Category: Research Grants

Dr. Gabriella Horvath, MD, PhD, FRCPC, FCCMG
– B.C. Children’s Hospital, Vancouver, British Columbia
– 2018

Dr. Gabriella Horvath

Dr. Horvath and her team is awarded $29,000.00 by Dravet Canada for their project entitled “Intranneuronal Ca2+ (calcium) signaling in Dravet Syndrome”.

Dr. Horvath will be studying the movement of calcium molecules in neuronal cells from patients with Dravet Syndrome. This will help understand how the abnormal sodium channels in Dravet Syndrome affects the movement of other molecules inside the nerve cells, which might contribute to the severity of the seizures. It will lead to a better understanding and better medication choices that alter the calcium and sodium levels in the brain.

Dr. David Dyment, DPhil, MD, FRCPC
– CHEO Research Institute, University of Ottawa, Ontario
– 2018

Dr. David Dyment

Dr. Dyment is awarded $25,000.00 by Dravet Canada for his project entitled “A Comprehensive analysis of Cannabinoid Treatment in an in vitro model of Dravet Syndrome”.

This project’s purpose is to increase the number of therapeutic options for those living with Dravet Syndrome by re-purposing FDA approved drugs to assess their effectiveness. One drug which has recently been highlighted in the literature for patients with treatment-resistant epilepsy is cannabidiol. For this portion of the trial, we will further characterize the effect of this drug in our in vitro and ex vivo Dravet models to better understand the mechanism of action.

Dr. Deborah Kurrasch, PhD
– Alberta Children’s Research Institute, University of Calgary, Alberta
– 2018

Dr. Kurrasch is awarded $17,500.00 by Dravet Canada for her project entitled “The identification of drugs that improve core autism symptoms in Dravet zebrafish models”.

Using their novel-metabolism-based drug screening platform, they will identify compounds to treat the core symptoms of autism in Dravet Syndrome. Given that roughly 25% of paediatric patients and over 60% of adults with Dravet Syndrome also are co- diagnosed with autism spectrum disorder (ASD) , there is an unmet clinical need to treat social deficits, language impairment and/or repetitive behaviours that are common among Dravet Syndrome. By comparing drug efficacy across two models of Dravet Syndrome, we have the potential to identify therapies that might act broadly across a variety of symptoms.

Dr. David Hampson BSc, MSc, PhD
– University of Toronto, Ontario
– 2018

Dr. David Hampson

Dr. Hampson and his team is awarded $5,600.00 by Dravet Canada for their project entitled “Set Up for EEG and EKG testing in a Mouse Model of Dravet Syndrome”.

Dr. Hampson will compare details of the EEG and EKG recordings of untreated SCN1A +/- mice, treated +/- mice and untreated wildtype
mice (normal) to determine the actual effects of brain function in terms of live mice to answer the question – how normal have the treated mice become vs untreated mice in terms of EEG and EKG profiles?

We are attempting to develop viral vectors that can be used for gene therapy in Dravet Syndrome.

Dr. Kenneth Myers, MD, PhD, FRCPC
– Paediatric Neurology – Mc Gill University Healthcare System, Montreal, Quebec
– 2018

Dr. Kenneth Myers

Dr. Myers is awarded $5,000.00 by Dravet Canada for his project entitled “Can Treatment reduce SUDEP Risk in Dravet Syndrome?”

This project will investigate whether heart rate variability (HRV), a recently proposed sign of SUDEP risk in DS, can be modified with specific treatments. Heart rate variability is an index of autonomic function, reflecting the balance between parasympathetic and sympathetic activity. Altered HRV was shown to be predictive of mortality in patients with cardiac disease more than 40 years ago, but more recently has become a topic of interest in epilepsy. Patients with epilepsy have lower HRV in wakefulness, and higher
HRV in sleep, when compared to healthy controls. HRV derangements may be even more dramatic in
patients with Dravet Syndrome, a sub group of people with epilepsy who are at a higher risk of
SUDEP. This finding is especially exciting as HRV derangements may be a modifiable SUDEP risk.

Dr. Richard Huntsman, MD, FRCP(C), CSCN (EEG)
– University of Saskatchewan, Saskatoon, Saskatchewan
– 2018

Dr. Richard Huntsman

Dr. Huntsman is awarded $10,000.00 by Dravet Canada for his project entitled “CBD Enriched Cannabis Herbal Extract Clinical Trial in Children with Refractory Epileptic Encephalopathy (seed funding)”. Dr. Huntsman’s team will design a large scale phase 3 randomized clinical trial assessing the efficacy of CBD enriched herbal product in children with refractory epileptic encephalopathy including children with Dravet Syndrome.

