotype analysis revealed no obvious anomaly for the patient and his parents. The karyotype of the patient was 46,XY. SNP array has detected an 846 kb deletion at 16p13.11, which was verified by qPCR. Clinical features of the patient included development delay, distinct facial dysmorphism and multiple congenital anomalies. CONCLUSION: A case of 16p13.11 microdeletion syndrome was identified. The deletion was probably induced by non-allelic homologous recombination (NAHR) at 16p13.11. SNP array and qPCR were helpful for the discovery of the microdeletion and have played an important role in the diagnosis and genetic counseling of the patient.
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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