DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Noonan syndrome 6 — 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 6 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 6 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
NRAS proto-oncogene, GTPase (NRAS) — NRAS 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 6ZIO · 1.55 Å · ligand GUANOSINE-5'-DIPHOSPHATE (GDP). Experimental structure, not a prediction.
What the evidence adds up to
Noonan syndrome is an autosomal dominant genetic disorder with an estimated prevalence of 1 in 1000 to 1 in 2500 live births, though one review places the worldwide prevalence at 1–2 per 20 000 newborns. The condition is characterised by short stature, cardiovascular abnormalities, characteristic facial features, thoracic deformity, and developmental anomalies. Dental features reported include malocclusion, dental caries, and giant cell or cystic lesions. The pathogenesis is linked to abnormal RAS-MAPK signalling, involving more than 16 genes including PTPN11, SOS1, RAF1, KRAS, BRAF, NRAS, MAP2K1, RIT1, SOS2, LZTR1, and A2ML1. A 2019 report describes a novel RIT1 mutation that causes deterioration of Noonan syndrome-associated cardiac hypertrophy.
A 2020 Chinese clinical practice guideline summarises the clinical manifestations, pathogenesis, diagnostic criteria, and treatment for Noonan syndrome, noting a lack of experience in diagnosis and treatment in China. A 2020 review discusses molecular genetic causes and methods of molecular genetic diagnosis. A 2015 case report describes a 26-month-old boy diagnosed with Noonan syndrome with sporadic inheritance secondary to advanced paternal age. A 2021 case report describes a 6-year-old boy with the syndrome. A 2025 article from Kyrgyzstan notes that data from Central Asia remain limited and discusses the role of growth hormone therapy.
Multiple case reports and reviews emphasise that multidisciplinary treatment plays a key role in overall quality of life. No controlled trials of any drug for Noonan syndrome are reported in these abstracts. No survival or response rates are given. What is still missing are randomised trials, standardised outcome measures, and patient stratification by specific gene mutation.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
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.
A novel RIT1 mutation causes deterioration of Noonan syndrome-associated cardiac hypertrophy
AbstractNoonan syndrome (NS) is an autosomal dominant inherited condition characterized by unusual facial features, short stature, congenital heart disease, bleeding problems, metabolic and endocrine abnormalities, and other problems [1]. An estimated 1 in 1000–2500 live births are affected by various forms of the disease [2]. Multiple genotype-phenotype analyses have revealed numerous gene mutations (PTPN11, SOS1, RAF1, KRAS, BRAF, NRAS, MAP2K1, RIT1, SOS2, LZTR1, and A2ML1) that result in NS, typically involving hyperactivation of the RAS-MAPK pathway and leading to various developmental disorders.
Journal of Evolution of Medical and Dental Sciences · 2015 · 0 citations · open access
NOONAN SYNDROME: AN EARLY DIAGNOSIS
AbstractNoonan syndrome is a genetic multisystem disorder characterised by facial dysmorphism, learning difficulties, developmental delay, short stature, cardiac defects, bleeding manifestations and lymphatic malformation affecting 1 in 1000-2500 children. This is a case report of a twenty six month old boy diagnosed to have Noonan syndrome with sporadic inheritance secondary to advanced paternal age. Multidisciplinary approach is the key to success in managing these children, who are diagnosed at an early age.
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.
AbstractNoonan syndrome is an autosomal dominant, genetic, multisystem disorder with a prevalence of 1 in 1000-2500 live births. Characteristic features of the condition include distinctive myopathic facial features, hypertelorism, short and broad nose, webbed neck, and low set ears. About 10% of the subjects have auditory defects due to sensorineural hearing loss. The patient also has short stature, chest deformity (superior pectus carinatum and inferior pectus excavatum), widely spaced nipples, and delayed puberty. A rare psychiatric manifestation of somnambulism and somniloquy in a case of Noonan syndrome is reported.
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.
