The SCN8A gene was first discovered in humans by Dr. Michael Hammer, Ph.D., a geneticist who identified the gene in his own daughter, Shay Emma Hammer, soon after her death in 2011. SCN8A causes rare a form of severe epilepsy associated with developmental delay, and many other neurological symptoms. It undoubable affects thousands of individuals worldwide; however, because of its recent discovery, we only know of hundreds of cases so far.
Dr. Hammer established the Shay Emma Hammer Research Foundation in Shay’s name to help further research in SCN8A, childhood epilepsy and brain disorders, so that better treatments and therapies could be more quickly made available to children and families.
Families and children with epilepsy are in a special position to help others through participating in medical research that can lead to more effective treatments. SEHRF aids in the development of new treatments, not only by funding research, but by sponsoring the SCN8A Registry.
The Registry provides crucial information to more fully understand this disease, and to identify features that can be used as benchmarks for assessing the effectiveness of new drugs that are in development by pharmaceutical companies. The Registry also helps to identify doctors and clinics that promise to be most useful for participation in clinical trials.