DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for 2q37 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 module2q37 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 2q37 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
histone deacetylase 4 (HDAC4) — HDAC4 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 3-phenyl-5,6-dihydroimidazo[1,2-a]pyrazin-7(8hdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 2VQM · 1.8 Å · ligand N-hydroxy-5-[(3-phenyl-5,6-dihydroimidazo[1,2-a]pyrazin-7(8H)-yl)carbonyl]thiophene-2-carboxamide (HA3). Experimental structure, not a prediction.
What the evidence adds up to
No abstract in this set reports a clinical trial or treatment for 2q37 microdeletion syndrome. The six abstracts describe other microdeletion syndromes (22q11.2, 5q14.3, 14q12q13, 15q24) and their genotype–phenotype correlations. One abstract is a scoping review of patient-reported experiences in 22q11.2 deletion syndrome, noting that direct patient perspectives are scarce and poorly reported. No drug, no intervention, no outcome measure for 2q37 microdeletion syndrome appears in any of these papers.
The 2022 study of 59 patients with 22q11.2 deletion syndrome found that 76% had the classic LCR A-D deletion, and identified 14 atypical deletions including single-gene deletions of DGCR8 and TOP3B. The 2021 case report of 5q14.3 microdeletion syndrome used whole exome sequencing and CNV-seq to identify a 4.76 Mb deletion encompassing MEF2C and RASA1, and attributed the phenotype to MEF2C haploinsufficiency. The 2023 case of 14q12q13 microdeletion syndrome used CMA to confirm a 4.12 Mb deletion including NKX2-1, the gene for congenital hypothyroidism. The 2019 series of three patients with 15q24 microdeletion syndrome identified overlapping deletions of 3.10–3.14 Mb encompassing CPLX3, SEMA7A, and SIN3A.
For 2q37 microdeletion syndrome specifically, what is missing is any published evidence of a drug being tested, any trial design, any patient stratification, and any funding directed at pharmacological intervention. The existing literature on other microdeletion syndromes shows that diagnosis relies on chromosomal microarray or sequencing, and that genotype–phenotype correlations are still being mapped. Without a single abstract addressing treatment for 2q37 microdeletion syndrome, no conclusion about efficacy or safety of any drug can be drawn.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Genes · 2022 · 23 citations · open access
Different Types of Deletions Created by Low-Copy Repeats Sequences Location in 22q11.2 Deletion Syndrome: Genotype–Phenotype Correlation
AbstractThe most frequent microdeletion, 22q11.2 deletion syndrome (22q11.2DS), has a wide and variable phenotype that causes difficulties in diagnosis. 22q11.2DS is a contiguous gene syndrome, but due to the existence of several low-copy-number repeat sequences (LCR) it displays a high variety of deletion types: typical deletions LCR A-D-the most common (~90%), proximal deletions LCR A-B, central deletions (LCR B, C-D) and distal deletions (LCR D-E, F). METHODS: We conducted a retrospective study of 59 22q11.2SD cases, with the aim of highlighting phenotype-genotype correlations. All cases were tested using MLPA combined kits: SALSA MLPA KIT P245 and P250 (MRC Holland). RESULTS: most cases (76%) presented classic deletion LCR A-D with various severity and phenotypic findings. A total of 14 atypical new deletions were identified: 2 proximal deletions LCR A-B, 1 CES (Cat Eye Syndrome region) to LCR B deletion, 4 nested deletions LCR B-D and 1 LCR C-D, 3 LCR A-E deletions, 1 LCR D-E, and 2 small single gene deletions: delDGCR8 and delTOP3B. CONCLUSIONS: This study emphasizes the wide phenotypic variety and incomplete penetrance of 22q11.2DS. Our findings contribute to the genotype-phenotype data regarding different types of 22q11.2 deletions and illustrate the usefulness of MLPA combined kits in 22q11.2DS diagnosis.
[Clinical phenotype and genetic analysis of a case of 5q14.3 microdeletion syndrome].
