Ross Clinical Research
Dr. Judith Ross is a physician scientist in the Department of Pediatrics and is board certified in Pediatrics and Pediatric Endocrinology. Her lab has focused on neurodevelopmental outcomes in children with X and Y chromosome disorders (XYY syndrome, Klinefelter syndrome, Turner syndrome), with over 25 years of NIH-funded pediatric clinical research. Results of this research has elucidated neurophysiological, pathological, and molecular genotype-phenotype relationships, and the role of selected X and Y genes in children in health and disease. The current focus in her lab involves defining genetic etiologies of autism spectrum disorders (ASD) and establishing clinical-pathophysiological mechanisms in ASD. A known, genetic risk factor for ASD is the male sex chromosome disorder, 47,XYY syndrome (XYY, 1/1000 males), and their increased autism risk suggests the involvement of sex-linked genes in autism (Y chromosome genes related to brain development and function, thereby increasing ASD risk). Current clinical research in Dr. Ross’ lab takes advantage of the detailed ASD characterization of clinical ASD populations, extensive genetic analyses of a Y chromosome synaptic protein NLGN4Y (with Merry and Dalva labs), innovative neuroimaging expertise (CHOP collaboration), multi-modal data collection, and sophisticated analysis. This translational research will result in new bidirectional insights (“bench to bedside”) and will advance our understanding of sex differences, ASD neurobiological mechanisms, relevant biomarkers, and future disease-specific treatments.
- Y chromosome effects on brain and behavior. Understanding the differentiation of human brain and behavior is relevant to understanding disorders that differ in males versus females.
- XYY syndrome is an informative genetic model of Y chromosome gene determinants in male predominant disorders such as ASD and may be related to the male predominance of ASD.
- The Y chromosome gene, neuroligin 4Y (NLGN4Y), encodes a synaptic cell adhesion molecule. NLGN4Y expression is increased in XYY, which may provide biomarker for ASD behavioral features.
- Neuroimaging approaches suggest that brain regions critical to social cognition are anatomically and functionally altered in boys with XYY, similar to findings in idiopathic autism (Dr. Roberts, CHOP) and may provide biomarkers for ASD behavioral features.
833 Chestnut Street
Philadelphia, PA 19107