DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for acrofacial dysostosis Rodriguez type — 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 moduleAcrofacial dysostosis Rodriguez type 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 acrofacial dysostosis rodriguez type 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
splicing factor 3b subunit 4 (SF3B4) — SF3B4 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 2~{s},3~{s},4~{e},6~{s},7~{r},10~{r}drag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 7EVO · 2.5 Å · ligand [(2~{S},3~{S},4~{E},6~{S},7~{R},10~{R})-3,7-dimethyl-2-[(2~{E},4~{E},6~{R})-6-methyl-6-oxidanyl-7-[(2~{R},3~{R})-3-[(2~{R},3~{S})-3-oxidanylpentan-2-yl]oxiran-2-yl]hepta-2,4-dien-2-yl]-7,10-bis(oxidanyl)-12-oxidanylidene-1-oxacyclododec-4-en-6-yl] 4-cycloheptylpiperazine-1-carboxylate (9B0). Experimental structure, not a prediction.
What the evidence adds up to
A 2008 case report describes a chromosomally normal fetus with severe acrofacial dysostosis, bilateral transverse and oblique orofacial clefts, midface defects, preaxial limb anomalies including digitalisation of thumbs, and internal malformations of the cardiovascular, gastrointestinal, and urogenital systems. The mother had been treated with high doses of the immunosuppressant mycophenolate mofetil in early pregnancy for systemic lupus erythematosus. The authors conclude that mycophenolate mofetil may have contributed to or caused the acrofacial dysostosis phenotype and extensive clefting, and that when taken during pregnancy it may cause orofacial clefts or worsen the severity of a mandibulofacial dysostosis and facial clefting in a preexisting syndrome. This is a single case, not a controlled study.
A 1986 report describes a family with a previously undescribed acrofacial dysostosis syndrome segregating as an autosomal dominant trait. Craniofacial features were those of mild mandibulofacial dysostosis and were constant among affected relatives. Acral abnormalities were variable, predominantly affecting the radial ray, ranging from thumb duplication in one patient to mild hypoplasia of the first metacarpal and first proximal phalanx in most. The authors note that mandibulofacial dysostosis is a causally nonspecific malformation and a monotopic developmental field defect, and that its occurrence with acral anomalies in several conditions of different cause represents a polytopic developmental field defect. No drug exposure is reported in this family.
A 2014 report presents a new case of postaxial acrofacial dysostosis (Miller syndrome) with unusual orofacial and digital anomalies and mental retardation, describing intraoral findings that could aid diagnosis and management. No drug exposure or treatment is discussed. No controlled trials, survival data, or response rates exist for any drug in acrofacial dysostosis Rodriguez type. What is missing is any systematic investigation of drug safety or efficacy for this condition, along with patient stratification, trial design, and funding for natural history studies.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Obstetrics and Gynecology · 2008 · 35 citations
Severe Facial Clefts in Acrofacial Dysostosis
AbstractIn Brief BACKGROUND: Immunosuppressants are teratogenic in mice, rats, and rabbits and cause prenatal growth restriction in humans. As yet, there has been no proven teratogenicity in humans. CASE: We present a chromosomally normal fetus with severe acrofacial dysostosis and orofacial clefts. These were bilateral transverse and oblique clefts and defects of the midface. In addition, there were preaxial limb anomalies with digitalization of thumbs and internal cardiovascular, gastrointestinal, and urogenital malformations. The mother had been treated with high doses of the immunosuppressant mycophenolate mofetil in early pregnancy for systemic lupus erythematosus. CONCLUSION: Mycophenolate mofetil may have contributed to or even caused acrofacial dysostosis phenotype and extensive clefting. When taken during pregnancy, mycophenolate mofetil may cause orofacial clefts or contribute to the severity of a mandibulofacial dysostosis and facial clefting in a preexisting syndrome.
American Journal of Medical Genetics · 1986 · 23 citations
A new autosomal dominant acrofacial dysostosis syndrome
AbstractWe report on a family in which a previously undescribed acrofacial dysostosis syndrome is segregating as an autosomal dominant trait. Craniofacial manifestations are those of mild mandibulofacial dysostosis and are quite constant among affected relatives. The acral abnormalities are quite variable, affecting predominantly the radial ray. Variability extends from thumb duplication in one patient to mild hypoplasia of the first metacarpal and first proximal phalanx in most affected individuals. Mandibulofacial dysostosis is a causally nonspecific malformation and as such represents an apparently monotopic developmental field defect. Its occurrence with acral anomalies in several conditions of different cause represents a polytopic developmental field defect.
Journal of Oral and Maxillofacial Pathology · 2014 · 2 citations · open access
Orodental findings in postaxial acrofacial dysostosis
AbstractWe report a new case of postaxial acrofacial dysostosis (Miller) syndrome with expanded profile. The patient presented with unusual orofacial and digital anomalies along with mental retardation. This report emphasizes the recognized features of the syndrome as well as describes intraoral findings that could aid in the diagnosis and management of these patients.
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.
