DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Noonan syndrome 10 — 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 10 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 10 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
leucine zipper like post translational regulator 1 (LZTR1) — LZTR1 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 gdpdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 9MEZ · 2.8 Å · ligand GUANOSINE-5'-DIPHOSPHATE (GDP). Experimental structure, not a prediction.
What the evidence adds up to
Noonan syndrome is a genetic disorder with an estimated prevalence ranging from 1 in 1000 to 1 in 2500 live births according to one report, while another source gives a figure of 1–2 per 20 000 newborns. The condition is inherited as an autosomal dominant trait or occurs sporadically. The pathogenesis is mainly related to abnormal Ras-MAPK signal pathway, involving more than 16 genes. Missense mutations in the PTPN11 gene cause approximately 50% of cases, and overall mutations are identified in about 70% of patients. Other known causative genes include KRAS, SOS1, and RAF1.
A 2009 study of two siblings with Noonan syndrome found an apparently balanced rearrangement of chromosome 12 that segregated with the phenotype, inherited from a phenotypically normal mother who had mosaicism for the derivative chromosome. No mutations of PTPN11, KRAS, SOS1, or RAF1 were detected in these probands. Microarray analysis showed no gains or losses near the breakpoints, and neither the PTPN11 nor KRAS region on chromosome 12 was involved. The authors hypothesised that other candidate genes for Noonan syndrome may be located in the breakpoint regions.
Clinical features include short stature, dysmorphic facies, webbed neck, congenital heart disease or hypertrophic cardiomyopathy, skeletal anomalies, thoracic deformity, cryptorchidism, and developmental delay. Dental features reported include malocclusion, dental caries, and giant cell and cystic lesions. A 2020 Chinese clinical practice guideline summarised the clinical manifestation, pathogenesis, diagnostic criteria, and treatment, noting a lack of experience in diagnosis and treatment of Noonan syndrome in China. A 2025 report from Kyrgyzstan discussed growth hormone therapy as part of treatment and highlighted the importance of early detection for improving prognosis, while noting that data from Central Asia remain limited.
What is still missing is a complete understanding of the genetic causes in the approximately 30% of patients without identified mutations, as well as robust clinical trial data on growth hormone therapy and other interventions, particularly from underrepresented regions. The 2009 finding of a chromosome 12 rearrangement in two siblings has not been followed by identification of a specific causative gene at those breakpoints. No drug treatment is mentioned in any of the provided abstracts.
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.
Dental considerations and management in Noonan Syndrome: A case report with review of literature
AbstractNoonan syndrome is a genetic disorder of autosomal dominance with an estimated prevalence of 1:1000 – 1:2500 live birth. The typical features include short stature, cardiovascular abnormalities and characteristics facial deformity. Dental features reported so far include malocclusion, dental caries, giant cell and cystic lesion. Multidisciplinary treatment plays a key role in the overall quality of life of the patient. This case report describes a 6-year-old boy with Noonan syndrome.
[Clinical practice guidelines for Noonan syndrome].
AbstractNoonan syndrome is a common genetic disease characterized by peculiar face, short stature, congenital heart disease and thoracic deformity. The pathogenesis of Noonan syndrome is mainly related to abnormal Ras-MAPK signal pathway which involves more than 16 genes including (PTPN11, SOS1, RAF1)] and KRAS. At present, there is a lack of experience in the diagnosis and treatment of Noonan syndrome in China. This guideline has summarized the clinical manifestation, pathogenesis, diagnostic criteria and treatment for Noonan syndrome, with an aim to improve the diagnostic level and clinical management of patients with this syndrome.
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.
Encyclopedia of Life Sciences · 2006 · 2 citations
Noonan Syndrome
AbstractAbstract Noonan syndrome is a genetic disorder inherited as an autosomal trait or occurring sporadically, characterized by short stature, dysmorphic facies, webbed neck, congenital heart disease or hypertrophic cardiomyopathy, skeletal anomalies, cryptorchidism and developmental delay. Missense mutations in the PTPN11 gene, encoding the protein tyrosine phosphatase SHP‐2, cause approximately 50% of cases.
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.
