DeCure for Temtamy preaxial brachydactyly syndrome
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for temtamy preaxial brachydactyly syndrome — 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 moduleTemtamy preaxial brachydactyly syndrome 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 temtamy preaxial brachydactyly 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.
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 · 1994 · 6 citations
Preaxial brachydactyly with abduction of thumbs and hallux varus: A distinct entity
AbstractWe describe a father and his daughter who had a unique pattern of preaxial brachydactyly, and unusual facial appearance. Both had short broad abducted thumbs and halluces. The second digits of both hands were also short and broad and those of feet were medially angulated. The radiographic findings were short first metacarpals and first metatarsals and hypoplastic phalanges of first two digits of hands and feet. A similar pattern of brachydactyly was described by Christian et al. [1972: Am J Hum Genet 24:694-701] and Mononen et al. [1992: Am J Med Genet 42: 706-713]. Our patients differ from those described by Christian et al. in that they did not have any mental retardation and from those of Mononen et al. by the absence of short stature and epiphyseal and metaphyseal changes. The heterogeneity of this new type of brachydactyly remains to be resolved.
Middle East Journal of Medical Genetics · 2014 · 2 citations
A report of another Egyptian patient with Temtamy preaxial brachydactyly syndrome associated with a novel nonsense CHSY1 mutation
AbstractMiddle East Journal of Medical Genetics 2014, 3:37–41 Temtamy preaxial brachydactyly syndrome (TPBS; OMIM: 605282) is a rare autosomalrecessive skeletal disorder. Loss-of-function mutations in the human CHSY1 gene were found to cause TPBS. The syndrome has been reported and homozygous or compound heterozygous mutations have been confirmed in 16 patients worldwide from consanguineous families. Seven reported patients were Egyptians. Here we report on an additional Egyptian patient with TPBS, an offspring of consanguineous parents. Phenotype analysis and molecular studies were performed on the family. Clinical examination of the studied patient confirmed the facial dysmorphic features and typical digital anomalies. Molecular studies revealed a novel homozygous nonsense mutation in exon 2 of the CHSY1 gene, c.613G4T (p.E205X). The mutation was found in the heterozygous state in both parents and was not found in 200 normal chromosomes of Egyptian origin by PCR and restriction fragment length polymorphism (PCR-RFLP) analysis. This case report adds a new Egyptian patient with TPBS with a novel mutation in the CHSY1 gene. The total number of reported cases has now reached 17, including eight Egyptian patients. The study confirms our previous conclusion that the syndrome is an easily recognizable dysmorphic syndrome and that the rarity of worldwide reports could be due to underdiagnosis.
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.
