Carol Marchetto, Ph.D. - 'Using human pluripotent stem cells to model autism spectrum disorders”

Carol Marchetto is a Senior Staff Scientist in the Laboratory of Dr. Fred Gage at The Salk Institute. Carol is involved in understanding the mechanisms by which human pluripotent stem cells become a fully developed functional neuron. Moreover, Carol is currently studying the behavior of different subtypes of human neurons in neurodegenerative/neurodevelopmental diseases such as Amyotrophic Lateral Sclerosis (Lou Gehrig’s Disease) and Autism Spectrum Disorders (ASD). Autism Spectrum Disorders (ASD) are complex neurodevelopmental diseases, highly heritable and mainly characterized by deficits in social interaction, impaired communication and stereotyped behaviors. Currently, there are no early biological markers of ASD, nor known effective treatments that lead to optimal long-term clinical outcome. Using Rett syndrome (RTT) as an ASD genetic model, Carol and colleagues demonstrated that studying developing neurons from ASD patients provided further understanding of early aspects of the disease that could be used as biomarkers for early diagnosis and also as targets for potential therapies.

Carol obtained her Ph.D. degree in Genetics and Microbiology at the University of Sao Paulo (USP), Brazil. Her Ph.D. thesis showed the use of gene therapy to revert the cancerous phenotype of skin cancer cells.