Steph Hao

Steph Hao is a researcher specializing in genetic and genomic studies, particularly focusing on neurodevelopmental disorders such as autism spectrum disorder (ASD) and the impact of structural variations in the human genome. She is part of the Talkowski Lab, contributing to advancements in prenatal diagnostics and the understanding of genomic disorders through cutting-edge research. Her work integrates molecular biology, computational genomics, and clinical genetics to address unresolved questions in human health.

Her research interests revolve around uncovering genetic mechanisms underlying neurodevelopmental disorders, including the study of rare coding variants, structural variations (SVs), and their functional consequences in neuronal models. She explores the implications of genomic dosage sensitivity and the application of non-invasive prenatal sequencing techniques, such as cell-free DNA analysis, to improve diagnostic accuracy. Her work bridges basic science and clinical applications, aiming to translate genetic findings into actionable insights for personalized medicine.

Steph has presented her lab’s research at major conferences, including the AGBT Precision Health Meeting and the ACMG Annual Meeting. Her contributions span interdisciplinary collaborations, emphasizing the role of structural variation detection and genomic technologies in advancing precision medicine.