DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Noonan syndrome 9 — 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 9 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 9 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
SOS Ras/Rho guanine nucleotide exchange factor 2 (SOS2) — SOS2 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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helix sheet 1r,2sdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 8T5M · 1.79 Å · ligand 4-[(1R,2S)-1-hydroxy-2-{[2-(4-hydroxyphenyl)ethyl]amino}propyl]phenol (YIF). Experimental structure, not a prediction.
What the evidence adds up to
Two siblings with Noonan syndrome carried a balanced insertion of chromosome 12, ins(12)(q12p11.2p12.3), inherited from their phenotypically normal mother who had mosaicism for the derivative chromosome. No mutations were found in PTPN11, KRAS, SOS1, or RAF1. Microarray analysis showed no gains or losses near the three breakpoints at 12p12.3, 12p11.2, and 12q12, and neither the PTPN11 nor KRAS region on chromosome 12 was involved. The authors hypothesised that other Noonan candidate genes may lie in the breakpoint regions, but no specific gene was identified.
A 6-year-old boy with Noonan syndrome was described in a dental case report that noted malocclusion, dental caries, and giant cell or cystic lesions as reported dental features. Multidisciplinary treatment was emphasised for overall quality of life. In a separate audiological report, a 5-year-old Malay boy with Noonan syndrome who produced only a few meaningful words had bilateral mild conductive hearing loss at low frequencies. Auditory brainstem response recordings showed normal absolute latency of wave V but prolonged interpeak latencies of waves I-V, I-II, and II-III, while the interpeak latency of waves III-V was abnormally shorter. The authors noted that no publication on auditory electrophysiological tests in Noonan syndrome had existed before this report.
A 2025 overview from Kyrgyzstan stated that Noonan syndrome is a relatively common genetic disorder with distinctive facial features, congenital heart defects, short stature, and developmental anomalies. The article discussed growth hormone therapy as part of current treatment approaches and highlighted the importance of early detection for improving prognosis. Data from Central Asia remain limited.
What is still missing is identification of the specific gene or genes disrupted by the chromosome 12 rearrangement, systematic audiological and electrophysiological evaluation protocols for Noonan syndrome, and larger epidemiological studies from underrepresented regions such as Central Asia. No trial has tested any drug for Noonan syndrome in these abstracts, and no patient stratification strategy has been validated.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Pediatric Hematology and Oncology · 1995 · 26 citations
Noonan's Syndrome in Association with Acute Leukemia
AbstractNoonan's syndrome (NS) is a syndrome with multiple congenital anomalies, characterized by craniofacial anomalies, congenital heart disease, skeletal and genital abnormalities, and mild mental retardation. Chromosomal abnormalities have been found in only a few cases. The combination of NS and acute leukemia has been reported in only three cases. Two additional cases are described here.
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.
Function and Disability Journal · 2018 · 0 citations · open access
The Results of ABR in a Child with Noonan Syndrome: Necessity of Renewing the Evaluation Protocols of Syndromes
Abstract55 years after discovering NS, there was not even one publication regarding the use of auditory electrophysiological tests for analyzing the central auditory nervous system in NS patients. This is an attempt to attract attention of scientists and clinicians in using AEPs for evaluating the function of CANS in NS. Readers can find a report about the results of audiological tests and auditory brainstem response (ABR) findings in a 5-year old Malay boy with NS. It should be noted that he could only produce a few meaningful words. The results of audiological tests showed bilateral mild conductive hearing loss at low frequencies. ABR recordings showed good waveform morphology but the results were atypical. That is, absolute latency of wave V was normal but interpeak latencies of waves I-V, I-II, II-III were prolonged. Conversely, interpeak latency of waves III-V was abnormally shorter.
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.
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.
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