DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Rubinstein-Taybi syndrome — screening already-approved drugs against its 3-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleRubinstein-Taybi syndrome maps to a 3-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 rubinstein-taybi 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
CREB binding lysine acetyltransferase (CREBBP) — CREBBP 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 1vudrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 9H0K · 1.75 Å · ligand propionyl Coenzyme A (1VU). Experimental structure, not a prediction.
What the evidence adds up to
Rubinstein-Taybi syndrome is a rare congenital neurodevelopmental disorder with a heterogeneous clinical presentation and no consensus list of diagnostic criteria. Molecular testing confirms the diagnosis in approximately 55 to 78% of cases. The known genetic causes are mutations in two functionally related genes, CREBBP and EP300, but no clear genotype-phenotype correlation has been established. Two case reports describe patients with typical facial features, broad thumbs and big toes, intellectual disability, and postnatal growth retardation; one carried a previously known pathological CREBBP mutation (c.3779+1G>A) and the other a novel frameshift insertion (c.5052_c.5053insT) predicted to be pathological.
Therapy for Rubinstein-Taybi syndrome is currently only symptomatic. Standardised guidelines for paediatric management exist, but no disease-modifying treatment has been reported in these abstracts. One 2017 study generated and differentiated disease-specific neuronal cells from patient skin cells and performed a drug screen to find potential therapeutics to reduce symptoms in developmental disorders, but no drug candidates, results, or outcomes from that screen are described in the abstract.
No clinical trial data, response rates, survival figures, or efficacy results for any drug in Rubinstein-Taybi syndrome appear in these abstracts. The literature reviewed here consists of a general review, two case reports, and a modelling study that mentions a drug screen without reporting any findings. What is still missing is any completed or ongoing clinical trial of a pharmacological intervention, a validated animal model that has been used to test a specific compound, and any patient stratification strategy that might identify subgroups responsive to a particular treatment.
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 · 69 citations · open access
Ultra-Rare Syndromes: The Example of Rubinstein–Taybi Syndrome
AbstractRubinstein-Taybi syndrome (RSTS) is a rare, congenital, plurimalformative, and neurodevelopmental disorder. Clinical diagnosis can be complicated by the heterogeneous clinical presentation and the lack of a consensus list of diagnostic criteria, and it is confirmed by molecular tests in approximately 55 to 78% of cases. The etiology is partially known with mutations in two functionally related genes: CREBBP and EP300. Notwithstanding the knowledge on clinical, genetic, and allelic heterogeneity, no clear genotype-phenotype correlation has yet been established. Standardized guidelines for the management of pediatric patients are available and therapy for RSTS patients is currently only symptomatic. In this article, several clinic and genetic aspects of RSTS are critically reviewed.
International Journal of Contemporary Pediatrics · 2022 · 1 citations · open access
Rubinstein–Taybi syndrome: a case report
AbstractRubinstein Taybi syndrome (RTS) is a rare genetic condition caused by a mutation or deletion in the CREBBP and/or EP300 gene located on chromosome 16. It is characterized by short stature, moderate to severe learning difficulties, distinctive facial features and broad thumbs and toes. It occurs in estimated 1 in 1,25000 to 3,00000 births. Diagnosis mainly depends upon the presence of distinctive features, abnormal facies, abnormalities of limbs. These patients are also at increased risk of developing meningioma, other brain tumours and leukaemia, thus early diagnosis and recognition of malignancy can aid in successful life-saving interventions.
[Clinical and genetic analysis of two cases with Rubinstein-Taybi syndrome].
AbstractOBJECTIVE: To summarize the clinical characteristics and identify gene mutations of 2 probands with Rubinstein-Taybi syndrome (RSTS). METHODS: Clinical characteristics of 2 probands with Rubinstein-Taybi syndrome were summarized. Genomic DNA was extracted from peripheral blood samples from the patients and their parents. Genomic DNA was subjected to whole exome next generation sequencing. Suspected variants were confirmed by Sanger sequencing. RESULTS: The two patients were characterized by typical facial features, broad thumbs and big toes, intellectual disability, and postnatal growth retardation. Two variants of the CREBBP gene, namely c.3779+1G>A and c.5052_c.5053insT, were respectively identified in the 2 patients. Among these, c.3779+1G>A was a previously known pathological mutation, while c.5052_c.5053insT was unreported previously. Both variants were predicted to be pathological. CONCLUSION: Two cases of Rubinstein-Taybi syndrome were diagnosed, which facilitated the diagnosis and genetic counselling.
Modelling Epigenetic Dysregulation in Rubinstein-Taybi Syndrome
AbstractRubinstein-Taybi Syndrome (RTS) is a rare congenital disease, caused by mutations in at least in two known proteins that play important roles in cellular processes. However, with Next Generation Sequencing I tried to identify additional genes involved in the onset of RTS. I generated and differentiated disease specific neuronal cells from skin cells of these patients, and performed a drug screen to find potential therapeutics to reduce symptoms seen in cases with developmental disorders.
Neuromuscular Diseases · 2023 · 0 citations · open access
Molecular-genetic basis of Rubinstein–Taybi syndrome
AbstractRubinstein–Taybi syndrome is a multisystem pathology characterized by mental retardation and delayed physical development in combination with a set of phenotypic features, which make up a recognizable pattern of the disease. This review of the literature highlights the molecular‑genetic basis and the presumed pathogenesis of the Rubinstein–Taybi syndrome, considers questions of geno‑phenotypic correlations and differential diagnosis in the group of pathologies called chromatinopathies.
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.
