NSGR - Exploring the Genomic Dark Matter of Neurodevelopmental Disorders - Isabelle Schrauwen, PhD

Learning Objectives:

1. Analyze the limitations of current diagnostic molecular techniques in identifying pathogenic variants associated with neurodevelopmental disorders.
2. Evaluate the role of advanced genomic technologies in detecting structural variants missed by conventional genetic testing methods.
3. Discuss the implications of uncovering novel genes and novel variants for improving diagnostic outcomes and guiding future research in neurodevelopmental disorders.

About this presenter:

Isabelle Schrauwen, PhD
Associate Professor, Translational Neurosciences
The University of Arizona College of Medicine – Phoenix

Dr. Isabelle Schrauwen is a human geneticist focusing on the genetic mechanisms behind disorders affecting the nervous system, development and sensory functions. Her research primarily addresses pediatric conditions, including neurodevelopmental and sensorineural disorders, often marked by long, inconclusive diagnostic journeys. Using family- and population-based methods, she aims to identify pathogenic variants and novel pathways, employing advanced omics technologies such as genomics, transcriptomics and epigenomics. Her work, bridging neuroscience and genetics, aims to uncover therapeutic and preventative strategies for these conditions.

Dr. Schrauwen earned her PhD in Biomedical Sciences from the University of Antwerp, Belgium and completed postdoctoral training at TGen in Phoenix, AZ and the University of Antwerp. Prior to joining the college, she was an Assistant Professor at Columbia University’s Center for Statistical Genetics in the Neurology Department.