DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for chromosome 1p36 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 1p36 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 1p36 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
heparan sulfate proteoglycan 2 (HSPG2) — HSPG2 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 apo structuredrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 3SH4 · 1.5 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
Chromosome 1p36 deletion syndrome occurs in between 1 in 5,000 and 1 in 10,000 live births in the American population, according to a 2022 review of 86 patients. The same study estimated at least 10 cases per year in France, making the syndrome much less frequent than 22q11.2 deletion syndrome or trisomy 21. The 86-patient cohort is described as the second-largest in the literature. Patients presented mainly with dysmorphism, microcephaly, developmental delay or intellectual disability, hypotonia, epilepsy, brain malformations, behavioural disorders, cardiomyopathy or cardiovascular malformations, and pre- or postnatal growth retardation. Cardiac abnormalities, brain malformations, and epilepsy were more frequent in distal deletions, whereas microcephaly was more common in proximal deletions. Mapping identified four critical regions responsible for intellectual disability.
A 2011 report described the largest contiguous terminal 1p36 deletion published to date, measuring approximately 16 Mb and covering both distal and proximal regions. That deletion caused a neonatally lethal variant with virtually exclusive features of distal 1p36 monosomy, suggesting a threshold deletion-size effect for haplo-lethality and highlighting the key importance of the gene-rich distal region for the compound phenotype. A separate 1984 case report of an interstitial deletion of chromosome 1 at q23-25 described a 3-month-old female with failure to thrive, psychomotor retardation, cleft lip and palate, short metacarpals, metatarsals and fingers, and severe congenital heart disease; that deletion is on the long arm, not the short arm, and is a different syndrome.
No drug treatment for chromosome 1p36 deletion syndrome is mentioned in any of the abstracts. The 2022 review states that improved management and follow-up are needed, but no trial, no drug, and no intervention beyond supportive care is described. What is missing is any preclinical or clinical work on pharmacological intervention, any funding for such work, any trial design, and any patient stratification beyond deletion size and position.
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 · 2022 · 39 citations · open access
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients
AbstractChromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1. The 1p36DS is characterized by typical craniofacial features, developmental delay/intellectual disability, hypotonia, epilepsy, cardiomyopathy/congenital heart defect, brain abnormalities, hearing loss, eyes/vision problem, and short stature. The aim of our study was to (1) evaluate the incidence of the 1p36DS in the French population compared to 22q11.2 deletion syndrome and trisomy 21; (2) review the postnatal phenotype related to microarray data, compared to previously publish prenatal data. Thanks to a collaboration with the ACLF (Association des Cytogénéticiens de Langue Française), we have collected data of 86 patients constituting, to the best of our knowledge, the second-largest cohort of 1p36DS patients in the literature. We estimated an average of at least 10 cases per year in France. 1p36DS seems to be much less frequent than 22q11.2 deletion syndrome and trisomy 21. Patients presented mainly dysmorphism, microcephaly, developmental delay/intellectual disability, hypotonia, epilepsy, brain malformations, behavioral disorders, cardiomyopathy, or cardiovascular malformations and, pre and/or postnatal growth retardation. Cardiac abnormalities, brain malformations, and epilepsy were more frequent in distal deletions, whereas microcephaly was more common in proximal deletions. Mapping and genotype-phenotype correlation allowed us to identify four critical regions responsible for intellectual disability. This study highlights some phenotypic variability, according to the deletion position, and helps to refine the phenotype of 1p36DS, allowing improved management and follow-up of patients.
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.
American Journal of Medical Genetics Part A · 2011 · 14 citations · open access
Contiguous ∼16 Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with haplo‐lethality
AbstractMonosomy 1p36 results from heterozygous deletions of the terminal short chromosome 1 arm, the most common terminal deletion in humans. The microdeletion is split in two usually non-overlapping and clinically distinct classical distal and proximal 1p36 monosomy syndromes. Using comparative genome hybridization, MLPA and qPCR we identified the largest contiguous ∼16 Mb terminal 1p36 deletion reported to date. It covers both distal and proximal regions, causes a neonatally lethal variant with virtually exclusive features of distal 1p36 monosomy, highlighting the key importance of the gene-rich distal region for the "compound" 1p36 phenotype and a threshold deletion-size effect for haplo-lethality.
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.
