DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Jacobsen syndrome — screening already-approved drugs against its 2-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleJacobsen syndrome maps to a 2-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 jacobsen 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
ETS proto-oncogene 1, transcription factor (ETS1) — ETS1 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 3WTS · 2.35 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
Jacobsen syndrome is a rare contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11, with an estimated prevalence of 1 per 100,000 births and a female-to-male ratio of 2:1. The deletion is de novo in approximately 85% of reported cases and results from unbalanced segregation of a familial translocation or other rearrangements in about 15%. Deletion size ranges from 0.7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion usually extending to the telomere. One 2015 report described a novel 14.2-Mb deletion in chromosome 11q23.3q25 involving 163 RefSeq genes in a Mexican male, and a 2022 case reported a 9-Mb copy number loss in 11q24.2q25 in a 10-year-old female with dextrocardia, the first such association. Another 2003 case described a mosaic 46,XY,del(11)(q24.1)/46,XY karyotype with a very low percentage of normal cells.
The syndrome is catastrophic in 1 out of every 5 cases, with children usually dying within the first 2 years of life due to heart complications. Common clinical features include pre- and postnatal growth retardation, psychomotor retardation, intellectual disability, characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low-set posteriorly rotated ears), and multiple visceral malformations affecting the heart, kidney, gastrointestinal tract, genitalia, central nervous system, and skeleton. Abnormal platelet function, thrombocytopenia, or pancytopenia are usually present at birth. Ocular, hearing, immunological, and hormonal problems may also occur. The 2003 patient had transverse upper limb defect, imperforate anus, hearing impairment, functional impairment and deficiency of T-helper cells, and low serum immunoglobulin M, a combination not previously reported in Jacobsen syndrome. A 2022 review and case report noted combined humoral and cellular immunodeficiency.
No drug treatment for Jacobsen syndrome is mentioned in any of these abstracts. What is missing is any clinical trial data, any pharmacological intervention tested in patients, any animal model drug study, and any systematic effort to stratify patients by deletion size or specific gene loss. Without funding for natural history studies, biomarker development, and preclinical work to identify targetable pathways from the deleted region, no drug repurposing candidate can be proposed.
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 · 2003 · 28 citations
Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34‐year‐old patient with Jacobsen syndrome
AbstractWe describe a 34-year-old male patient with Jacobsen syndrome associated with a broad spectrum of anomalies and an increased susceptibility to infections. Features commonly seen in Jacobsen syndrome were short stature, mental retardation, congenital heart disease, cryptorchidism, strabismus, distal hypospadia glandis, and mild thrombocytopenia. Chromosome analysis disclosed a mosaic 46,XY,del(11)(q24.1)/46,XY karyotype with a very low percentage of normal cells. In addition, transverse upper limb defect, imperforate anus, and hearing impairment were noted. Cellular anomalies include functional impairment and deficiency of T-helper cells, and a low serum immunoglobulin M (IgM)-level. The presence of a transverse limb defect and primary immunodeficiency has not been reported previously in Jacobsen syndrome.
Molecular Syndromology · 2015 · 8 citations · open access
Jacobsen Syndrome: Surgical Complications due to Unsuspected Diagnosis, the Importance of Molecular Studies in Patients with Craniosynostosis
AbstractJacobsen syndrome (JBS) is an uncommon contiguous gene syndrome. About 85-92% of cases have a de novo origin. Clinical variability and severity probably depend on the size of the affected region. The typical clinical features in JBS include intellectual disability, growth retardation, craniofacial dysmorphism as well as craniosynostosis, congenital heart disease, and platelet abnormalities. The proband was a 1 year/3-month-old Mexican male. Oligonucleotide-SNP array analysis using the GeneChip Human Cytoscan HD was carried out for the patient from genomic DNA. The SNP array showed a 14.2-Mb deletion in chromosome 11q23.3q25 (120,706-134,938 Mb), which involved 163 RefSeq genes in the database of genomic variation. We report a novel deletion in JBS that increases the knowledge of the variability in the mutation sites in this region and expands the spectrum of molecular and clinical defects in this syndrome.
Molecular Syndromology · 2022 · 4 citations · open access
First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25)
AbstractJacobsen syndrome is a rare congenital disorder that is caused by the deletion of several genes in chromosome 11. A 10-year-old female with congenital heart disease, dextrocardia, and coarse facial appearance was examined in our medical genetics clinic. Chromosome analysis and array-CGH showed a copy number loss of 9 Mb in the 11q24.2q25 region. Herein, we report her clinical findings. This is the first case of Jacobsen syndrome with dextrocardia.
PEDIATRIA Journal named after G N SPERANSKY · 2022 · 0 citations
JACOBSEN SYNDROME: LITERATURE REVIEW AND CASE REPORT
AbstractJacobsen syndrome (JS) is a rare chromosomal anomaly caused by a deletion of the distal part of the long arm of chromosome 11, characterized by a variable phenotype, including delayed physical development, mental retardation, autism, facial skeletal dysmorphia (skull deformity, hypertelorism, ptosis, coloboma, anti-mongoloid eye incision, epicanthus, broad nasal bridge, short nose, v-shaped mouth, small ears, low-set ears that are rotated backward), multiple visceral malformations (heart, kidney, gastrointestinal tract, genitals), and of CNS and skeletal system, thrombocytopenia/thrombocytopathy or pancytopenia and combined immunodeficiency. The article presents a clinical case of a patient with JS with characteristic facial anomalies, neurological manifestations and immunological disorders, including humoral and cellular immunodeficiency.
Zenodo (CERN European Organization for Nuclear Research) · 2021 · 0 citations · open access
AN OVERVIEW OF LESS KNOWN JACOBSEN SYNDROMEAN OVERVIEW OF LESS KNOWN JACOBSEN SYNDROME
AbstractJacobsen syndrome is catastrophic in 1 out of every 5 cases, with children usually dying within the first 2 years of life due to heart complications. Jacobsen syndrome is a contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears). Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from 07 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q 23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia) and confirmed by cytogenetics analysis.
International Journal of Advanced Research · 2021 · 0 citations · open access
AN OVERVIEW OF LESS KNOWN JACOBSEN SYNDROMEAN OVERVIEW OF LESS KNOWN JACOBSEN SYNDROME
AbstractJacobsen syndrome is catastrophic in 1 out of every 5 cases, with children usually dying within the first 2 years of life due to heart complications. Jacobsen syndrome is a contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears). Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from 07 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q 23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia) and confirmed by cytogenetics analysis.
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.
