DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for spondyloepiphyseal dysplasia tarda — screening already-approved drugs against its 1-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleSpondyloepiphyseal dysplasia tarda maps to a 1-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 spondyloepiphyseal dysplasia tarda 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.
What the evidence adds up to
Three novel mutations in the SEDL gene were identified in 2003 in families with X-linked spondyloepiphyseal dysplasia tarda. One Italian family carried a mutation in the rare, non-canonical 5' splice site of intron 4 (IVS4+4T>C). Reverse transcription-polymerase chain reaction showed that this mutation causes alternative splicing of exon 5 and inclusion of exon 4b sequence, producing an altered, truncated SEDL protein. Two new deletions were also described: a 4-bp deletion in exon 6 [333-336del(GAAT)] in a Slovak patient, and a 1.335-kb deletion (in5/ex6del) in a Belgian patient. These three mutations added to the spectrum of 30 mutations previously identified in the SEDL gene.
A separate 2003 report described a previously unrecognised form of spondyloepiphyseal dysplasia tarda in two independent families. Parental consanguinity was present in one family, suggesting autosomal recessive inheritance. Onset occurred in late childhood. Radiographic abnormalities were limited to the spine and proximal femora; patients' hands were normal. The authors stated that this entity differed from X-linked, autosomal-dominant, and already delineated autosomal recessive forms based on clinical and radiographic differences. They noted that final genotypic characterisation would require genetic linkage studies and molecular genetics investigations.
A 1983 report of seven cases described the disease as having a very uniform clinical presentation: shortening of stature with pains in the spine and large joints secondary to early osteoarthritic changes, with little variability. Hump-shaped lower thoracic and lumbar vertebral bodies were noted as the diagnostic radiographic feature.
No drug treatment, clinical trial, or therapeutic intervention is mentioned in any of these abstracts. What is missing is any molecular understanding of how SEDL mutations cause the skeletal phenotype, any animal model for testing compounds, any patient stratification beyond mutation type, and any funding or trial design aimed at repurposing an existing drug.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Clinical Genetics · 2003 · 45 citations
Identification of three novel <i>SEDL</i> mutations, including mutation in the rare, non‐canonical splice site of exon 4
AbstractSpondyloepiphyseal dysplasia tarda (SEDT) is an X-linked recessive disorder, characterized by disproportionately short stature and degenerative joint disease, which manifests in the early teens. The gene responsible for SED tarda, SEDL, has been identified in Xp22. We report on three novel SEDL mutations. The first mutation is in the rare, non-canonical 5' splice site of intron 4 (IVS4+4T>C) in an Italian family. Reverse transcription-polymerase chain reaction (RT-PCR) analysis has revealed that this mutation causes alternative splicing of exon 5, and, as a consequence, inclusion of exon 4b sequence. This gives rise to an altered, truncated SEDL protein. We also describe two new deletions: one is a 4-bp deletion in exon 6 [333-336del(GAAT)], identified in a Slovak patient with SEDT, and one is a 1.335-kb deletion (in5/ex6del), found in a Belgian patient. The identification of these novel mutations in SEDL adds to the spectrum of 30 mutations previously identified. A short summary of all currently known SEDL gene mutations is presented.
American Journal of Medical Genetics Part A · 2003 · 7 citations
A new type of autosomal recessive spondyloepiphyseal dysplasia tarda
AbstractRepeated occurrence of a hitherto unrecognized form of spondyloepiphyseal dysplasia tarda (SED tarda) has been studied in two independent families. Because parental consanguinity was also present in one family, autosomal recessive inheritance is proposed. The onset was in late childhood. The slowly evolving disorder shared several features of the already known types of SED tarda. The radiographic abnormalities were limited to the spine and proximal femora. The patients' hands were normal. The entity described is set apart not only from the X-linked and autosomal-dominant forms of SED tarda but also from the already delineated autosomal recessive types by significant clinical and radiographic differences. Final genotypic characterization must await the results of genetic linkage studies and of appropriate molecular genetics investigations.
Spondylo‐Epiphysealis Dysplasia Tarda (Report of 7 cases)
AbstractSUMMARY Seven cases of spondyloepiphyseal dysplasia tarda are reported. The disease has a very uniform clinical presentation ‐ shortening of stature with pains in spine and large joints secondary to early osteoarthritic changes ‐ with little variability. hump &aped lower thoracic and lumbar vertebral bodies are the diagnostic feature Of the disease.
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.
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