DeCure for Short-rib thoracic dysplasia 9 with or without polydactyly
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for short-rib thoracic dysplasia 9 with or without polydactyly — screening already-approved drugs against its 3-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleShort-rib thoracic dysplasia 9 with or without polydactyly maps to a 3-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 short-rib thoracic dysplasia 9 with or without polydactyly 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
WD repeat domain 19 (WDR19) — WDR19 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 8BBG · 3.5 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
Short-rib thoracic dysplasia 9 with or without polydactyly belongs to a group of lethal skeletal dysplasias inherited in an autosomal recessive pattern. The group is defined by markedly short ribs, short limbs, usually polydactyly, and multiple anomalies of major organs. A 2002 review of 10 fetuses or stillbirths found that each case had some radiological features of the four established types of short rib-polydactyly syndrome, making differentiation between those types difficult. The overlapping phenotypes led the authors to support the hypothesis that the subtypes are not single entities but part of a continuous spectrum with variable expressivity.
A 2024 case report described a fetus with short-rib thoracic dysplasia and polydactyly that also presented with atypical severe acro-mesomelic ossification defects. Genetic analysis using massively parallel sequencing of a skeletal dysplasia panel identified compound heterozygous variants in DYNC2H1. The report emphasised the challenges of diagnosing the diverse phenotypes in this group and the importance of genetic surveillance with a targeted gene panel for accurate diagnosis.
A 2018 textbook chapter covers the broader category of short-rib (± polydactyly) dysplasias, including asphyxiating thoracic dysplasia, Ellis van Creveld syndrome, and several named short rib-polydactyly syndrome types (Saldino-Noonan, Verma-Naumoff, Majewski, Beemer-Langer), as well as cranioectodermal dysplasia, Mainzer-Saldino syndrome, and axial spondylometaphyseal dysplasia. Each entry includes major radiographic features, clinical findings, genetics, and differential diagnoses.
No treatment, survival data, or response rates are reported in any of these abstracts. What is still missing is any clinical trial, any therapeutic intervention tested in humans, any patient stratification by genotype, and any funding directed toward treatment development for this specific condition.
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 · 2002 · 70 citations
Diagnostic dilemmas in the short rib–polydactyly syndrome group
AbstractThe short rib-polydactyly syndromes are a group of lethal skeletal dysplasias with autosomal recessive inheritance characterized by markedly short ribs, short limbs, usually polydactyly, and multiple anomalies of major organs. At least four types have been recognized. The radiological findings of 10 cases are presented. Each fetus or stillbirth has some of the radiological features of the four established types of short rib-polydactyly syndrome and raises diagnostic dilemmas in differentiating these entities. The overlapping phenotypes of these fetuses supports the previously suggested hypothesis that the different subtypes of the short rib-polydactyly syndrome group are not single entities, but rather part of a continuous spectrum with variable expressivity.
Human Genome Variation · 2024 · 0 citations · open access
Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing
AbstractWe report a case of a fetus with short-rib thoracic dysplasia (SRTD) with polydactyly that also presented with atypical severe acro-mesomelic ossification defects. Genetic analysis using massively parallel sequencing of a skeletal dysplasia panel revealed compound heterozygous variants in DYNC2H1. This clinical report highlights the challenges associated with diagnosing the diverse phenotypes in the SRTD group and emphasizes the importance of genetic surveillance with a targeted gene panel for accurate diagnosis.
Oxford University Press eBooks · 2018 · 0 citations
Short-Rib (±Polydactyly) Dysplasias
AbstractThis chapter discusses short-rib (± polydactyly) dysplasias and related disorders and includes discussion on asphyxiating thoracic dysplasia, Ellis van Creveld syndrome, short rib ±polydactyly syndrome (Saldino-Noonan and Verma-Naumoff types), short rib (±polydactyly) syndrome (Majewski type), short rib ±polydactyly syndrome (Beemer-Langer type), cranioectodermal dysplasia, Mainzer-Saldino syndrome, and axial spondylometaphyseal dysplasia. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.
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.
