DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Noonan 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 moduleNoonan 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 noonan 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
muscle RAS oncogene homolog (MRAS) — MRAS 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 gcpdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 7SD0 · 2.95 Å · ligand PHOSPHOMETHYLPHOSPHONIC ACID GUANYLATE ESTER (GCP). Experimental structure, not a prediction.
What the evidence adds up to
Noonan syndrome is an autosomal dominant disorder of the RAS-MAPK signalling pathway, with a worldwide prevalence estimated at 1–2 per 20,000 newborns. Causative genes include PTPN11, KRAS, SOS1, and RAF1, but mutations in these known genes are identified in only about 70% of patients, leaving the genetic cause unexplained in roughly 30% of cases. A 2009 study of two siblings with Noonan syndrome and a balanced insertion on chromosome 12 found no mutations in PTPN11, KRAS, SOS1, or RAF1, and no gains or losses near the breakpoints; the authors hypothesised that other candidate genes in those breakpoint regions might cause the phenotype. A 2022 case report describes a male child with short stature, congenital heart disease, and distinctive facial features who had a PTPN11 mutation, consistent with the most common known genetic cause.
A 2025 overview from Kyrgyzstan notes that data from Central Asia remain limited and emphasises the importance of early detection for improving prognosis, mentioning growth hormone therapy as part of current management. A 2020 review discusses the molecular genetic causes and clinical manifestations of Noonan syndrome and Noonan-like diseases, but provides no new trial data or quantitative outcomes. No drug treatment for the underlying condition is tested or reported in any of these abstracts; growth hormone therapy is mentioned only as a clinical approach, not as a repurposed drug.
What is still missing: large-scale genetic studies to identify the remaining causative genes in mutation-negative patients, prospective trials of any drug targeting the RAS-MAPK pathway in Noonan syndrome, and systematic patient stratification by genotype to enable personalised treatment approaches. Funding for such trials and for genetic screening in understudied populations like Central Asia remains absent.
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 Part A · 2009 · 8 citations · open access
Molecular characterization of a balanced rearrangement of chromosome 12 in two siblings with Noonan syndrome
AbstractThe etiology of Noonan syndrome (NS) has been greatly elucidated with the discovery of the disease causative genes PTPN11, KRAS, SOS1, and RAF1, all involved in the RAS/MAPK-signaling cascade. Given that overall mutations are identified in about 70% of patients, identification of other NS associated genes remains a high priority to fully understand the etiopathogenesis of the condition. We report two affected siblings with an apparently balanced rearrangement of chromosome 12 ins(12)(q12p11.2p12.3) which segregates with the Noonan phenotype. The rearrangement was inherited from the phenotypically normal mother who had mosaicism for the derivative chromosome 12. There were no mutations of PTPN11, KRAS, SOS1, or RAF1 genes detected in the probands. Using fluorescence in situ hybridization analysis we identified the three breakpoints involved at 12p12.3, 12p11.2, and 12q12. By microarray analysis, there were no gains or losses near the breakpoints. Neither, the PTPN11 or KRAS region on chromosome 12 was involved in the rearrangement. We hypothesize that other NS candidate gene(s) may be located in the breakpoint regions of chromosome 12 causing the Noonan phenotype in both of these children.
Clinical and Genetic Characteristics of Noonan Syndrome and Noonan-like Diseases
AbstractNoonan syndrome (NS) is a group of inherited autosomal dominant diseases characterized by a disturbance of the RAS-MAPK signaling pathway and leading to various clinical manifestations. The prevalence in the world is estimated at 1–2 per 20 000 newborns. The review discusses the molecular genetic causes of the disease, the characteristics of the clinical manifestations of the disease, and the methods of molecular genetic diagnosis.
Journal of Clinical Images and Medical Case Reports · 2022 · 0 citations · open access
A case of PTPN11 mutation-related Noonan syndrome
AbstractNoonan Syndrome (NS) is an autosomal dominant disorder in which parents with Noonan syndrome have a 50percent chance of passing the mutation to their children, most commonly due to a mutation in the PTPN11 gene. In a clinical case, we identified a male child who showed clinical features such as short stature, congenital heart disease and a peculiar facial appearance, strongly suspecting Noonan syndrome. The purpose of this article is to report the presentation of a case of Noonan syndrome.
Zenodo (CERN European Organization for Nuclear Research) · 2025 · 0 citations · open access
Синдром Нунан: клинический случай, значение диагностики в Кыргызстане
AbstractNoonan syndrome is a relatively common genetic disorder characterized by distinctive facial features, congenital heart defects, short stature, and developmental anomalies. Despite the growing number of reported cases worldwide, data from Central Asia remain limited. This article presents an overview of Noonan syndrome with a focus on current approaches to diagnosis and treatment, including the role of growth hormone therapy. We also provide insights into the occurrence of the syndrome in Kyrgyzstan, discuss possible complications, and highlight the importance of early detection for improving prognosis.
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.
