Target discovery in inherited muscle weakness

“I used Paul’s services because I wanted to understand the cause of severe inherited muscle weakness in a mutant mouse; I could have done this myself, but I wanted an approach that would be time-efficient and allow me to focus on other work. My goal was to better compare the animal model with the human condition.

The targeted approach that he suggested was innovative & flexible and could be applied to any mutation. Once we got our sequence data, using the analyses Paul had developed with a bioinformatician, it was obvious that only two mutations were good candidates. I was delighted with these results and was able to publish them in a high-impact journal. I would recommend Paul highly to anyone wanting to understand & publish the functional effects of mutations.”

Dr. Gonzalo Blanco.

Read more about the project here.

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