Biomarker Development Services
Protheragen provides biomarker development services for rare neurodegenerative diseases, covering discovery, validation, and preclinical application phases.
Advancing Biomarker Applications in Rare Neurodegenerative Disease Research
Rare neurodegenerative diseases involve progressive neuronal degeneration that results in severe functional decline. Examples include amyotrophic lateral sclerosis, Huntington's disease, and spinal muscular atrophy. The limited prevalence and biological intricacy of these disorders complicate diagnosis and therapeutic development. Biomarkers—quantifiable biological indicators—are pivotal for addressing these challenges.
Biomarkers enable objective disease detection, progression tracking, and treatment evaluation. Their application improves clinical trial design and informs therapeutic target selection. Protheragen prioritizes methodical biomarker development and validation to strengthen research quality and support the translation of research findings into clinical applications.
Fig1. Biomarkers for neurodegenerative diseases. (Obeid, et al., 2021)Biomarkers for Rare Neurodegenerative Diseases
Rare neurodegenerative diseases involve progressive neuronal degeneration, leading to severe functional decline. Examples include ALS, Huntington's disease, and spinal muscular atrophy. Their rarity and biological complexity complicate diagnosis and therapy development. Biomarkers serve as measurable tools for early detection, progression monitoring, and therapy evaluation. Protheragen focuses on developing validated biomarkers to support research and clinical translation for these conditions.
Table 1. Overview of the biomarkers for rare neurodegenerative diseases.
| Disease Category | Biomarker | Detection Method |
| Tauopathies | Tau protein | CSF analysis |
| CSF Tau levels | CSF analysis | |
| TDP-43 Proteinopathies | TDP-43 protein | CSF analysis |
| CSF TDP-43 levels | CSF analysis | |
| Motor Neuron Diseases | Neurofilament proteins (NFL, pNFH) | CSF analysis |
| TDP-43 protein | CSF analysis | |
| Prion Diseases | 14-3-3 protein | CSF analysis |
| RT-QuIC analysis | RT-QuIC assay | |
| Parkinson's Disease | α-synuclein | CSF analysis |
| LRRK2 gene mutations | Genetic sequencing | |
| PINK1, PARK2, DJ1 gene mutations | Genetic sequencing | |
| Amyotrophic Lateral Sclerosis (ALS) | SOD1 gene mutations | Genetic sequencing |
| C9ORF72 gene mutations | Genetic sequencing | |
| FUS gene mutations | Genetic sequencing | |
| Other Potential Biomarkers | Neuroinflammatory markers (IL-6, TNF-α) | CSF analysis |
| Oxidative stress markers (8-OHdG, MDA) | CSF analysis | |
| Metabolic markers (NfL, GFAP) | Blood analysis |
Our Services
Protheragen supports rare neurodegenerative disease research through biomarker development services spanning discovery, validation, and quantification. These services address the specific challenges of studying rare diseases by integrating scalable workflows and standardized methodologies. Our team provides technical expertise to assist researchers in advancing therapeutic development.
Key Services
Discovery and Validation
We identify novel biomarkers using multi-omics approaches and validate them through standardized protocols to meet sensitivity and specificity requirements.
Preclinical Assay Development
Customized assays are developed and optimized for precise biomarker measurement, ensuring reproducibility across biological matrices.
Biomarker Profiling
Comprehensive profiling services analyze multiple biomarkers simultaneously to generate actionable insights into disease mechanisms.
Additional Services
Stability testing under controlled conditions, targeted assay design, and quantitative analysis pipelines ensure biomarker reliability. These services support research workflows from biomarker discovery to preclinical validation.
Protheragen focuses on methodical biomarker development to address challenges in rare neurodegenerative disease research. Our services spanning discovery to preclinical validation aim to support scientific workflows through technical expertise and established workflows. Collaborative partnerships with researchers help expedite progress toward clinical translation of potential therapies. We are here to support your research needs. For further details or to receive a quotation, please reach out to us.
Why Choose Us?
- Cutting-Edge Technology
We apply genomic profiling and molecular diagnostic methods to improve biomarker detection accuracy and early identification.
- Team Expertise
Our team assists researchers with protocol design and data interpretation, leveraging specialized knowledge in neurodegenerative disease mechanisms.
- Digital Integration
Machine learning algorithms and automated data pipelines are integrated into workflows to accelerate analysis and reduce manual intervention.
- Commitment to Improvement
We continuously refine protocols to align with evolving research standards, ensuring adaptability to emerging scientific and clinical requirements.
FAQs
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Q: What types of samples can be used for biomarker analysis?
A: Our analysis supports biomarker identification and quantification using blood, cerebrospinal fluid (CSF), and tissue specimens.
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Q: How long does it take to develop a preclinical assay?
A: Development timelines range between 4-8 weeks, influenced by biomarker characteristics and assay requirements.
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Q: What technologies do you use for biomarker discovery?
A: Biomarker discovery incorporates next-generation sequencing, proteomic profiling, and mass spectrometry-based validation.
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Q: Can you provide custom biomarker development services?
A: Services are tailored to project needs, covering biomarker discovery, validation, and quantification workflows.
Reference
- Hansson O. Biomarkers for neurodegenerative diseases. Nat Med. 2021;27(6):954-963.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.