Amyotrophic lateral sclerosis (ALS) is a complex genetic disease. Leveraging our pioneering efforts in ALS research, we stand at the forefront of developing cutting-edge diagnostic tools to enhance the effective management of ALS. As your trusted partner in ALS diagnostic research, we provide unparalleled support to meet your research needs.
Overview of Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is a devastating neurodegenerative disorder that affects the nerve cells in the brain and spinal cord, leading to progressive muscle weakness, paralysis, and ultimately, respiratory failure. ALS is considered a rare disease, affecting an estimated 5,000 individuals in the United States annually.
Pathogenesis of ALS
Mutations in genes such as C9orf72, SOD1, TARDBP, and FUS have been implicated in both familial and sporadic forms of ALS. These genetic abnormalities disrupt normal cellular functions, leading to neuronal degeneration and impaired communication between motor neurons and muscles.
Fig. 1 The pathogenesis of amyotrophic lateral sclerosis (ALS). (Péladeau C, Sandhu J K., 2021)
Diagnostic Biomarkers for Amyotrophic Lateral Sclerosis
Due to the complex pathophysiology and lack of definitive diagnostic tests for amyotrophic lateral sclerosis (ALS), diagnosis poses significant challenges. However, several promising biomarkers have been identified through research, potentially enhancing the accuracy and timeliness of ALS diagnosis.
Neurofilament Light Chain (NfL)
NfL is a structural protein found in neuronal axons. Elevated levels of NfL in the blood may indicate ongoing neurodegeneration, making it a valuable tool for diagnosing ALS and monitoring disease activity.
MicroRNAs
MicroRNAs (miRNAs) are small non-coding RNA molecules that regulate gene expression. Individuals with ALS exhibit specific miRNA dysregulation, and analyzing the expression patterns of miRNAs in blood can provide valuable information for diagnosing and monitoring ALS.
IVD Development for Amyotrophic Lateral Sclerosis
In vitro diagnostics (IVD) are essential for early identification and timely intervention of amyotrophic lateral sclerosis (ALS). The development of in vitro diagnostics for ALS involves identifying reliable biomarkers and creating innovative genetic testing tools to help detect and monitor the disease.
Biomarker Analysis
Biomarkers such as neurofilament light chain (NfL) and microRNAs hold promise as diagnostic indicators for ALS. By combining laboratory techniques like ELISA and Western Blotting, IVD kits targeting specific ALS biomarkers can be developed to enhance the effective management of ALS.
Genetic Testing
Targeted genetic testing for mutations in genes such as SOD1, C9orf72, and FUS can help identify individuals at risk of developing ALS and guide personalized therapeutic strategies. Molecular diagnostic technologies such as next-generation sequencing (NGS) and MLPA can be used for genetic testing of ALS.
Our Services
Our company stands as a leader in diagnostic development services for amyotrophic lateral sclerosis (ALS), offering a comprehensive range of IVD solutions to address the complex diagnostic needs. Our expertise lies in designing gene or metabolite biomarker detection reagents/kits specifically for ALS to facilitate early identification and accurate diagnosis of this rare genetic disease. Complemented by advanced molecular diagnostic equipment, we strive to streamline and automate the diagnostic process for enhanced efficiency.
IVD Product Development Services
Optional IVD Products
- Gene Testing Kit (C9orf72, SOD1, TARDBP, and FUS)
- Neurofilament Light Chain (NfL) Level Test Kit
- MicroRNAs Test Kit
- Primers and Probes
- DNA Extraction and PCR Reagents
- And More
Our point-of-care testing (POCT) development service is dedicated to creating fast and user-friendly diagnostic tests for amyotrophic lateral sclerosis (ALS), which help in making quick decisions and undertaking therapeutic interventions. Our companion diagnostic development service aims to guide therapeutic decisions based on individual characteristics, enabling 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
- Péladeau C, Sandhu J K. Aberrant NLRP3 inflammasome activation ignites the fire of inflammation in neuromuscular diseases[J]. International Journal of Molecular Sciences, 2021, 22(11): 6068.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
