Ddx3x Syndrome
DDX3X syndrome
Silvia De Rubeis
The laboratory of Silvia De Rubeis, PhD, at the Seaver Autism Center for Research and Treatment in the Department of Psychiatry at the Icahn School of Medicine at Mount Sinai in New York, is seeking an ambitious, creative, and motivated postdoctoral fellow with expertise in neuroscience to study the mechanisms underlying intellectual disability (ID) and autism spectrum disorder (ASD). Dr. De Rubeis’ laboratory aims at translating emerging genetic findings from large-scale genomic studies into functional analyses in cellular and mouse models with the goal of understanding the pathogenic underpinnings of ID and ASD. The laboratory focuses on DDX3X syndrome, a rare genetic disorder associated with ID and ASD, using cellular and animal models. Our team currently includes two postdoctoral fellows, a PhD student, three research associates, one undergraduate student, and three high-school students.
Autism spectrum disorder: from gene discovery to functional insights
Autism spectrum disorder (ASD) is a neurodevelopmental disorder affecting up to 1% of the population. Over the past few years, large-scale genomic studies have identified hundreds of genetic loci associated with liability to ASD. It is now time to translate these genetic discoveries into functional studies that can help us understand convergences and divergences across risk genes, and build pre-clinical cell and animal models. In this seminar, I will discuss some of the most recent findings on the genetic risk architecture of ASD. I will then expand on our work on biomarkers discovery and neurodevelopmental analyses in two rare genetic conditions associated with ASD: ADNP and DDX3X syndrome.