DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for autosomal recessive Robinow 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 moduleAutosomal recessive Robinow 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 autosomal recessive robinow 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
ROR family WNT receptor 2 (ROR2) — ROR2 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 4GT4 · 2.406 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
Two brothers born to normal first-cousin parents had short stature, shortening of the arms and legs, a characteristic face with widely spaced eyes, wide palpebral fissures, underdeveloped midface and large mouth, and underdeveloped genitals. Their paternal uncle also married a first cousin and had three similarly affected children. Parental consanguinity and affected individuals in two sibships of common ancestry strongly suggest autosomal recessive inheritance. A 2016 case report describes a patient with the autosomal recessive form and emphasises craniofacial and intraoral findings to aid diagnosis and dental management.
A 2012 report describes neuropathological findings in a patient with Robinow syndrome, including a DNT-like malformation. The dominant form is caused by heterozygous mutation in the WNT5A gene on chromosome 3p14.3; the recessive form has a separate genetic cause not specified in these abstracts. No treatment, drug, or intervention is mentioned in any of the three abstracts.
No clinical trial data, survival statistics, or response rates are available in these reports. What is missing is any molecular characterisation of the recessive form beyond the inheritance pattern, any animal model or cellular assay for drug screening, and any funding or trial design aimed at testing a therapy.
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 · 1990 · 48 citations
Autosomal recessive Robinow syndrome
AbstractTwo brothers of normal first-cousin parents were found to have Robinow syndrome. Their paternal uncle also married a first cousin and had 3 similarly affected children (2 boys, 1 girl). The 2 affected brothers had short stature, mesomelic and acromelic brachymelia, characteristic face with hypertelorism, wide palpebral fissures, midface hypoplasia and large mouth, and hypogenitalism. Parental consanguinity and affected individuals in 2 sibships of common ancestry strongly suggest autosomal recessive inheritance. Similar cases from the literature are briefly reviewed.
JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH · 2016 · 3 citations · open access
Orofacial Manifestations of Autosomal Recessive Robinow’s Syndrome: A Rare Case Report
AbstractRobinow's syndrome is a very rare genetic disorder which bears a resemblance to a foetal face. It is characterized by short-limbed dwarfism, defects in vertebral segmentation and abnormalities in the head, face and external genitalia. It has a genetic heterogeneity with autosomal dominant and recessive forms which relates to the severity of phenotype presentation. A rare case of an autosomal recessive form of Robinow's syndrome is presented with emphasis on, characteristic craniofacial and intraoral manifestations to aid in diagnosis and dental management of this patient.
German Medical Science (German Research Foundation) · 2012 · 0 citations · open access
DNT-like malformation and further neuropathological findings in a patient with Robinow syndrome
AbstractIntroduction: Robinow syndrome includes characteristic facial features, orodental abnormalities, mesomelic shortening of the limbs, a/hypoplasia of phalanges, and hypoplastic genitalia. A dominant form is caused by heterozygous mutation in the WNT5A gene on chromosome 3p14.3 and a recessive form[for full text, please go to the a.m. URL]
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.
