Rare & Metabolic Disease related Research Tools
Introduction
Elucidating the pathophysiology of complex rare neurological diseases has been fundamentally constrained by the limited availability of physiologically relevant human models, as non-human systems often fail to recapitulate the nuanced intricacies of human-specific pathology. Induced pluripotent stem cell (iPSC) technology provides a transformative solution.
Creative Biolabs offers a comprehensive suite of highly-characterized neural lineages derived from patient-specific iPSCs, frequently accompanied by their CRISPR/Cas9-edited isogenic counterparts. These advanced biological systems are engineered to permit granular investigation into fundamental pathogenic cascades, enabling the study of mechanisms from proteinopathies and metabolic dysregulation to aberrant intercellular signaling and downstream cellular stress responses.
Contact one of our specialists to accelerate your research and therapeutic development with models that truly reflect the disease state. We are ready to help you explore our catalog or discuss a custom model for your specific research needs.
For a comprehensive overview of our offerings, please browse the complete Product List.
Main Disease Model Types
Our portfolio is continuously expanding. We currently offer specialized neural cell models for the following conditions, with custom development available for others.
| Types | Description |
|---|---|
| Fabry Disease Cell Models | Investigate the neurological manifestations of this lysosomal storage disorder, including globotriaosylceramide (Gb3) accumulation and its impact on dorsal root ganglia neurons. |
| Leukodystrophies Cell Models | A crucial tool for studying demyelination and white matter degeneration. Our models, including for Metachromatic Leukodystrophy (MLD), allow for the detailed analysis of oligodendrocyte and astrocyte pathology. |
| Pompe Disease Cell Models | Model the neurological impact of glycogen accumulation in motor neurons and other CNS cells, providing a platform to test enzyme replacement and gene therapies. |
| Tuberous Sclerosis Complex (TSC) Cell Models | Featuring mutations in TSC1 or TSC2, these models are essential for studying the resulting mTOR pathway hyperactivity, neuronal hyperexcitability, and hamartoma formation. |
| Alexander Disease Cell Models | Patient-derived astrocytes expressing mutant GFAP that exhibit the hallmark pathology of Rosenthal fiber-like inclusions and cellular stress responses, ideal for investigating the core mechanisms of this devastating astrocytopathy. |
Advantages
Choosing the right cellular model is the foundation of successful preclinical research. Our commitment to scientific excellence ensures that our neural cell products provide the accuracy, reproducibility, and clinical relevance your project demands.
Unparalleled Physiological Relevance
Our models are primarily derived from patient-specific iPSCs or engineered with disease-causing mutations using CRISPR/Cas9 technology. This ensures they express the relevant genetic background and faithfully replicate key pathological hallmarks, from toxic metabolite accumulation to cellular morphological changes.
Rigorous Quality Control and Validation
Each cell line undergoes stringent quality control, verifying genetic mutations and confirming iPSC pluripotency. Differentiated neural populations are then fully characterized for key markers and function using immunocytochemistry and other applicable assays.
Diverse Portfolio of Neural Lineages
Neurological diseases are not monolithic; they affect distinct cell populations. We offer a wide array of differentiated neural cells, including glutamatergic and GABAergic neurons, motor neurons, dorsal root ganglia (DRG) neurons, astrocytes, and oligodendrocytes, allowing you to investigate the specific cell types implicated in your disease of interest.
Accelerate Your Research Timelines
Our ready-to-use, cryopreserved neural cells eliminate the time-consuming and technically demanding process of iPSC differentiation. By providing fully characterized cells, we enable your team to focus immediately on high-value experimental work, significantly shortening the path from hypothesis to data.
Custom Services & Expert Consultation
Your research is unique. If our existing portfolio doesn't match your exact needs, our team of Ph.D.-level scientists can partner with you to develop custom models, including specific gene knock-ins, knock-outs, or the creation of isogenic control lines, which are the gold standard for attributing phenotypes to a specific mutation.
Applications
Our rare and metabolic disease neural models are engineered to serve a wide array of research and preclinical applications, providing critical human-specific data to accelerate therapeutic programs.
| Applications | Description |
|---|---|
| Pathophysiological Modeling | Elucidate fundamental disease mechanisms linking genotype to phenotype. Investigate human-specific proteinopathies, lysosomal storage dysfunction, and aberrant signaling pathways in a highly relevant cellular context to reveal the molecular cascade of the disease. |
| High-Throughput Screening (HTS) & Drug Discovery | Screen large libraries of small molecules, ASOs, and other biologics in a scalable format. Identify and validate novel lead compounds by quantifying the reversal of specific disease phenotypes, accelerating your drug discovery pipeline. |
| Therapeutic Efficacy & Proof-of-Concept Studies | Validate novel modalities like gene therapy, ERTs, and RNA therapeutics in a human-specific context. Assess functional rescue at the cellular level to establish robust proof-of-concept before advancing to animal models. |
| Predictive Toxicology & Safety Assessment | De-risk your development pipeline by identifying potential neurotoxic liabilities early. Our human neural models provide a sensitive substrate to assess lead candidate safety, generating data more predictive than non-human systems. |
| Biomarker Discovery | Identify and validate novel molecular biomarkers using patient-derived models. Analyze the cellular transcriptome, proteome, or secretome to discover unique signatures of disease or therapeutic response for diagnostic or pharmacodynamic applications. |
Fig.1 Predominant neuroimmunometabolic homeostasis in the healthy brain and its disruption in neurodegenerative conditions.1
FAQs
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What starting materials do I need to provide for a custom cell model?
For most custom projects, you only need to provide the genetic information (gene and specific mutation) and your desired cell type. We handle the sourcing of parental lines and all subsequent engineering and differentiation steps. -
What kind of technical support do you offer after purchase?
We provide comprehensive technical support to ensure your success. Your purchase includes detailed protocols for thawing, culturing, and assaying the cells. Our team of experienced scientists is available to help troubleshoot and provide guidance for your experiments. -
Do you offer bulk or discounted pricing?
Yes, we offer custom pricing for bulk orders or for establishing long-term supply agreements. Please contact our sales department to discuss your needs. -
What if I have trouble with the cells?
We stand by our products. Our technical support team, staffed by the same scientists who develop our products, is available to help you troubleshoot any issues. -
Can you help me choose the right model for my experiment?
Of course. Our scientific team is happy to schedule a consultation to understand your research goals and recommend the most appropriate product.
The right model is the foundation of discovery. At Creative Biolabs, we provide more than just cells; we provide validated biological systems that empower you to ask deeper questions and get more meaningful answers. Whether you are validating a new therapeutic target, screening a compound library, or elucidating a fundamental disease pathway, our neural cell products are the key to unlocking your next breakthrough. Contact us to learn how our expertise can accelerate your research in rare and metabolic neurological disease.
Related Product Sections
Explore our other research tool categories for Rare & Metabolic Diseases via the links below:
Reference
- Mitra, Swarup, et al. "Neuroimmunometabolism: A new pathological nexus underlying neurodegenerative disorders." Journal of Neuroscience 42.10 (2022): 1888-1907. DOI: 10.1523/JNEUROSCI.0998-21.2022. Use under Open Access license CC BY 4.0, without modification.