Neurodevelopmental disorders including autism, early onset schizophrenia, epilepsy and intellectual disability affect about 3% of all children. Many of these diseases have a genetic basis and recent efforts have led to the identification of a large number of genes that are associated with these disorders. Animal models of these diseases have been informative in some cases but in many others have proved to be misleading. Our laboratory has developed methods for using induced pluripotent stem cells to study these diseases. We developed techniques for generating iPSCs from the skin and blood of children with several genetic mutations associated with autism and converting these cells into neurons. We have studied Timothy Syndrome, 22q13 deletion syndrome, Dravet Syndrome and 22q11 deletion syndrome. For all of these diseases, we have developed neurons and identified both biochemical and cellular defects that are associated with the mutation. In some cases we have also shown which specific genes in the deleted area are associated with the cellular defects and have identified small molecules or growth factors that can be used to reverse the cellular defects. These studies set the foundation for the development of new therapeutics to address these unmet medical needs.
Dr. Ricardo Dolmetsch is global head of neuroscience at the Novartis Institutes for Biomedical Research. His group is responsible for leveraging advances in human genetics to model and treat neuropsychiatric and neurodegenerative diseases. Areas of focus include genomics, induced pluripotent stem cells and brain circuitry.
Ricardo joined Novartis in August 2013 from the Stanford University School of Medicine, where he was an associate professor of neurobiology. He was also the senior director of molecular networks at the Allen Institute for Brain Research. His lab studied the molecular roots of autism and other neurodevelopmental disorders, including the role of calcium channel signaling. They recently used induced pluripotent stem cells to develop an in vitro model of Timothy Syndrome, a rare disease with a variety of symptoms, including the characteristic features of autism.
Ricardo received his B.S. from Brown University in 1990 and Ph.D. from Stanford University in 1997. He completed a postdoctoral fellowship at Harvard Medical School in Michael Greenberg’s lab.
Carnegie Mellon University will award the second annual Andrew Carnegie Prize in Mind and Brain Sciences to Ricardo Dolmetsch, global head of neuroscience at the Novartis Institute for Biomedical Research. The prize, given by the Center for the Neural Basis of Cognition (CNBC) and funded by the Carnegie Corporation of New York as part of its centennial celebration, recognizes trailblazers in the mind and brain sciences whose research has helped advance the field and its applications.