Neurogenetics Laboratory

Developmental Neurogenetics Laboratory

The Blue Bird Circle Developmental Neurogenetics Laboratory

An International Leader in Epilepsy Research

Laboratory Director

Jeffrey L. Noebels, M.D., Ph.D.

The Developmental Neurogenetics Laboratory was established by the Blue Bird Circle in 1986. Located in the Neurosensory Center at Baylor College of Medicine/The Methodist Hospital, the goals of the Laboratory are:

  • To discover the genes and mechanisms underlying epilepsy, the most common severe neurological disorder in children.
  • To improve the lives of children by developing more accurate ways of diagnosing and treating childhood neurological problems at the earliest possible stage.

The Blue Bird Laboratory research team has made critical breakthroughs in understanding epilepsy. These include the identification of over twenty genes related to common childhood seizures and the development of new strategies to protect the brain from seizure- induced damage. The laboratory pioneered the discovery of epilepsy genes. In the late 1990’s, the laboratory created the first national family research partnership program to discover families with epilepsy, and continues with a unique program of DNA screening in the clinic that promises major advances in our ability to correctly diagnose and treat these devastating brain disorders.

At the bench, Blue Bird scientists collaborate actively with investigators around the world to identify how each epilepsy gene defect alters the delicate firing patterns of brain cells, where in the brain the seizures arise, and when these changes begin in development.  This information is crucial to determine molecular targets for new anti-epileptic medicines, and to prevent or reverse seizure disorders in children.

In 2009 the laboratory announced the pioneering discovery of the first gene that can explain and predict sudden unexprected death in epilepsy (SUDEP). This key finding, published in the journal Science Translational Medicine, promises to fundamentally change the ability of physicians to predict and prevent this tragic outcome of certain types of epilepsy.  A second gene for SUDEP has also been reported, and the laboratory is now very actively involved in human and basic research to complete a full listing of all genes that can trigger both epilepsy and cardiac rhythm abnormalities. Research into the mechanisms of these genes will allow physicians to prolong the lives of individuals with epilepsy. 

The laboratory developed the first genetically engineered mouse model of catastrophic childhood epilepsy with infantile spasms. This model will serve as a biological test system, allowing scientists for the first time to understand the basis for this disorder and search for better medicines to reverse these extremely difficult to treat seizures.

Seizures are also common in Down’s Syndrome and some forms of Alzheimer’s Disease, and research in the Laboratory first identified staring spells in mouse models of this disorder that proved to be due to seizures. This discovery has led to a new understanding of confusional episodes and amnesia in patients with AD.

The Laboratory is continuing to expand its basic research program with the development of a state-of-the-art molecular and gene sequencing  facility and training of expert physicians and scientists.  The Laboratory has received numerous international leadership and training awards, and is funded by the National Institutes of Health to actively collaborate with many biomedical research centers worldwide.  Most recently, a $1.4 million grant has been awarded by the National Institute of Neurological Disorders and Stroke to organize a national research consortium to study sudden unexpected death in epilepsy – the leading cause of mortality in both children and adults with seizure disorders. Dr. Noebels is principal investigator and will lead the coordination of genetic, translational and clinical research projects. Experts at BCM and the Universities of California, Michigan, Iowa, and Northwestern University in Chicago will take part in the study.

 

 

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