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One of the top priorities of our group is to identify rare mutations that increase the risk of developing eating disorders. Our group collects DNA samples from both large families with multiple individuals affected by eating disorders and from individual cases. In the case of large families, we use next generation sequencing techniques to identify rare mutations that segregate with the diagnosis of an eating disorder. After identifying these candidate mutations, we then see if the mutation is present in the individual cases of eating disorders.
After identifying novel mutations that increase the risk of developing an eating disorder, we then study the effect of the mutation on protein function using cell culture experiments to perform biochemical studies, such as transcriptional activity, protein expression, and protein binding.
An important part of understanding the physiological function of proteins to determine their expression pattern. Using techniques such as immunohistochemistry and retrograde tracing, we identify the specific neurons that express our proteins of interest and determine their projection sites.
The final step of our evaluative process is to study the role of normal and mutant proteins on neurophysiology and behavior. Mouse genetics now allows us to manipulate gene expression in either the whole mouse or in specific neuronal populations using a variety of techniques, such gene targeting, transgenic expression, Cre-Lox technology, and adeno-associated virus. Our Mouse Behavioral Phenotyping Core is fully equipped to study rodent behavior relevant to neuropsychiatric disease including: