Thursday, December 5th - 6:00 pm
InterContinental LA Downtown
Agenda
| TIME | PROGRAM | DETAILS |
|---|---|---|
| 6:00-7:00 | Registration and dinner buffet are open | |
| 7:00-7:05 | Welcome & 2024 Grant Award Announcements |
Veronica Hood, PhD Scientific Director, DSF |
| 7:05-7:20 | Reflections on 15 years of Progress in Dravet Syndrome Research |
Mary Anne Meskis Executive Director, DSF Veronica Hood, PhD Scientific Director, DSF Lori Isom, PhD University of Michigan |
| 7:20-7:40 | SCN1A Gene Regulation Therapy: Targeting the Root Cause of Dravet Syndrome with ETX101 |
Sal Rico, MD, PhD, Chief Medical Officer, Encoded Therapeutics |
| 7:40-8:00 | The Zorevunersen story: Insights from the development of the first potential disease-modifying medicine for Dravet syndrome |
Barry Ticho, MD, PhD, FACC Chief Medical Officer, Stoke Therapeutics Isabel Aznarez, PhD Chief Medical Officer Sr VP of Discovery Research and Co-founder, Stoke Therapeutics |
| 8:00-8:20 | Progress in MGE-cell therapy and future outlook for alternative applications |
Marina Bershteyn, PhD Director Discovery Research, Neurona Therapeutics |
| 8:20-8:30 | BREAK | |
| 8:30-8:50 | Rescue of Scn8a-DEE mice by downregulation of SCN8A |
Wenxi Yu, PhD Research Investigator, University of Michigan |
| 8:50-9:10 | Gene supplementation approaches for the treatment of Dravet syndrome |
Ruben Hernandez-Alcoceba, MD Principal Investigator of the Gene Therapy for Congenital Encephalopathies Group, University of Navarra |
| 9:10-9:30 | Interneuron-specific Gene Replacement Therapy for Dravet Syndrome: A Preclinical Trial Update |
Franck Kalume, PhD Associate Professor, University of Washington |
| 9:30-10:00 | Discussion & Final Remarks |
Lori Isom, PhD University of Michigan Veronica Hood, PhD Scientific Director, DSF |
Speakers
Isabel Aznarez, PhD – Sr VP of Discovery Research and Co-founder, Stoke Therapeutics
Isabel Aznarez is senior vice president of Discovery Research and a co-founder at Stoke Therapeutics. Isabel has extensive experience in human genetics, RNA metabolism and modulation of RNA processes using antisense oligonucleotides. Prior to founding Stoke Therapeutics, she was a research investigator with Professor Adrian Krainer, whose lab she joined as a postdoctoral fellow in 2008. Previously, Isabel was a researcher at the Hospital for Sick Children with Professor Lap-Chee Tsui, where she focused on the effect of cystic fibrosis mutations on the splicing of the CFTR gene. Isabel holds a Ph.D. in molecular and medical genetics from the University of Toronto and a B.Sc. in biology and human genetics from the University of Uruguay.
Marina Bershtyn, PhD – Neurona Therapeutics
Dr. Marina Bershteyn is a co-director of Discovery Research department at Neurona Therapeutics. For the past 15 years, she has been learning about brain development and applying human pluripotent stem cell (hPSC) models to recreate the cellular diversity of the human brain with the hope of understanding the mechanisms of and developing regenerative therapies for neurological and neurodevelopmental disorders.
Dr. Bershteyn joined Neurona Therapeutics in 2015 as one of the founding scientists, where she led the development of a novel hPSC-derived GABAergic interneuron cell therapy for mesial temporal lobe epilepsy, from early-stage protocol optimization, scale-up, cell processing, cryopreservation, and GMP manufacturing, to molecular characterization through single cell RNA sequencing, all the way to the IND approval by the FDA for First-In-Human Phase I/II Clinical Study.
Prior to joining Neurona, Dr. Bershteyn did her postdoctoral research in developmental neuroscience at UCSF, where she established the first patient-derived induced pluripotent stem cells (iPSCs) from lissencephaly and ring chromosome disorders and implemented 3D cerebral organoid models together with live imaging and single cell transcriptomics to study the mechanisms of human neurodevelopmental disorders. She obtained her PhD in cancer biology at Stanford University, where she investigated epithelial-mesenchymal Sonic Hedgehog (Shh) signaling and cytoskeletal regulation in the context of skin cancer and hair regeneration.
Ruben Hernandez-Alcoceba, MD – Principal Investigator of the Gene Therapy for Congenital Encephalopathies Group, University of Navarra
Ruben Hernandez-Alcoceba graduated in Medicine (1994) and obtained his PhD (1998) in Spain. His post-doctoral training was in the field of oncolytic adenoviruses in the Cancer Center of the University of Michigan (Ann Arbor, MI, USA, 1998-2002). In 2003 he obtained a researcher position in the Center for Applied Medical Research (University of Navarra, Pamplona, Spain). Since then he has designed and evaluated adenoviral vectors for cancer immunotherapy, as well as adenoviral and AAV vectors for the treatment of genetic diseases such as Wilson´s disease, cerebrotendinous xanthomatosis and Dravet syndrome. His team has pioneered gene supplementation approaches for the treatment of Dravet syndrome and now they are focused on methods to obtain physiological expression of transgenes for the treatment of genetic encephalopathies.
Franck Kalume, PhD Associate Professor, University of Washington
Dr. Franck Kalume is an Associate Professor in the Department of Neurological Surgery, and an Adjunct Associate Professor in the Departments of Pharmacology and Global Health at the University of Washington. He is also a Principal Investigator at Seattle Children’s Research Institute where his research lab is based. His research interests are twofold: (1) Understanding the pathophysiological mechanisms of seizures and comorbid conditions in genetic developmental and epileptic encephalopathy. (2) Using the knowledge uncovered to develop novel mechanism-based therapeutic approaches for these epilepsies and associated conditions. His current projects are centered on using genetic mouse models to elucidate the cellular and network mechanisms of epilepsy, sleep disturbance, and sudden unexpected death in three debilitating and life-threatening forms of epileptic disorders with distinct genetic etiology, namely the SCN1A-related Dravet syndrome, PIK3CA-related focal cortical dysplasia, and NDUFS4-related Leigh syndrome. Moreover, Dr. Kalume’s work is focused on developing novel genetic approaches for Dravet and Leigh syndromes. Finally, in accordance with his research activity, Dr. Kalume is Associate Director of Invent at Seattle Children’s, a unique and innovative postdoctoral training program at Seattle Children that is invested in training early career scientists in the development of therapeutics for childhood conditions.
Sal Rico, MD, PhD – Chief Medical Officer, Encoded Therapeutics
Dr. Salvador Rico is the Chief Medical Officer at Encoded Therapeutics, where he applies his extensive experience in clinical research to lead medical strategy and the development of AAV-based gene therapy products for pediatric neurological disorders, such as SCN1A + Dravet syndrome, among others. Dr. Rico has participated in the design, conduct, and analysis of Phase 1-4 clinical trials in multiple therapeutic areas, and has made valuable contributions to the regulatory approval of numerous drugs, biological products, and medical devices. Dr. Rico obtained his Doctor of Medicine and Surgery degree from the National Autonomous University of Mexico and holds an M.S. and a Ph.D. in pharmacology from the Universitat Autonoma de Barcelona.
Barry Ticho, MD, PhD, FACC – Chief Medical Officer, Stoke Therapeutics
Barry Ticho is the chief medical officer at Stoke Therapeutics, where he is helping to lead the company’s efforts to develop first-in-class therapeutics to treat rare diseases. Prior to joining Stoke, Barry was most recently head of development of mRNA treatments for cardiovascular and metabolic diseases at Moderna Therapeutics. Before Moderna, he was head of external R&D innovation for cardiovascular and metabolic diseases at Pfizer, and before that, he was vice president of clinical development at Biogen. Barry obtained his M.D. and Ph.D. degrees from the University of Chicago. He completed pediatrics training at Northwestern University and a cardiology fellowship at Boston Children’s Hospital. Barry has also served as a member of the clinical staff at Harvard Medical School and Massachusetts General Hospital, where he conducted laboratory research on the regulation of cardiac development.
Wenxi Yu, PhD – Research Investigator, University of Michigan
Dr. Yu received his BS degree in Biological Engineering at the Beijing Institute of Technology in China. He then did his PhD research at Wayne State University, studying genetic diseases caused by perturbation in phospholipids metabolism. Currently he is a Research Investigator in the Department of Human Genetics at University of Michigan. His study focuses on Developmental and Epileptic Encephalopathy caused by variants in the voltage gate sodium channel gene SCN8A. He is currently developing and testing genetic therapies using Scn8a mouse models.
