Somatic Mutations can Arise in Every Cell, Tissue and Organ

A single cell divides itself to 37trillion cells during whole life time. Human genome is consisted of about 3 billion sequences and because of DNA synthesis enzyme imperfection in cells, 0.1~3 mutations arise when cell division.

Brain is not exceptional part and the somatic mutation also arises in neural stem cell same as in the other organs.

New Paradigm of Brain Somatic Mutations

With this new concept of brain somatic mutations (or mosaicism), SoVarGen aims to develop the breakthrough therapy for malignant neurological disorders. We focus on genetically and molecularly validated targets in patients’ brain tissues.

Variation of Fundamental Approach to Developing Brain Disease Therapeutics

When the conventional animal models for new drug development are being made, removing certain genes and making disorders to brain is common way to discover the target for cure. However most of this way of approach to epilepsy, autism, Alzheimer’s disease is failed.

Professor Lee regards that this is not the accurate and appropriate way of understand patient’s disease. The exact target can be discovered when we exactly understand what happened to the brain that is malfunctioning. On the contrary to conventional approach, SoVarGen discovers the exact target from the patient’s tissues first and understand the biological Mechanism of Action.

FCD, Focal Cortical Dysplasia

FCD is the first target indication that SoVarGen focuses. It is the most common intractable childhood epilepsy subjected to epilepsy surgery. FCD accounts for 25% of focal epilepsy and even after epilepsy surgery, up to 40% of FCD patients continue to show epileptic seizures. If the proper treatment is not performed during brain development stage, it leads to the permanent mental retardation. Furthermore the exact target and mechanism underlying FCD is not yet discovered so there is very high level of unmet needs.

SoVarGen hypothesized that focal epilepsy is also able to be explained with somatic mutation. We have collected brain tissues of patients who got epilepsy surgery (by co-working with Severance Hospital) and by examine these tissues with our deep sequencing technology, peculiar brain somatic mutation has been discovered. (Mutation of mTOR, TSC 1/2 arises and it leads to the signal transferring overactivated.)

Patented Mouse Model

We set up the special mouse model that has the same genetical mutation in focal brain area during brain development stage and it shows the same pattern and pathology with actual FCD patients.

The important thing is that those mutations commonly activates AMP kinase and with the conventional mTOR inhibitors (which also have BBB penetration capability) we have tested its efficacy in our mouse model and finds out that it completely stops the epileptic seizure.

SoVarGen expended this concept to the other neurological indications and based on this approach, we aim to be a world best neuroscience company.

Strong NGS Tech

SoVarGen have exclusively developed detection technology of low-level somatic mutations in neurological disorders. It will accelerate development of novel therapeutics targeting brain somatic mutations based on drug-repositioning and antisense oligonucleotide.

Based on 1) Novel target discovery,  2) Patented animal model,  3) Global network,
SoVarGen is dedicated to develop intractable brain disorders with High Unmet Needs
SoVarGen provides genomic test of low-level somatic mutations in epileptic disorders.
Detecting the low-level of brain somatic mutations as genetic causes up to 40 % of childhood intractable epilepsy
Giving doctors and patients powerful and actionable insights for navigating drug-resistant epilepsy
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Phone : +82–70–5222-2770
Email : sovargen@sovargen.com