While scientists understand the biochemical nuances of these mutations, their implications on neuronal development and function remain a mystery. To address this puzzle, HSCI Associate Faculty member Stephen Haggarty, PhD, reprogrammed a series of both mutated and non-mutated cells back into a stem cell state in which they have the ability to derive new tissues.
Haggarty and his team found that the FMR1 mutations present in the induced pluripotent stem cells (iPSCs) do not always resemble those in the naturally occurring cells from which they came. This offers valuable information as other researchers begin to design investigations using these iPSCs.
Additionally, the team used the cell lines to generate a variety of neuronal cell types. While FMRP loss did not prevent neurodevelopment, it did impact cell quality, suggesting an important role for FMRP early in human neurodevelopment. These findings will allow researchers to characterize existing drugs and develop new therapies for the treatment of some ASDs.
Dr. Thomas Insel: I thought a good place to begin the conversation was to ask you about your interest in autism and how that happened. You’re someone who trained in calcium channels… worked on very basic problems in molecular biology and now you’re interested in autism…
Dr. Ricardo Dolmetsch: Right, when I first got to Stanford I was interested in a very basic question.. and um.. you know for a few years we worked on that and that was really exciting but it was very arcane. And then about I guess four and a half years ago, our son was diagnosed with autism. And so this really changed my…the direction of my lab. Actually, what really happened was that my wife and I got together and we thought a little bit about what we could do and we came up with a bunch of projects and one of the ideas was that we were going to just change all of our efforts and that’s how we started working on autism.
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