DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for asphyxiating thoracic dystrophy 3 — screening already-approved drugs against its 7-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleAsphyxiating thoracic dystrophy 3 maps to a 7-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 asphyxiating thoracic dystrophy 3 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
A 13-month-old patient with Jeune's asphyxiating thoracic dystrophy was treated with a methyl-methacrylate prosthesis. Recovery was fast, but the patient died of respiratory distress two months after surgery. The 1998 report notes limitations of available surgical techniques and the need for long-term results.
A 2017 case describes a six-month-old male admitted with recurrent lung infections, thoracic dystrophy, and respiratory distress, diagnosed as Jeune syndrome. Genetic analysis detected a DYNC2H1 mutation, and high-speed video microscopy showed ciliary dysfunction. The report links the condition to mutations in genes for motile cilia proteins.
Two 2022 surgical reports describe different approaches. One describes a 13-year-old male with severe pulmonary hypertension, previously considered a contraindication to surgery, who underwent the Wenlin procedure with satisfactory results. The other divides the disease into type I (cylindrical, slight depressions) and type II (non-cylindrical, serious depressions). For type I, median thoracic expansion alone was deemed not ideal due to depressions; adding a Nuss procedure in a three-year-old patient achieved good results.
No drug treatment is mentioned in any of these abstracts. The evidence consists entirely of single-case surgical reports, with one death and no controlled data. What is missing are prospective multi-centre trials, standardised outcome measures, and any stratification of patients by genetic mutation or pulmonary function before surgery.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
European Journal of Pediatric Surgery · 1998 · 28 citations
Jeune's Asphyxiating Thoracic Dystrophy of the Newborn
AbstractA 13-month-old patient with Jeune's thoracic asphyxiating dystrophy, was surgically treated using a methyl-methacrylate (acrylic) prosthesis. Although postoperative recovery was fast, the patient died of respiratory distress two months following surgery. Limitations of currently available surgical techniques and the need for long-term results will be discussed.
The Clinical Respiratory Journal · 2017 · 12 citations
<i>DYNC2H1</i> mutation causes Jeune syndrome and recurrent lung infections associated with ciliopathy
AbstractAsphyxiating thoracic dystrophy, also known as Jeune syndrome, is included in a group of syndromic skeletal ciliopathies associated with mutations in genes encoding proteins involved in the formation or function of motile cilia. Herein, we report a 6-mo-old male admitted to hospital with recurrent lung infections, thoracic dystrophy, and respiratory distress that was diagnosed as Jeune syndrome; DYNC2H1 mutation was detected via genetic analysis and ciliary dysfunction was noted via high-speed video microscopy.
International Journal of Case Reports in Surgery · 2022 · 11 citations · open access
Wenlin procedure for aphyxiating thoracic dystrophy with severe pulmonary hypertension
AbstractSurgery is the only effective method for the treatment of asphyxiating thoracic dystrophy, but it was considered that severe pulmonary hypertension was the contraindication. We report a 13-year-old male patient of asphyxiating thoracic dysplasia with severe pulmonary hypertension. We performed Wenlin procedure for him and achieved satisfactory results.
International Journal of Surgery Science · 2022 · 6 citations · open access
Surgical treatment of asphyxiating thoracic dystrophy with median thoracic expansion and Nuss procedure
AbstractAsphyxiating thoracic dystropy can be divided into two types: type I is cylindrical with slight depressions on chest wall, and type II is non-cylindrical with serious depressions on the chest wall. The nature of the depressions determines the choice of operation. For type I patients, the relatively reasonable operation is median thoracic expansion. However, due to the existence of depressions, the effect is not ideal. In order to eliminate the effect of depression, we designed a operation with an additional Nuss procedure to median thoracic expansion. We applied this operation to a 3-year-old patient and achieved good results.
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.
