Maximilian Horlbeck, MD, PhD

The Horlbeck lab studies Chromatinopathies, a large class of genetic disorders in which disruption of chromatin modifying machinery leads to developmental delay and intellectual disability. The lab seeks to understand how chromatin regulation shapes cell fate decisions and identify paths to treatment for these disorders. Approaches include high-throughput genetic screening, genetic interaction mapping, and single cell epigenomics in iPSC-derived models. They also aim to develop new approaches to address the genetic phenomena of incomplete penetrance and variable expressivity that characterize these and other human genetic disorders.