Genomic Insight Alliance for Pediatric Epilepsy
It is estimated that over 50 Million people around the world suffer from epilepsy which can result from injury, health, environment, genetics and unknown causes. According to the World Health Organization (WHO), this makes epilepsy one of the leading global neurological diseases with 80% of people living in low- and middle-income countries. If the cause of epilepsy can be determined, it is also estimated that up to 70% of these individuals could be treated to prevent further adverse effects on cognition that has lifelong impact on the patients, care givers and health system. As a community, it is our responsibility to ensure access and equitability of knowledge and to continue to drive understanding and precision treatments for pediatric epilepsy.
As Epilepsy can appear similar across individuals, the use of not only clinical differentiation but also genetic sequencing can aid in determining cause and treatment regimen. In the case of epilepsy with genetic etiology, there are multiple biological mechanisms that are associated, and it is imperative to determine individual cause for appropriate therapeutic intervention. Unfortunately, not all patients receive genetic testing and begin a test and fail journey of treatment until one works.
In addition, one-third of patients are non-responsive to existing treatments which necessitates the need for further understanding of the genetics and biology that cause some types of epilepsy. For both the existing therapeutics and those to be developed to address new biological mechanisms, there is a great need to develop precision targeted therapies to avoid secondary affects. There remains a lack of understanding of the biology, a data gap, standardized clinical protocols and treatment options for epilepsy that can be driven by genomic insights and alliances globally.
In partnership, Sanford Health and Congenica are working to drive forward genomic insights for pediatric epilepsy to address the existing challenges. The possible impact of integrating genetic sequencing into the clinic on case management and patient outcomes will be explored. In addition, the challenges of driving creation of new knowledge around the biology of epilepsy along with driving new precision treatments will be discussed. The aim of Sanford Health System and Congenica partnership is to leverage learnings and model how implementation of this program can be used by Sanford Wellness Clinics in low- and middle-income countries, bringing equity and access globally. Lastly, the importance of global implementation of standardized clinical protocols will be illustrated through exploring how knowledge can seed programs and international alliances can broaden the diversity of data through a virtuous cycle of knowledge to treat pediatric epilepsy.
Register for this webinar to learn about the applications of genomics to the research and treatment of pediatric epilepsy.
David A Pearce, PhD, President of Innovation, Research, & World Clinic, Sanford Health
David Pearce is President of Innovation, Research, & World Clinic for Sanford Health. He completed his undergraduate Bachelor of Science Degree with honors in biological sciences at Wolverhampton Polytechnic in 1986. He gained his PhD in 1990 at the University of Bath, UK, and did postdoctoral training at the University of Rochester, U.S., and Oxford University, UK.
Dr. Pearce heads the leading lab in Juvenile Batten disease research. He has been researching Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease) since 1997. His research has led to the first clinical trial for Juvenile Batten disease. He has published over 100 research papers on Batten disease. He also oversees a national registry for rare diseases known as the Coordination of Rare Diseases at Sanford (CoRDS). He has served on numerous NIH review committees, has organized rare disease workshops for the National Institute for Neurological Disorders and Stroke (NINDS) arm of the National Institutes of Health (NIH) and is currently the vice chair of the consortium assembly for the International Rare Diseases Research Consortium (IRDiRC).
As President of Innovation, Research, & World Clinic at Sanford, he oversees the development of research programs, including more than 450 researchers, eight research centers and more than 300 ongoing clinical trials.Message Presenter
Christina Waters, PhD, SVP Genomics Insights & Solutions, Congenica
Christina Waters has been responsible for leading precision medicine research and development in a broad range of organizations ranging from academia and disease – focused non-profits to biotech and large pharmaceutical companies. She has a broad range of experience in basic, translational and clinical research and business strategies converge to specialize in the development of new approaches to personalized medicine and health, creation of synergistic partnerships and implementation of new innovative research initiatives that can accelerate treatments to patients world-wide.
As CEO and Founder of RARE Science, a non-profit research organization, Christina works directly with patient families and foundations to accelerate identifying therapeutic solutions for kids with rare disease. Christina is on the World Economic Forum Precision Medicine Council and lead the Data Sharing and Interoperability work group, and advise on the Breaking Barriers to Health Data and Moving Genomics into the clinic programs. She also serves on the International Rare Diseases Research Consortium (IRDiRC) which unites national and international governmental and non-profit funding bodies, companies, umbrella patient advocacy organizations, and scientific researchers to promote international collaboration and advance of rare disease research worldwide (Africa, Asia, Australia, North America, and Europe).
Christina Waters received her Ph.D. in Genetics from the University of California, Davis as a NIH Biotechnology Fellow. She was a Postdoctoral Scholar and Associate of the Howard Hughes Medical Institute in the Division of Biology, California Institute of Technology. She also completed an NIH Postdoctoral fellowship at University of California, Berkeley, and received a Bachelor of Science in Biology from San Diego State University. Christina received her MBA from University of California, Los Angeles and was awarded the distinguished Alumni Award from the College of Sciences and finalist nominee for the Athena Pinnacle Award and Global Genes, Champion of Hope Award.Message Presenter
Who Should Attend?
- Clinical Scientists
- Clinical Geneticists
- Genomic Data Analysts
- Laboratory Managers
- Genetic Counsellors
- Directors of Diagnostics
- Diagnostics Managers
- Molecular Diagnostic Scientists
- Chief Medical Officers
- Principal Investigators
- Medical Affairs
- Rare Disease Specialists
- Epilepsy Specialists
- Clinical Researchers
What You Will Learn
- Clinical genomics’ value to case management, patient outcomes and research
- Possibility of standardized clinical protocols and value
- Equity and access for existing understanding of pediatric epilepsy for global impact
- Data sharing globally to reveal new biology to drive new precision therapies
- The need of data diversity and how to fill this gap
Congenica is a digital health company that empowers health professionals everywhere to transform the health and wellness of people around the world, guided by genomic information – enabling genomic medicine and making personalized healthcare a reality.
Congenica clinical decision support software enables genomic insights and life-changing answers for more patients, faster than ever previously possible, with the power to analyze and interpret complex NGS data, automatically, with the highest efficiency, accuracy and confidence.
Born out of pioneering research from the Wellcome Sanger Institute and the NHS, Congenica has a global footprint supporting leading international laboratories, academic medical centres and biopharmaceutical companies and is the exclusive Clinical Decision Support partner for the NHS Genomic Medicine Service.
For more information visit www.congenica.com