Noonan syndrome (NS) is a rare genetic disease with a complex pathogenesis. To tackle the diagnostic hurdles associated with NS, our company dedicates resources to advanced technologies and expert professionals focused on the advancement of IVD solutions. Our innovative diagnostic kits and equipment will significantly enhance the sensitivity, specificity, and stability of testing.
Introduction to Noonan Syndrome
Noonan syndrome (NS) is a genetic condition marked by a range of physical traits, such as mildly distinct facial features, short stature, congenital heart anomalies, bleeding tendencies, and skeletal abnormalities. NS can be inherited as an autosomal dominant trait or arise from spontaneous mutations. The prevalence is estimated to be around 1 in 1,000 to 1 in 2,500 individuals.
Fig. 1 Pathogenesis of Noonan syndrome (NS). (Bajia D, et al., 2022)
Pathogenesis of Noonan Syndrome
Noonan syndrome (NS) is a genetic disorder with a complex pathogenesis involving dysregulation of the RAS/MAPK cell signaling pathway. This pathway is crucial for various cellular processes, including cell growth, differentiation, and survival.
Genetic Mutations
Mutations in several genes have been associated with Noonan Syndrome, with the most common being genes that encode proteins within the RAS/MAPK pathway, such as PTPN11, SOS1, RAF1, and KRAS.
RAS/MAPK Pathway Dysregulation
Gene mutations can lead to abnormal activation or inhibition of the RAS/MAPK pathway, resulting in various symptoms associated with Noonan syndrome, such as cardiac abnormalities, skeletal anomalies, and facial features.
In Vitro Diagnostic Development for Noonan Syndrome
Currently, there are no commercially available detection kits for Noonan syndrome (NS). Development of effective in vitro diagnostics (IVD) requires a comprehensive approach, including genetic testing and biomarker identification.
Genetic Testing
Utilize advanced genetic sequencing technologies to identify mutations in key genes associated with Noonan syndrome, such as PTPN11, SOS1, RAF1, and KRAS. Whole exome sequencing and targeted gene panel testing can aid in identifying precise genetic anomalies that contribute to the onset of NS.
Biomarker Detection
Some biomarkers can aid in the early detection and monitoring of NS, providing valuable information for diagnosis. For example, RAS/MAPK pathway proteins, such as phosphorylated ERK (pERK) or RAF1, can serve as biomarkers for NS, reflecting the dysregulated cell signaling associated with the disease.
Our Services
At our company, we specialize in the development of IVD solutions tailored for Noonan syndrome (NS). Our unwavering commitment is directed towards the creation of cutting-edge gene detection kits designed to pinpoint mutations within the key genes associated with NS. We are committed to developing advanced diagnostic tools for early detection and progression monitoring of NS by exploring potential biomarkers for NS or its related complications. Through the innovation of complementary diagnostic devices, we aim to facilitate automated diagnosis and effective management of NS.
IVD Product Development Services
Additionally, our services include point-of-care diagnostics and companion diagnostics development tailored for Noonan syndrome (NS). These offerings are instrumental in facilitating swift disease detection and personalized therapies. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
- Bajia D, Bottani E, Derwich K. Effects of noonan syndrome-germline mutations on mitochondria and energy metabolism[J]. Cells, 2022, 11(19): 3099.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
