“Dr. Noebels is Professor of Neurology and Director of the Blue Bird Circle Developmental Neurogenetics Laboratory at Baylor College of Medicine, where he holds the Cullen Chair of Health Sciences in Health Sciences. He is an expert in epilepsy genetics, and responsible for several major breakthroughs in the field of seizure disorders. At the Blue Bird Circle Laboratory, his team pioneered the search for genes linked to epilepsy, and now report two important breakthroughs.
The first is related to the discovery in the laboratory of the first gene for sudden unexpected death in epilepsy (SUDEP), the most common cause of premature mortality in this childhood disorder. The gene is linked to cardiac arrhythmias, and offers a genetic test to predict the risk of SUDEP. Dr. Noebels has now been awarded a major grant to lead a new NIH Center for SUDEP Research, a national network of ten clinics and basic science laboratories collaborating to understand the mysterious mechanisms leading to sudden death. As Principal Investigator, he will coordinate both the human and experimental research in this program to help save the lives of about 3,000 Americans who die every year of SUDEP.
One of the most difficult questions has been why an individual may have many seizures, yet one day is unable to recover from one. The Laboratory has now reported a breakthrough that could explain this. Instead of a problem with the heart, it is a problem deep in the brain. Using mice that carry gene defects similar to those found in patients who have died prematurely, they reported in a cover article in the April issue of Science Translational Medicine that the gene lowers the threshold for a slow electrical wave which spreads through the brainstem, where the cells that control cardiac and respiratory pacemaking rhythms are located. Once triggered, this wave silences the ability of the brain to control breathing and the heartbeat. Importantly, there may be medicines that can prevent this wave, which has also been found in other parts of the brain in people with migraine headaches.
It is exciting to think that one day the research in the Blue Bird Laboratory may allow doctors to both identify people at risk and also to intervene and prolong the lives of those with this devastating disorder.”