Tag Archives: Autism spectrum

Stem Cell Possibilities in Autism Research

Announcer: Recently, Dr. Ricardo Dolmetsch, an associate professor of neurobiology at Stanford, spoke with National Institute of Mental Health Director Dr. Thomas Insel. Devoted to Autism Spectrum Disorder research, Dr. Dolmetsch and his colleagues have generated stem cells from children with autism allowing them to study how the brain develops in children with ASD.

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.
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Genetics of Fragile X Syndrome

While only a small portion of autism spectrum disorders (ASDs) can be traced to their genetic roots, those that can are most often part of Fragile X syndrome (FXS), the most commonly known single-gene cause of autism. FXS is associated with the loss of the FMR protein (FMRP) coded by the mental retardation gene 1, FMR1 gene.

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
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