Isaiah’s story inspires us to do more

“I have never felt so powerless as when I watched Isaiah’s first seizure.”
–C. Renzi Stone, Isaiah’s father

Isaiah had his first seizure when he was just four months old. For ten excruciating minutes, his father cradled Isaiah’s rigid body as his eyes fluttered to the back of his head and his legs jerked uncontrollably.

It soon became clear that Isaiah, like one-third of epilepsy patients, was unresponsive to current treatments. On the 333rd day of Isaiah’s life, he had a fatal seizure and died.

At the time of his passing in 2010, there was no known cause for Isaiah’s epilepsy. However, last December, his parents received a call from his neurologist. A periodic re-screening by the lab that conducted Isaiah’s original genetic testing found the faulty gene. Isaiah’s had Dravet Syndrome, a rare, catastrophic form of genetic epilepsy that starts in the first year of life and is characterized by frequent, prolonged seizures.

IsaiahIt’s hard to say if Isaiah’s story would have had a different outcome if he had received the diagnosis sooner. But thanks to CURE’s Epilepsy Genetics Initiative (EGI), families may not have to wait years to find out the truth. Please help us continue these efforts with a year-end gift to CURE.

First-of-its-Kind Initiative Aims to Unlock the Genetic Secrets of Epilepsy

Three million Americans currently live with epilepsy and 30-40 percent have uncontrollable seizures – of which genetics is proving to be a major cause. Citizens United for Research in Epilepsy (CURE) today announced the launch of its new signature program, the Epilepsy Genetics Initiative (EGI) – a first-of-its-kind database for epilepsy that aims to unlock the genetic secrets of the disease, driving research into its causes and treatments to ultimately find a cure for epilepsy.

The John and Barbara Vogelstein Foundation is the principal sponsor of EGI, having generously committed $1 million to the project over 3 years. “We think that genetics are the next frontier for epilepsy treatment,” said John Vogelstein. “We know firsthand how devastating epilepsy can be. We’re confident that with CURE’s leadership, EGI can provide families with answers, and researchers with the tools to find a cure.”
For patients diagnosed with epilepsy, initial analysis of their DNA may not identify a cause for the disease. EGI will permit for reanalysis as breakthrough genetic discoveries are made, linking patients, physicians and scientists together to better customize treatment for different forms of epilepsy.

“We now know that finding the genetic cause of a patient’s epilepsy can tell us how best to treat that patient. Getting the diagnosis right depends on a thorough and comprehensive analysis of each patient’s genetic data and being able to directly compare data against the largest possible number of patients with a similar diagnosis,” said David B. Goldstein, director of the Institute of Genomic Medicine at Columbia University Medical Center. “EGI will help to ensure that every patient benefits from the remarkable advances in epilepsy genetics and the emerging paradigm of targeting treatments to the exact underlying causes of epilepsy.”

“The primary idea behind EGI is to capture and centralize genetic data for repeat analysis with the most cutting-edge methods and the most current knowledge,” explained Dr. Tracy Dixon-Salazar, associate research director at CURE and mother of a child with severe epilepsy whose condition has been improved by exome sequencing. “Nearly one-third of all those living with epilepsy deal with uncontrolled seizures, living day-to-day at the hand of epilepsy. For these one million people, they come in unannounced and uninvited and rock your world – EGI can get us closer to identifying treatments and cures to help these and others living with epilepsy.”
EGI will allow for the discovery of additional genetic mutations that cause epilepsy, which can lead to better patient care. Knowing a person’s genetic makeup can better inform a physician’s diagnosis and treatment of epilepsy, in addition to a better understanding of why some epilepsy patients experience other conditions such as depression, autism or cognitive challenges.

“EGI has the potential to accelerate our understanding of the genetic causes of epilepsy by leaps and bounds,” said Susan Axelrod, founding chair of CURE. “Through this initiative, we can truly transform the way we diagnose and, most importantly, treat patients with epilepsy. EGI is paving the way for a future of personalized, precision medicine with the support of an unprecedented team.”

