DeCure for Short-rib thoracic dysplasia 14 with polydactyly
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for short-rib thoracic dysplasia 14 with polydactyly — 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 moduleShort-rib thoracic dysplasia 14 with polydactyly 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 short-rib thoracic dysplasia 14 with 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
translocase of inner mitochondrial membrane 9 (TIMM9) — TIMM9 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 peedrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 7CGP · 3.7 Å · ligand 1,2-dioleoyl-sn-glycero-3-phosphoethanolamine (PEE). Experimental structure, not a prediction.
What the evidence adds up to
Short-rib thoracic dysplasia 14 with polydactyly belongs to a group of lethal skeletal dysplasias inherited in an autosomal recessive pattern. The core features are markedly short ribs, short limbs, polydactyly, and multiple anomalies of major organs. A 2002 review of 10 fetuses and stillbirths found that each case had some radiological features of the four established types but that the phenotypes overlapped so extensively that differentiating the entities was a diagnostic dilemma. The authors concluded that the subtypes are not single entities but part of a continuous spectrum with variable expressivity.
A 2019 case report described a 30-week fetus with short-rib polydactyly syndrome type 3 (Verma-Naumoff) presenting with thoracic hypoplasia, short limbs, and postaxial polydactyly. A 2024 report of a fetus with short-rib thoracic dysplasia and polydactyly also showed atypical severe acro-mesomelic ossification defects. Genetic analysis using massively parallel sequencing of a skeletal dysplasia panel revealed compound heterozygous variants in DYNC2H1. That report emphasised the challenges of diagnosing the diverse phenotypes in this group and the importance of targeted gene panel sequencing for accurate diagnosis.
No treatment or intervention of any kind was tested or described in any of these reports. The evidence consists entirely of case series and single-case descriptions of prenatal and perinatal findings. There is no data on survival beyond the neonatal period, no response rates, and no clinical trials. What is missing is any systematic effort to characterise the natural history of DYNC2H1-related short-rib thoracic dysplasia separately from other genotypes, any patient registry or longitudinal follow-up, and any funding for preclinical or clinical studies aimed at modifying the disease course.
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.
JOURNAL OF CLINICAL AND BIOMEDICAL SCIENCES · 2019 · 0 citations · open access
Case Report Of Short Rib Polydactyly Syndrome
AbstractShort rib polydactyly syndrome (SRPS) is a group of skeletal dysplasias manifested by short-limb dwarfism, short ribs with thoracic dysplasia and polydactyly. SRPS is an inherited autosomal-recessive disorder with dif-ferent prenatal sonographic and postnatal clinical, histological and radiologic findings. In this report, we pre-sent a case of SRPS type 3 (Verma-Naumoff) with thoracic hypoplasia, short limbs and postaxial polydactyly in a 30-week fetus. Keywords: Short rib polydactyly syndrome, Verma-Naumoff, Ultrasonography, Narrow thoracic cage
Southern Clinics of Istanbul Eurasia · 2017 · 0 citations · open access
Giant Fibrous Dysplasia of the Rib: A Case Report
AbstractFibrous dysplasia is a benign disease in which normal bone tissue is resorbed by fibrous tissue and immature bone structure. Fibrous dysplasia has been reported to account for approximately 5%-7% of all benign bone tumors; the rib involvement is rare. Surgical resection is the preferred treatment method in symptomatic patients, and the reconstruction should be carried out according to the size of the defect. Reconstruction technique involves stabilizing the thorax and closed soft tissue defects with a graft. This study aimed to present a case of an 18-year-old patient diagnosed with fibrous dysplasia characterized by atypical symptoms such as shortness of breath and pain reconstructed with sandwich graft.
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.
