DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Coffin-Siris syndrome 11 — 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 moduleCoffin-Siris syndrome 11 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 coffin-siris syndrome 11 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
SWI/SNF related BAF chromatin remodeling complex subunit D1 (SMARCD1) — SMARCD1 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.
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RCSB Protein Data Bank · entry 7VDV · 3.4 Å · ligand BERYLLIUM TRIFLUORIDE ION (BEF). Experimental structure, not a prediction.
What the evidence adds up to
The available literature on Coffin-Siris syndrome consists entirely of case reports and small case series, with no controlled trials or drug-repurposing studies. Two papers describe a total of four patients with mutations in the ARID1A gene. One 2022 report notes that the two children it describes had dissimilar presentation and clinical course, without giving specific survival or response data. A 2019 case report describes a patient with Coffin-Siris syndrome and significant autistic features but provides no quantitative outcomes. A 2023 paper adds two prenatal cases, one with a novel ARID1A variant and one with a SMARCB1 variant, and reports a severely hypoplastic right ventricle with VSD, truncus arteriosus type III, persisting left superior and inferior caval vein, bilateral olfactory nerve aplasia, and hypoplastic thymus. No treatment or intervention was tested in any of these reports.
No drug, repurposed or otherwise, has been investigated for Coffin-Siris syndrome in any of these publications. The evidence base is limited to descriptions of the natural history and phenotypic variability of the condition. There are no response rates, no survival statistics beyond individual case outcomes, and no data on any pharmacological intervention.
What is missing is any clinical trial, any systematic collection of outcomes, any patient stratification by genotype or phenotype, and any funding for interventional research. Without these, no conclusions about drug efficacy or repurposing can be drawn.
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 Case Reports · 2022 · 5 citations · open access
<scp>Coffin–Siris</scp> syndrome: Clinical description of two cases
AbstractCoffin-Siris syndrome is a rare disorder, which can be difficult to recognize. A broad spectrum of nonspecific clinical features is associated with Coffin-Siris syndrome, and the expression of these features is diverse. We describe two cases with Coffin-Siris syndrome with mutations in the ARID1A gene, with dissimilar presentation and clinical course.
Zenodo (CERN European Organization for Nuclear Research) · 2019 · 0 citations · open access
Coffin Siris Syndrome with Significant Autistic Features
AbstractAl-Mosawi AJ. Coffin Siris Syndrome with Significant Autistic Features. SunKrist Clinical and Medical Case Reports Journal.2019; 1(1): 1-3. Article No : scmcrj-v1-1002. Published Date: August 29, 2019. Doi: 10.5281/zenodo.3878428 https://casereports.sunkristpublishing.com/issue.php?id=MQ== https://casereports.sunkristpublishing.com/view_issue.php?id=Mw==
Zenodo (CERN European Organization for Nuclear Research) · 2019 · 0 citations · open access
Coffin Siris Syndrome with Significant Autistic Features
AbstractAl-Mosawi AJ. Coffin Siris Syndrome with Significant Autistic Features. SunKrist Clinical and Medical Case Reports Journal.2019; 1(1): 1-3. Article No : scmcrj-v1-1002. Published Date: August 29, 2019. Doi: 10.5281/zenodo.3878428 https://casereports.sunkristpublishing.com/issue.php?id=MQ== https://casereports.sunkristpublishing.com/view_issue.php?id=Mw==
Sage Journals Data · 2023 · 0 citations · open access
Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Disease
AbstractCoffin-Siris syndrome is an autosomal dominant disorder with neurological, cardiovascular, and gastrointestinal symptoms. Patients with Coffin-Siris syndrome typically have variable degree of developmental delay or intellectual disability, muscular hypotonia, dysmorphic facial features, sparse scalp hair, but otherwise hirsutism and fifth digit nail or distal phalanx hypoplasia or aplasia. Coffin-Siris syndrome is caused by pathogenic variants in 12 different genes including <i>SMARCB1</i> and <i>ARID1A</i>. Pathogenic <i>SMARCB1</i> gene variants cause Coffin-Siris syndrome 3 whereas pathogenic <i>ARID1A</i> gene variants cause Coffin-Siris syndrome 2. Here, we present two prenatal Coffin-Siris syndrome cases with autosomal dominant pathogenic variants: <i>SMARCB1</i> gene c.1066_1067del, p.(Leu356AspfsTer4) variant, and a novel <i>ARID1A</i> gene c.1920+3_1920+6del variant. The prenatal phenotype in Coffin-Siris syndrome has been rarely described. This article widens the phenotypic spectrum of prenatal Coffin-Siris syndrome with severely hypoplastic right ventricle with VSD and truncus arteriosus type III, persisting left superior and inferior caval vein, bilateral olfactory nerve aplasia, and hypoplastic thymus. A detailed clinical description of the patients with ultrasound, MRI, and <i>post mortem</i> pictures of the affected fetuses showing the wide phenotypic spectrum of the disease is presented.
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.
