Symposium 5 (open)
Founders of the Research Initiative Symposium
Serotonin and Autism Spectrum Disorder: Clues to a 50 Year Old MysteryRandy D. Blakely, PhD, is the Allan D. Bass Professor of Pharmacology and Psychiatry at Vanderbilt
Brain Institute and Silvio O. Conte Center for Neuroscience Research at Vanderbilt University School
of Medicine. His research focuses on the molecular neurobiology of neurotransmitter signaling
at central and peripheral synapses, and the contribution made by membrane transporter proteins
to synaptic neurotransmitter homeostasis. His work has uncovered multiple regulatory pathways
that function in cells to control the surface expression and catalytic activity of transporter proteins,
findings that have shed light on the synaptic impact of transporter mutations from human subjects
afflicted with autism, ADHD, OCD, depression, cardiovascular, and gastrointestinal disorders. In turn,
these studies have led to the creation of important animal models that impact brain and peripheral
physiology and behavior and that now serve as important in vivo tests for mechanistic hypotheses
as well as drug discovery. Having had, like many, personal experience with the devastating impact of
neurobiologically-driven disorders on the lives of children, adults, and families, Dr. Blakely is gratified
that his group’s contributions, often at a very basic level, have the potential to make a lasting
contribution to our understanding of these conditions and their treatment.
Genetic Mechanisms Controlling the Development of the Forebrain
John L.R. Rubenstein, MD, PhD, is a Professor in the Department of Psychiatry at the University
of California, San Francisco. As a postdoctoral fellow at the Pasteur Institute (1984–86; with
Francois Jacob and J.F. Nicolas) he was one of the discoverers that antisense RNA can inhibit
gene expression. He also developed retroviral vectors for gene delivery and fate mapping in
mouse embryos. As a resident physician in child psychiatry specializing in autism at Stanford
(1986–1991), Dr. Rubenstein devised a method to identify genes that are preferentially
expressed in the embryonic forebrain, which led to the discovery of the Dlx2 and Tbr1
transcription factors. These genes served as entry points for his studies at UCSF, where, since
1991, he has performed genetic studies of mammalian forebrain development and human
neuropsychiatric disorders. He has investigated: organization of the embryonic forebrain;
forebrain patterning centers and their regulation of cortical organization; transcription factors and
enhancers that control regional and cell-type specification of brain subdivisions; differentiation,
migration and function of GABAergic interneurons; translational studies of treatment for
epilepsy; and analyses of transcription factor mutations that may contribute to autism.
Sponsored by the AACAP Research Committee