DeCure for Tetraamelia-multiple malformations syndrome
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for tetraamelia-multiple malformations syndrome — 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 moduleTetraamelia-multiple malformations syndrome 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 tetraamelia-multiple malformations 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.
Molecular view
Wnt family member 3 (WNT3) — WNT3 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 pamdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 6AHY · 2.8 Å · ligand PALMITOLEIC ACID (PAM). Experimental structure, not a prediction.
What the evidence adds up to
Tetraamelia-multiple malformations syndrome is a rare condition characterised by the absence of all four limbs. A 1997 case report describes a male infant born at 43 weeks of gestation with tetraamelia: the upper limbs were reduced to very short stumps containing a single bone, and the lower limbs were totally absent. Additional findings included a facial hemangioma, mild micrognathia, testis ectopia, and osseous malformations. Magnetic resonance imaging showed no significant brain abnormality but disclosed a cervico-dorso-lumbar syringomyelic cord without other spinal malformations. The report discusses both teratogenic and genetic causes but does not establish a specific aetiology.
No molecular basis for tetraamelia-multiple malformations syndrome is identified in the available literature. A 2015 review of overgrowth syndromes describes numerous multiple malformation syndromes with known molecular causes — including Sotos, Malan, Marshall-Smith, Weaver, Simpson-Golabi-Behmel, Perlman, Bannayan-Riley-Ruvalcaba, PI3K-related, Proteus, Beckwith-Wiedemann, fibrous dysplasia, Klippel-Trenaunay-Weber, and Maffucci — but tetraamelia is not among them. A 2005 review of molecular dysmorphology discusses the merging of clinical dysmorphology with genomics and developmental biology to delineate the molecular basis of abnormal development, but it does not provide specific findings for tetraamelia.
No drug treatment, clinical trial, or therapeutic intervention for tetraamelia-multiple malformations syndrome is reported in any of these abstracts. The condition remains without a defined molecular cause, and no evidence of any pharmacological approach to management exists in this literature.
What is still missing is any funded research programme aimed at identifying the genetic basis of this specific syndrome, a patient cohort large enough for meaningful genomic analysis, and any preclinical or clinical trial design that could test a therapeutic strategy.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Journal of Pediatric Genetics · 2015 · 76 citations · open access
Overgrowth Syndromes
AbstractNumerous multiple malformation syndromes associated with pathologic overgrowth have been described and, for many, their molecular bases elucidated. This review describes the characteristic features of these overgrowth syndromes, as well as the current understanding of their molecular bases, intellectual outcomes, and cancer predispositions. We review syndromes such as Sotos, Malan, Marshall-Smith, Weaver, Simpson-Golabi-Behmel, Perlman, Bannayan-Riley-Ruvalcaba, PI3K-related, Proteus, Beckwith-Wiedemann, fibrous dysplasia, Klippel-Trenaunay-Weber, and Maffucci.
AbstractWe report a male infant born at 43 weeks of gestation with tetraamelia. The upper limbs consisted of the presence of very short stumps containing a single bone. The lower limbs were totally absent. There were also a facial hemangioma, mild micrognathia, testis ectopia and osseous malformations. A magnetic resonance imaging exam showed no significant abnormality of the brain but disclosed a cervico-dorso-lumbar syringomyelic cord without any other associated spinal malformation. Teratogenic as well as genetic causes are discussed.
Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics · 2005 · 0 citations
Molecular dysmorphology
AbstractAbstract Clinical dysmorphology includes the diagnosis and management of patients with multiple malformation syndromes. When this clinical practice is merged with the research disciplines of genomics and developmental biology, it is called molecular dysmorphology. The goals of this scientific discipline are the delineation of the molecular basis of normal and abnormal development and the improvement of the care of patients affected by these disorders through increased knowledge. The development of the field is reviewed and examples are presented to demonstrate the power and excitement of this discipline.
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.
