To better understand the genetic changes that may lead to the development of seizures, EpLink researchers were involved in multiple projects in Phase 2. For example, findings from Dr. Berge Minassian and team show that a change in theSCN1A gene (also known as a ‘genetic mutation’) was linked to the development of Dravet Syndrome, a severe form of epilepsy. SCN1A is a gene that normally functions to help brain cells communicate. Dr. Minassian also identified the genetic mutations that cause LaFora disease and hopes that this data will help in the search for a cure for this severe epilepsy syndrome. In addition, the EpLink Genetics Project team collected and entered data from patients with epileptic encephalopathies, including infantile spasms, into the Brain-CODE database.This data is being analyzed for genetic causes and modifiers of controlled and uncontrolled (e.g. drug-resistant) epilepsy.

Through whole genome sequencing, research by Dr. Danielle Andrade’s lab at Toronto Western Hospital identified a gene associated with SUDEP and found that adults who have a certain type of epilepsy (from a mutation in the PCDH19 gene) are at increased risk of developing schizophrenia. Similar to the functions of SCN1A, the PCDH19 gene tells the brain how to make a protein that is important for brain cell communication.

In a collaboration with OB Pharmaceuticals, Dr. Michael Poulter’s work has provided new potential therapies for the treatment of epilepsy: a medication with known epigenetic activity that can change the genetic code (DNA) and thereby change its function. OB Pharmaceuticals has patented this promising new class of anti-seizure compounds.

In research led by Dr. James Eubanks at the Krembil Research Institute, a mutation believed to cause drug-resistant epilepsy has been engineered into mouse embryonic stem cells. In particular, Dr. Eubanks and team used CRISPR/Cas9, a precise method involving a molecule/enzyme that edits genes and potentially changes their function. Using CRISPR/Cas9, the mutation was converted back to the normal gene sequence. Going into Phase 3, this gene editing strategy will be tested in animal models. It is hoped that research using these gene editing techniques will bring results that show reduced frequency of seizures and will be a potential method of preventing the development of epilepsy.


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