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Noonan Syndrome (NS)

Individuals afflicted with Noonan syndrome (NS) often exhibit distinct facial features, short stature, cardiac abnormalities, coagulation issues, skeletal deformities, and other associated symptoms. Our company is dedicated to advancing research and innovation in the field of rare diseases that can help you move from NS therapy development to therapy commercialization.

Introduction to Noonan Syndrome (NS)

Noonan syndrome (NS) is a complex genetic disorder characterized by a wide array of physical manifestations impacting various systems within the body. The estimated incidence of NS ranges from 1:1000 to 1:2500. The pathogenesis of NS revolves around disruptions in the RAS/MAPK signaling pathway, a crucial mechanism responsible for regulating cell division, growth, differentiation, and migration. Genes such as PTPN11, SOS1, RAF1, and RIT1 play pivotal roles in this signaling cascade, and mutations in these genes commonly lead to the development of NS. These mutations often result in prolonged activation of the proteins encoded by these genes, causing dysregulation in the RAS/MAPK pathway.

The RAS–MAPK signaling pathway showing mutations that may lead to diseases such as Noonan syndrome.Fig.1 The RAS–MAPK signaling pathway showing mutations that may lead to diseases such as Noonan syndrome. (Zenker, Martin, et al., 2022)

Diagnostics Development of NS

The diagnosis of NS is primarily established through molecular genetic testing, specifically identifying heterozygous or biallelic pathogenic variants in genes associated with NS, such as PTPN11 or LZTR1. In cases where the phenotype strongly suggests NS, a multigene panel test is often used to pinpoint the genetic cause effectively, minimizing the identification of variants of uncertain significance. Approximately 50% of individuals with NS carry a pathogenic missense variant in the PTPN11 gene. If the diagnosis remains uncertain after initial testing, more advanced genomic approaches, such as exome sequencing, may be employed to identify additional genetic factors contributing to the disorder.

Therapeutics Development of NS

While there is no cure for NS, ongoing research into potential therapeutics aims to address specific symptoms and complications associated with the condition. The MEK inhibitor trametinib has shown promise in treating infants with NS-related heart conditions, leading to the reversal of myocardial hypertrophy and improved somatic growth. Additionally, the use of trametinib in individuals with SOS1-related NS demonstrated positive outcomes in resolving lymphangiectasia and chylothorax.

Our Services

Our company is committed to advancing research in the field of NS and contributing to the development of innovative therapies. Trust us to be your partner in advancing therapies for the management of NS.

Diagnostic Development Services

Our company is at the forefront of diagnostic development services, particularly focusing on comprehensive genome sequencing for NS. With a commitment to precision and rapid results, we can assist in developing cutting-edge diagnostic tests for NS, including point-of-care solutions for efficient and accurate identification of the condition.

Therapeutic Development Services

At our company, we offer an extensive array of services for therapeutic development in the realm of NS. From the creation of small molecule drug, cell therapy , gene therapy, therapeutic antibody, therapeutic peptide, and therapeutic protein, we provide comprehensive support for the development of novel therapies. Our expertise extends to conducting thorough preclinical trials to ensure the efficacy and safety of potential therapeutics for NS.

NS Animal Model Services

Given the importance of animal models in NS research, our company offers comprehensive services for providing NS animal models including mice, flies, and zebrafish. We specialize in generating and maintaining genetically modified animal models that accurately replicate the characteristics and features of NS. Through our state-of-the-art facilities and expertise in genetic engineering, we can support research institutions and pharmaceutical companies in conducting preclinical studies, drug discovery, and therapeutic development for NS.

If you are interested in our services or require further information, please contact us, and our team will be happy to assist you.


  • Zenker, Martin, et al. "Noonan syndrome: improving recognition and diagnosis." Archives of disease in childhood (2022).

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.

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