EGI is open to anyone who has epilepsy and has access to one of the official or remote enrollment sites. There are two ways to enroll – directly at one of the eight official EGI enrollment locations or by contacting CURE, who will help guide patients to a site that does remote enrollment in the program. Current EGI enrollment sites and academic partners include:

• Ann & Robert H. Lurie Children’s Hospital of Chicago
• Boston Children’s Hospital
• Duke University
• Columbia University
• New York University School of Medicine
• The Children’s Hospital of Philadelphia
• The University of Melbourne
• University of California San Francisco

EGI has been established in partnership with the National Institute of Neurological Disorders and Stroke.

Industry Partners include Ambry Genetics, Transgenomic, GeneDX, Courtagen Life Sciences and Inc, B Braun | CeGaT.


To learn more and view a video on how EGI works, please visit:

Questions? Please contact the CURE office at (312) 255-1801 or 844-EGI-CURE,

CURE Conversations: Dr. Avtar Roopra

Get to know our researchers! CURE Conversations features interviews with our scientists and discusses the focus of their work as well as recent breakthroughs in the field of epilepsy research. These investigators are the people behind the scenes who work diligently in the labs to unravel the mysteries of epilepsy, studying the science that will one day lead to cures for the epilepsies.

Can you share some details about what you do?
I run a lab in the Department of Neuroscience at the University of Wisconsin at Madison. We study the role of genes in epilepsy and breast cancer. We focus on one master regulator of genes called REST. My lab uses computational approaches to study how large patterns of gene expression in disease can be used to predict how patients will fare. We use insights from these studies to guide experiments in mouse models of cancer and epilepsy and to test novel treatments.

What motivated you to become interested in this area of research?
I have been interested in how genes are controlled since I was a graduate student. It became clear that a key controller of many genes, REST, plays a major role in epilepsy. Later we found that it also played a role in cancer. So the lab split into two subgroups to chase both these findings. The subgroups synergize very well together, such that findings in the brain color how we look at cancer, and vice versa.

What is your current research focus?
Genes are stretches of DNA that encode information required by cells to perform certain tasks. A major focus of our lab is the study of how genes in the brain are controlled by neuronal activity. How do seizures alter the patterns of genes in neurons and how do these changes alter the brain functions after a seizure? Are there long-term alterations in gene patterns after a seizure that make the brain prone to further seizures in the future? Can this long-term alteration (a process called “epigenetics”) be controlled to prevent the development of epilepsy?

Can you share some of the latest findings?
Some epilepsies are caused by environmental factors such as a head trauma. These are acquired or evoked epilepsies. Other forms of epilepsy are caused by gene mutations and are termed genetic epilepsies. We have found that we can control seizures in both genetic and acquired epilepsies with drugs that control epigenetic processes. Whereas some work has already been published showing a role for epigenetics in acquired epilepsies, our findings with genetic epilepsies were totally unexpected, novel, and exciting.

What is the ultimate goal for the research and how will it impact patients with epilepsy?
Ultimately, it is hoped that tools will be invented that can repair or fix mutated genes and cure epilepsy. However, that goal is still far in the future. Our goal is to find ways to leave the mutations alone but use epigenetics to cover up and hide the effects of the mutation. We predict that this goal can be achieved with currently available drugs and in a much shorter time frame that genetic engineering.

What accomplishment—personal or professional—are you most proud of?
I get to hang out and speak with some of the brightest people on the planet on a daily basis. I have friends across the globe who lead their fields in the sciences and humanities. As a scientist, I have achieved the position of being paid to work on my very favorite hobby! I get to witness the uncovering and discovery of new knowledge, totally unseen to any other human in the history of mankind, everyday. As a teacher, I have altered the course of young peoples’ trajectories into science. My lab has generated findings that could change clinical practice in the fields of epilepsy and breast cancer.