Shay’s father, Dr. Michael Hammer, decided to take things into his own hands and try to find the cause of his daughter’s epilepsy. At the time, Dr. Hammer was the Director of the University of Arizonas Genetics Core and a researcher studying human genomic variation for the purpose of understanding human origins and adaptation. After receiving approval from the University, Hammer and his team began their work and sequenced the entire genome (genetic material) of Shay, her brother, her mother and Hammer himself. Shortly, after beginning this family genome project, Shay Emma Hammer passed away suddenly in her sleep. She was 15 years old.

Shay’s father, Dr. Michael Hammer, decided to take things into his own hands and try to find the cause of his daughter’s epilepsy. At the time, Dr. Hammer was the Director of the University of Arizonas Genetics Core and a researcher studying human genomic variation for the purpose of understanding human origins and adaptation. After receiving approval from the University, Hammer and his team began their work and sequenced the entire genome (genetic material) of Shay, her brother, her mother and Hammer himself. Shortly, after beginning this family genome project, Shay Emma Hammer passed away suddenly in her sleep. She was 15 years old.

Shay’s passing was a result of Sudden Unexpected Death in Epilepsy (SUDEP), which shuts down the brain, heart and lungs. It affects one in 1,000 people with epilepsy, Shay was at higher risk of this due to her early onset and continued seizures.

Dr. Hammer and his lab continued their research. He wanted to find the cause of Shay’s disorder and help others like her. One day, while at home and still grieving Shay’s loss, he received a phone call from a post-doctoral fellow in his lab that had taken over the family genome project. Dr. Krishna Veeramah had interesting news: he believed that the lab had found the gene that caused Shay’s epilepsy.

In 2012, Dr. Hammer and his lab published convincing evidence that a mutation in a gene known as SCN8A, was the cause of her disease. The SCN8A gene governs electrical signals communicated among neurons of the brain. Genetic alterations in SCN8A cause severe epilepsy and other serious neurological symptoms. Shay had an extremely rare form of epilepsy caused by a new mutation in her DNA, resulting in a single amino acid change in the SCN8A protein—a change that had not been passed from her mother or father, and did not exist in her brother. Up until Dr. Hammer’s research findings, a mutation in SCN8A had never shown up in any other epilepsy patient.

Since his findings, more than 300 cases of SCN8A have been diagnosed in people living all over the world. Unfortunately, there is still no cure for SCN8A, and children with this devastating disease typically take multiple drugs and still have seizures.

Through extensive research, Dr. Hammer and his lab continue the search for a cure not only for SCN8A, but for other forms of epilepsy and childhood disorders. By supporting the Shay Emma Hammer Research Foundation, you too can be a part of this effort.