DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Jeune syndrome — screening already-approved drugs against its 19-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleJeune syndrome maps to a 19-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 jeune 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
NIMA related kinase 1 (NEK1) — NEK1 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 2-amino-4-methyl-thiazol-5-yldrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 4B9D · 1.9 Å · ligand [4-(2-AMINO-4-METHYL-THIAZOL-5-YL)-PYRIMIDIN-2-YL]-(3-NITRO-PHENYL)-AMINE (CK7). Experimental structure, not a prediction.
What the evidence adds up to
Jeune syndrome, first described in 1955 in two siblings with a severely narrow thoracic cage, is a rare autosomal recessive skeletal dysplasia. Incidence in the USA is estimated at 1 per 100,000 to 130,000 live births. The condition is characterised by a narrow rigid thoracic cage, short limbs, and underdeveloped iliac wings; respiratory symptoms range from fatal respiratory failure in infancy to a latent phenotype with no respiratory symptoms. Survival has been reported to the fourth decade of life, but the syndrome carries a poor survival rate beyond the neonatal period. No race or sex predilection has been identified. One postulated gene locus is chromosome 15q13.
The most striking abnormality is thoracic hypoplasia. Skeletal survey shows horizontal short ribs with an irregular and enlarged costochondral junction, and small horizontal clavicles. Other reported signs include short stature, nail dysplasia, asplenia, early fusion between epiphyses and metaphyses, mental retardation, hydrocephalus, and retinal degeneration. Polyuria, polydipsia, and hypertension may appear during the second or third year of life. Early prenatal diagnosis is not possible, but detailed skeletal survey scanning after 14 weeks gestation can detect defining deformities. A 2015 case report describes diagnosis on second-trimester real-time three-dimensional ultrasound, which can guide management including termination or preparation for surgical correction.
A 2016 clinical case reports a baby diagnosed immediately after birth who also had multiple congenital malformations: Dandy–Walker anomaly, hexadactyly of the left hand, cleft palate, choroidal colobomas in both eyes, atrial septal defect, interstitial nephritis, and hepatitis. No drug treatment is mentioned in any of these abstracts. What is still missing is any evidence for pharmacological intervention, any systematic trial of a repurposed drug, any patient stratification beyond anatomical description, and any funding for such research.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Postgraduate Medical Journal · 2008 · 17 citations
Jeune syndrome
AbstractJeune syndrome was first described as familial asphyxiating thoracic dystrophy in a pair of siblings with severely narrow thoracic cage by Jeune et al in 1955.1 It is a rare genetic disorder, with a poor survival rate beyond the neonatal period,2 known to be genetically heterogeneous and characterised by short limbs, underdeveloped iliac wings and a narrow rigid thoracic cage, which often results in asphyxiation.1 Survival has been reported to the fourth decade of life,3 with no race or sex predilection. Incidence in the USA is estimated at 1 per 100 000–130 000 live births. One postulated gene locus for this autosomal recessive disorder is chromosome 15q13.4 Early prenatal diagnosis is not possible; however, detailed skeletal survey scanning after 14 weeks gestation can detect defining deformities. The more common signs of Jeune syndrome include short horizontal ribs, irregular costochondral junction, small thoracic cage, short stature, nail dysplasia, asplenia, early fusion between epiphyses and metaphyses, mental retardation, hydrocephalus and retinal degeneration. Respiratory symptoms vary widely from respiratory failure and infantile death to latent phenotype without respiratory symptoms. Polyuria, polydipsia and hypertension may be present during the second or third year of life.
Polish Journal of Radiology · 2015 · 9 citations · open access
Antenatal Diagnosis of Jeune Syndrome (Asphyxiating Thoracic Dysplasia) with Micromelia and Facial Dysmorphism on Second-Trimester Ultrasound
AbstractBACKGROUND: Jeune syndrome is a rare congenital malformation with a reported incidence of 1 in 100,000-130,000 live births. Thoracic hypoplasia is the most striking abnormality of this disorder. Here we report a case of Jeune syndrome with marked thoracic hypoplasia, micromelia and facial dysmorphism, which was diagnosed on a second-trimester antenatal real-time three-dimensional ultrasound. CASE REPORT: A 24-year-old primigravida came for routine anomaly scan at 19 weeks of gestation. Transabdominal grey scale and real time 3D ultrasound (US) was done with GE Logiq P5 with curvilinear array transducers (4C and 4D3C-L). US findings were consistent with the diagnosis of Jeune syndrome (Asphyxiating thoracic dysplasia). CONCLUSIONS: Jeune syndrome is an extremely rare congenital disorder with a spectrum of abnormalities of which thoracic hypoplasia is the most striking. It can be diagnosed on early antenatal US by its characteristic skeletal and morphological features which can guide further management of pregnancy in form of termination or preparation for surgical correction of the deformity.
Journal of Case Reports · 2012 · 8 citations · open access
Asphyxiating Thoracic Dystrophy (Jeune syndrome)
AbstractJeune syndrome (asphyxiating thoracic dystrophy, ATD) is a rare autosomal recessive skeletal dysplasia characterized by a small, narrow thorax and short limb dwarfism with a considerable neonatal mortality. W e report a case of Jeune syndrome admitted at our neonatal ICU. The child had narrow thorax with short limbs. Skeletal survey showed typical findings of horizontal short ribs with irregular and enlarged costochondral junction, small and horizontal clavicles .
Open Journal of Clinical and Medical Case Reports · 2023 · 1 citations · open access
Jeune syndrome: Case report
AbstractJeune syndrome, also known as asphyxiating thoracic dystrophy, was first described by Jeune et al in a couple of siblings back in 1955. He described 2 boys with certain distinctive characteristics, particularly a severely narrow thorax [1]. We now know it is a rare genetic condition presented in only 1 per 1000 000 130 000 live births in the USA [1].
DOAJ (DOAJ: Directory of Open Access Journals) · 2016 · 0 citations · open access
Clinical case of Jeune syndrome
AbstractThe paper reports a clinical case of Jeune syndrome in a baby, in whom the diagnosis was established immediately after his birth. He was also diagnosed as having multiple congenital malformations, such as Dandy–Walker anomaly, hexadactyly of the left hand, cleft palate, choroidal colobomas in both eyes, and atrial septal defect and he also had interstitial nephritis and hepatitis.
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.