Moderators
Lori Isom, PhD – University of Michigan
Dr. Isom is the Maurice H. Seevers Professor and Chair of the Department of Pharmacology, Professor of Molecular and Integrative Physiology, and Professor of Neurology at the University of Michigan Medical School. Prior to becoming Chair of Pharmacology she served as Director of the Program in Biomedical Sciences and Assistant Dean for Graduate Education in the University of Michigan Medical School. She received her PhD in Pharmacology at Vanderbilt University School of Medicine and then trained as a postdoctoral fellow in the laboratory of Dr. William A. Catterall at the University of Washington. Dr. Isom’s postdoctoral research included the first cloning, sequencing, and expression of voltage-gated sodium channel SCN1B and SCN2B, encoding b1 and b2 subunits, respectively.
Dr. Isom’s laboratory employs a variety of techniques, including cellular and molecular biology, genetics, and electrophysiology. Highlights of Dr. Isom’s research program include the discovery that sodium channel b subunits, in addition to functioning as ion channel modulators, are multi-functional cell adhesion molecules of the immunoglobulin superfamily that regulate neuronal migration, pathfinding, and fasciculation. She reported the first mutation in SCN1B linked to Dravet syndrome and collaborates with Dr. Jack Parent and Dr. Miriam Meisler to investigate SCN1A, SCN1B, and SCN8A epileptic encephalopathy mutations in mouse models and human induced pluripotent stem cell (iPSC) neurons and cardiac myocytes.
Her research has focused on the physiology and pharmacology of voltage-gated sodium channels and the role of sodium channel mutations in epilepsy, cardiac arrhythmia, and demyelinating disease. She has played a critical role in using translational research to model and find treatment for a rare form of infantile epilepsy known as Dravet syndrome (DS) that increases risk for Sudden Unexpected Death in Epilepsy (SUDEP). The syndrome has been linked to loss of function mutations in the SCN1A gene that causes an improper folding of NaV1.1 channels in GABAergic interneurons. Decreased excitation of GABA interneurons can lead to neuronal hyper-excitability and seizures as well as cardiac arrhythmias. Dr. Isom’s lab has published over 90 articles and received $22 million in funding to investigate genetic links between neuronal excitability and epileptic encephalopathy.
In addition to her research activities, Dr. Isom serves as PI of an NIH funded T32 grant, co-chairs the Dravet Syndrome Foundation Scientific Advisory Board with Dr. Parent, serves on NIH grant study sections and editorial boards of scientific journals, and has received awards for research and mentoring, including a recent NINDS Javits R37 MERIT award and the University of Michigan Rackham Distinguished Graduate Mentoring Award. In 2011, she was elected a Fellow of the American Association for the Advancement of Science for her work in Neuroscience and Graduate Education.
Veronica Hood, PhD – Scientific Director, DSF
Veronica joined DSF in 2020. She has an MS in Biology from East Tennessee State University and a PhD in Cell, Stem Cell, and Developmental Biology from the University of Colorado. She spent 10 years in laboratory settings researching how small changes in genetic and molecular regulation contribute to complex neurological diseases. In 2007, Veronica had a son, Gabriel, who faced severe developmental challenges. Gabriel presented with initial seizure activity within his first two months of life, and his medical needs quickly became quite complex. Despite endless testing, a diagnosis remained elusive, and at the age of 8, Gabriel passed away.
These experiences fueled Veronica’s passion to advance medical research and shaped her desire to support other families facing similar challenges. She hopes to apply her scientific knowledge and her understanding of the caregiver experience to support the Dravet community by facilitating Dravet-focused research and acting as a liaison between researchers, professionals, and families.
DSF Staff
Mary Anne Meskis – Executive Director, DSF
Mary Anne was a founding member of the Dravet Syndrome Foundation (DSF) in 2009 and has served as the Executive Director since 2012. Before shifting her focus towards advocacy, she owned and managed several businesses in the private sector for over 25 years, with an emphasis on project management. Her professional background, combined with her personal experience as a parent of a child with Dravet syndrome, equips her to lead the organization and connect families, clinicians, researchers, and industry effectively.
Under her leadership, DSF has prioritized research, patient community engagement, and education. These initiatives have led to significant achievements, including the development of international consensus clinical care guidelines, the establishment of ICD-10 codes, and foundation-led publications addressing unmet needs, relevant outcomes, and caregiver treatment preferences. Through her stewardship, DSF has established itself as the largest nongovernmental funder of Dravet syndrome-specific research globally. Since 2016, DSF has collaborated with various industry partners on multiple clinical trials, some of which are still ongoing. These efforts have led to the FDA approval of three medications for treating Dravet syndrome since 2018.
