Importance of Research

Severe myoclonic epilepsy of infancy (or ‘SMEI’) was first described in 1978 by Dr. Charlotte Dravet and was renamed in 1989 as Dravet syndrome. By 2001, researchers had discovered that a primary cause of Dravet syndrome was related to mutations in SCN1A, a gene responsible for making sodium channels that affect electrical activity in the brain. Despite this major advancement in the scientific understanding of DS, research was still slow to follow. By 2009, families had come together to form the Dravet Syndrome Foundation (DSF) in an effort to spur and support research efforts towards a better understanding of the underlying causes, the presentation and progression, and the best treatment approaches for Dravet syndrome. DSF has made research a core priority, funding over 6.7 million dollars of research efforts since 2009. Through the combined efforts of DSF, scientists, clinicians, industry, government, and patient families, research has led to advancements in the care and treatment of those living with Dravet syndrome. While much has been accomplished, there is still great unmet need for patients and their families, underlining the importance of continuing to fund, advocate for, and participate in further research efforts.

The Importance of Basic Science Research

The initial link between DS and mutations in a gene, SCN1A, came from studies of genetic samples from human patients. Following that discovery, scientists used an array of basic science tools and studies to unravel WHY mutations in SCN1A might result in the symptoms of Dravet syndrome. Breakthroughs using cells, fish, and mice have revealed the role of this gene in specific cells in the brain and increased our understanding of how SCN1A is regulated. The development of animal models that mimic the genetics of Dravet syndrome have allowed researchers to investigate more about the cause and symptoms of Dravet syndrome and to screen drugs and therapies that could translate to human treatments. Research advancements have uncovered biological details that are guiding the development of disease modifying therapies that attempt to correct the root genetic cause of Dravet syndrome. 

The Importance of Clinical Research

Clinical research, or research directly involving humans, works hand-in-hand with basic research to improve outcomes for patients. Clinical research seeks to better understand a condition or disease or to investigate methods to intervene to improve treatment for a condition or disease. As our understanding of the cause and progression of Dravet syndrome in human patients has grown over the years through clinical research, it has improved standards of clinical care for patients as well as informed the direction of basic science research to focus on particular symptoms and interventions. In turn, basic science discoveries have led to interventional clinical trials of new medications and therapies for Dravet syndrome.

Research has Changed the Landscape for Dravet Syndrome

Basic and clinical research continue to improve outcomes for individuals with Dravet syndrome. When DSF was founded, there were no specific treatments for Dravet syndrome and research studies were still limited. The breadth and depth of research knowledge has significantly expanded since that time, further stimulating additional research efforts and leading to improved clinical care for patients.

The number of scientific publications with relevance for Dravet syndrome have continued to increase over time.

• Prior to 2001 when the initial gene associations were made, there were less than 5 publications each year with a focus on Dravet syndrome or SCN1A.
• By 2008, the number of publications had climbed to just under 60.
• In the year 2021, there were over 270 papers published related to Dravet syndrome or SCN1A.

 The National Institutes of Health (NIH), the government agency responsible for supporting biomedical and public health research, has also increased funding for grants related to Dravet syndrome.

• NIH funding for projects related to Dravet syndrome were similarly lacking in the early 2000s, with the first relevant funding occurring around 2003.
• By 2008, the NIH was directing about 2.6 million dollars towards Dravet-related research.
• Since 2014, the funding for these types of projects often exceeds 10 million dollars each year.

These increases in scientific funding and publications are representative of major advancements to the field that have subsequently impacted patient care. A few key examples of such advancements are outlined below: