Here are our introductory comments:
Dr. Ana Mingorance is a neuroscientist specialist in genetic epilepsy and an independent consultant in orphan drug development for neurological diseases. She is a scientific advisor for the Davet syndrome European Federation. Ana is a strong advocate for patient involvement in drug discovery and developments and frequently joins forces with the patient communities to accelerate the development of new treatments.
Dr. Mingorance received her PhD from the University of Barcelona in Spain and completed her postdoctoral fellowship at the University of British Columbia in Canada.
Dr. Ana Mingorance is a neuroscientist specialized in genetic epilepsy at Dracaena Consulting. In this webinar, Dr. Mingorance talks about the evolution of drug discovery in epilepsy; it started out with many drugs having the same mechanisms focused on helping epilepsy, and now companies are focused on orphan epilepsies. This evolution was made possible by studying genetics; next generation sequencing has led to the discovery of 400+ epilepsy genes which can be used to help symptoms as well as to treat the cause of a patient’s epilepsy. Dr. Mingorance then moves on to the 4 types of epileptic treatments and whether or not they could work for treating SYNGAP1. Treatments including epilepsy drugs, ASOs (antisense oligonucleotides) to increase or reduce gene expression, and gene therapies using a virus like AAV all make sense biologically for treating SYNGAP1. She concludes the webinar with the many opportunities for treating SYNGAP1; SYNGAP1 is a disease which offers many entry points for designing treatments to rescue protein expression because it is a haploinsufficiency, and SYNGAP1 deficits appear to be reversible - it is never too late to treat.