DSF is dedicated to funding the highest caliber research on Dravet syndrome and associated epilepsies. Our focus is on research projects that will find new treatments and improve the quality of life for those living with an ion channel epilepsy. We places a high priority on funding research that has a clear path to genetic understanding, clinical application, and/or therapeutic development.
Yesterday evening – at our 10th annual Research Roundtable in Baltimore, Maryland – we first announced our 2019 Research Grant Awardees. I am excited to be able to share them with our entire community today.
Danielle Andrade, MD, MSc – University of Toronto
Multi-modal assessment of adults with Dravet syndrome
Dr. Andrade plans to better characterize the adult patient with Dravet syndrome. She will study balance, gait, posture, memory, ability to perform day-to-day activities, and genome in a cohort of adults with Dravet syndrome to test the hypothesis that there may be premature brain aging in adult patients. They also plan to explore whether previous use of contraindicated medications influence adult outcome.
Jennifer Kearney, PHD – Northwestern University
MicroRNA-mediated modification of Dravet syndrome
Dr. Kearney plans to investigate microRNAs (small RNA molecules that regulate expression of gene products) and their modulation of Nav1.1. They have identified two miRNAs that are elevated following seizures and can reduce SCN1A expression and hypothesize that this may contribute to disease progression. She will study this relationship further and evaluate this pathway as a therapeutic target for Dravet syndrome.
DSF is able to continue to fund cutting-edge research projects such as these thanks to the generous support from our community. Our united efforts have brought about positive changes and improvements in the field of Dravet syndrome, and we are excited and optimistic about what the next ten years will bring for our patient community.