David Dyment, DPhil, MD, FRCPC
– CHEO Research Institute, University of Ottawa, Ontario
– 2017

Dr. David Dyment

In partnership with the Rare Disease Models and Mechanisms Network (RDMM), Dr. David Dyment was awarded $12 500 by dravetCanada for his project titled “Towards Personalized Medicine in Dravet Syndrome” . Dr. Dyment has proposed a drug screen “pipeline” that uses automated, high-throughput patch-clamping techniques in heterologous cells, microelectrode arrays (MEAs) of dissociated neural networks, and a novel mouse model of Dravet syndrome generated using Crisper/Cas9 technology.The overall goal of this project will be the creation of a catalog of drug(s) that act to reduce seizure frequency and mortality in a mouse model of Dravet syndrome. These FDA-approved drugs can then be taken forward for pre-clinical study. To meet this overall goal, several deliverables will need to be achieved.

Deborah Kurrasch, Ph.D
– Alberta Children’s Research Institute, University of Calgary, Alberta
– 2017

Dr. Deborah Kurrasch

In partnership with the Rare Disease Models and Mechanisms Network (RDMM), Dr. Deborah Kurrasch was awarded $12 500 by dravetCanada for her project which will conduct a comparative drug screen in zebrafish in scn1aand gabra1 loss-of-function mutants to gain insight into differences and similarities of drug efficacies and molecular targets in these two genetic causes of Dravet. The main deliverable from this work will be a greater understanding of whether Dravet models share some overlapping pathophysiology that can potentially be targeted by a small molecule, or if screening in a particular genotype will uncover genotype-specific drugs.

Pierre Drapeau, Ph.D and Eric Samarut,Ph.D, MBA
– Research Center of the University of Montreal Hospital Center, Quebec
-2016

Eric Samarut

In partnership with the Rare Disease Models and Mechanisms Network (RDMM), Drs. Pierre Drapeau and Éric Samarut were awarded $12 5000 by dravetCanada for their project using the zebrafish model to characterize the phenotype of novel Dravet Syndrome (DS)-causing genes and screen for potent small molecules that could rescue their DS-like condition in two novel candidate genes, GABRA1 and CHD2. For GABRA1, they generated a knockout in zebrafish leading to generalized epilepsy. This is the first non-chemically inducible epilepsy model with evident generalized seizures as well as SUDEP (Sudden Unexpected Death in EPilepsy). Through whole transcriptome analysis and immunolabelling they found that this is the first in vivo evidence that GABA receptor-mediated generalized epilepsy is, at least in part, due to neurodevelopmental defects. They demonstrated that the zebrafish line they generated is a powerful tool for further drug-screen, paving the way for the discovery of new therapeutics for a broad range of epilepsies. Their work is pioneering in providing in vivo data showing that idiopathic epilepsies should be considered as developmental diseases rather than chronic neurological hyperexcitation. This is of prime importance for the deployment of further therapeutic strategies that would restore the developmental defects observed in the epileptic brain rather than simply attenuating the seizures.

Danielle Andrade, MD, MSc, FRCPC
– Krembil Neuroscience Epilepsy Genetics Research Program, University Health Network, Toronto, Ontario
– 2016

Dr. Danielle Andrade and her team were awarded $35 000 for their project studying “Long-term outcomes in Dravet Syndrome”. The first objective of their work is to investigate the progression of cognitive and behavioural changes along the course of Dravet syndrome (DS), especially after adolescence. The specific hypothesis behind the proposed research is that there is neurocognitive and behavioural decline as patients age. So far most research assessed the cognitive status in paediatric Dravet patients. Therefore, there is scant information about how subjects diagnosed with DS evolve into adulthood, from the neuropsychological standpoint. The second objective is to evaluate how adults with Dravet syndrome respond to medications traditionally used to treat children with DS. So far most studies evaluating the treatments for Dravet syndrome have been done in children. However, in our experience, adults with DS do not react in the same manner to the medications typically used for children with DS. Furthermore, the adults with DS have a different seizure severity and have new motor problems. So far there are no studies exploring how adults with DS should be treated and the treating neurologist will typically follow the treatment suggested for children. This may or may not be appropriate and it is therefore important to understand how adults with DS respond to medications.