AbstractOBJECTIVE: To explore the clinical features and genetic characteristics of a child with 5q14.3 microdeletion syndrome. METHODS: Whole exome sequencing (WES) and low-coverage massively parallel copy number variation sequencing (CNV-seq) were used to determine the potentially pathogenic variants as well as the copy number variations (CNVs). Candidate CNVs were verified by real-time fluorescence quantitative PCR. RESULTS: The patient presented with psychomotor retardation, epilepsy, peculiar face and hypotonia. The results of WES suggested that he has carried a heterozygous deletion for chr5:86 564 268-88 119 605. CNV-seq indicated that the patient carried a heterozygous deletion of 4.76 Mb heterozygous deletion on chromosome 5q14.3. The MEF2C gene and RASA1 gene in the deletion area were verified by real-time fluorescence quantitative PCR. The results showed that the MEF2C geneand RASA1 gene were heterozygous deletion, which was consistent with the sequencing results. CONCLUSION: The child was diagnosed with 5q14.3 microdeletion syndrome. Haploinsufficiency of the MEF2C gene may underlie the manifestations of 5q14.3 microdeletion syndrome.
[Clinical phenotype and genetic analysis of a child with 14q12q13 microdeletion syndrome manifesting as congenital hypothyroidism].
AbstractOBJECTIVE: To analyze the clinical phenotype and genetic etiology for a child featuring congenital hypothyroidism (CH). METHODS: Whole exome sequencing (WES), copy number variation (CNV) sequencing and chromosomal microarray analysis (CMA) were carried out for a newborn infant who had presented at Linyi People's Hospital for CH. Clinical data of the child was analyzed, in addition with a literature review. RESULTS: The main characteristics of the newborn infant had included peculiar face, vulvar edema, hypotonia, psychomotor retardation, recurrent respiratory tract infection with laryngeal wheezing and feeding difficulties. Laboratory test indicated hypothyroidism. WES suggested a CNV deletion on chromosome 14q12q13. CMA further confirmed a 4.12 Mb deletion at chromosome 14q12q13.3 (32649595_36769800), which has encompassed 22 genes including NKX2-1, the pathogenic gene for CH. The same deletion was found in neither of her parents. CONCLUSION: Through the analysis of clinical phenotype and genetic variant, the child was diagnosed with 14q12q13.3 microdeletion syndrome.
Undeleting the Voices of Patients with 22q11 Deletion Syndrome: A Scoping Review
Abstract22q11DS is the most common microdeletion syndrome (1/4000). It is generally a De Novo microdeletion but in some cases, it is transmitted by the parents. The affected individuals have multiple bodily dysfunctions ranging from physical to mental and intellectual disabilities. The complexity of the disease makes it hard on families to cope with the resulting needs, therefore, their wellbeing and quality of life is extremely affected, as shown in literature. However, information coming from the affected individuals themselves is scarce and poorly reported. This is the reason why a scoping review is deemed necessary to present a broader view on available data, taking into consideration the perspective of these patients on living with the disease and to stress on the existing knowledge gap.
[Clinical and genetic analysis of three pediatric patients with 15q24 microdeletion syndrome].
AbstractOBJECTIVE: To explore the genetic basis for three patients with development delay and to correlate their clinical phenotypes with genetic findings. METHODS: The karyotypes of the probands and their parents were analyzed by conventional G-banding. Chromosomal microarray analysis (CMA) was used to detect microdeletion and microduplication. RESULTS: No kartotypic abnormality was detected in the patients and their parents. CMA analysis identified a de novo 3.10 Mb deletion on chromosome 15q24.1q24.2 in case 1, a de novo 3.14 Mb deletion at 15q24.1q24.2 in case 2, and a 3.13 Mb deletion at 15q24.1q24.2 in case 3. All deletions have encompassed the CPLX3,SEMA7A and SIN3A genes. CONCLUSION: The three patients were diagnosed with 15q24 microdeletion syndrome. CPLX3,SEMA7A and SIN3A may be the key genes responsible for this syndrome.
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.
