Dravet Syndrome (DS)
Our company facilitates personalized medicine through the management of preclinical services and insights into the pathogenesis and therapeutics of Dravet syndrome (DS). This accelerates the translation of research findings into your clinical applications.
Introduction to Dravet Syndrome (DS)
With an incidence rate of approximately 1 in 15,700, Dravet syndrome (DS) is classified as a rare disease. It forms a part of early-onset encephalopathy and comprises about 1.4% of all registered incidents of epilepsy in children. This complex and debilitating condition tends to emerge from infancy with recurrent seizures alongside a delay in developmental milestones and intellectual impairment as children age.
Pathogenesis of DS
Over 80% of Dravet syndrome cases stem from mutations within the voltage gated sodium channel SCN1A, mapped to chromosome 2q24.3. The gene SCN1A encodes the alpha polypeptide subunit of the NaV1.1 ion channel. The majority of these mutations, inclusive of truncating and missense mutations, typically result in haploinsufficiency or loss of function. Such modifications that directly impose loss of function on NaV1.1 are ultimately contributory towards the pore region in conjunction with the haploinsufficiency and those causing Dravet syndrome.
The borderline affliction termed Dravet syndrome is attributed to various atypical presentative forms of other encephalopathies wherein several other genes are also linked SCN1B, GABRG2, GABRA1, STXBP1, HCN1, CHD2, and PCDH19.
Fig.1 Scn8a is a genetic modifier of Scn1a-linked DS. (Isom, Lori L., et al. 2021)Therapeutics Development of DS
- Targets of DS Therapy Development
The fulcrum of developing therapies for DS rests on SCN1A locus, given its mutations account for the vile majority of DS cases. Additionally, further research has uncovered possible new targets such as sodium channel SCN1B, sodium channel Nav1.6 SCN8A, which may also modify the phenotypes and serve as targets for further interventions. - Types of DS Therapy Development
The scope of developing therapies for DS incorporates both genetic and non-genetic approaches for the treatment of the disorder.
- Gene therapy using adeno-associated viral vectors (AAV) effectively expresses therapeutic genes in the CNS, AAV9 mediated expression of sodium channel beta 1 subunit is one such example.
- Non-viral genetic therapies, such as antisense oligonucleotides (ASOs) and RNA-based technologies, offer targeted strategies for modulating gene expression and protein levels.
Our Services
Our company focuses on leveraging innovative genetic technologies, including viral vectors and gene editing tools, to target the root causes of DS and provide preclinical research services. Our experienced team is well-versed in developing various therapeutic modalities including small molecule drug, cell therapy , gene therapy, therapeutic antibody, therapeutic peptide, and therapeutic protein specifically for DS.
Focusing on providing preclinical research services for DS, we develop advanced genetic engineering and viral genetics technologies including viral vectors and gene editing tools. With years of experience in research and development, our dedicated experts are actively creating novel drugs for DS such as small molecule drug, cell therapy, gene therapy, therapeutic antibody, therapeutic peptide, and therapeutic protein.
DS Animal Model Services
Our company utilizes advanced animal models of DS to better understand the disease and test potential therapies. We offer Scn1a−/− mouse models and Scn1a+/− mouse models, which accurately replicate key features of DS, including spontaneous seizures, cognitive deficits, and premature mortality. We also provide a full range of animal species to support your pharmacokinetics study and drug safety evaluation.
We focus on overcoming obstacles to effective therapies for pivoting disorders through comprehensive research and multidisciplinary approaches. If you are interested in our services or require further information, please contact us, and our team will be happy to assist you.
Reference
- Isom, Lori L., et al. "Dravet syndrome: novel approaches for the most common genetic epilepsy." Neurotherapeutics 18.3 (2021): 1524-1534.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.