Edwin Weeber, Ph.D.

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I have been interested in Angelman Syndrome for over 10 years. I started when I was a Post Doctoral Fellow in the lab of David Sweatt, Ph.D. at Baylor College of Medicine in Houston, Texas. His lab was one of the first in the country to employ a multidisciplinary approach (behavior, electrophysiology, biochemistry, molecular biology, etc.) to better understand the molecular mechanisms of learning and memory.

His lab was “next door” to the laboratory of Aurther Beaudet, M.D., the pioneer in AS research that was instrumental in finding the Angelman Syndrome locus and developing the mouse model for AS that we still use today.

Dr. Sweatt and I were both interested in how a gene that encodes for a “house-keeping” protein would result in such a profound human cognitive disorder. Work I performed in Dr. Sweatt’s lab resulted in our identification of an alteration in the activity state of an important enzyme called CaMKII (Calcium Calmodulin Protein Kinase II). Dr. Beaudet’s generosity and collaborative nature allowed me to take the AS mouse model with me to Vanderbilt University when I started my own lab in 2004.

Since that time we have slowly expanded our research program and we are currently focused on several specific areas of AS research:

1) Predicting the effectiveness of a treatment for AS in the adult.

2) Understanding the contributions and mechanisms controlling paternal Ube3a
    expression.

3) Identifying potential therapeutics to overcome maternal Ube3a deficiency.

4) Evaluating currently available therapeutics for the treatment of AS.

5) Identifying novel therapeutics for the activation of the paternal Ube3a gene.