Michael Boland

About

I am a cellular/molecular biologist with expertise in human stem cell technology, transcriptomics, epigenetics, developmental neurobiology, gene-targeted therapy development, and drug screens. I received my PhD in Biochemistry and Molecular Biology at the University of Nebraska Medical Center (Omaha, NE) where I identified and characterized a novel link between DNA methylation and DNA repair in embryonic stem cells. I did my postdoctoral work at the Scripps Research Institute, (La Jolla, CA.) where I studied the developmental potential and genomic structural variation of mouse pluripotent stem cells via mouse cloning and whole genome sequencing. I also studied the integration of gene expression and epigenetic abnormalities during early neurodevelopment in a human pluripotent stem cell model of Fragile X Syndrome we developed in collaboration with the Fragile X Testing Center at UC- Davis. As an Assistant Professor at the Columbia University Medical Center, my group applied an integrated developmental and functional approach to model neurodevelopmental disorders using human pluripotent stem cells (2D and organoids) and genetic mouse models using single cell transcriptomics and multielectrode arrays. After studying several developmental and epileptic encephalopathies (KCNT1, GNB1, HNRNPU, GRIN2A), malformations of cortical development (MAP1B, FLNA) and congenital disorders of (de)glycosylation (NGLY1, PMM2, DPAGT1, SLC35A2), my focus shifted to developing gene targeted therapies for STXBP1 haploinsufficiency when my oldest son was diagnosed with a frameshift in STXBP1 shortly after birth. Since then, I have been a member of the scientific advisory board for the STXBP1 Foundation and am an active patient advocate. I am now the Strategic Director for Translational and Clinical Research at the ENDD Center (Penn Medicine/CHOP), which is focused on therapeutic development, natural history studies, and clinical biomarker identification for STXBP1 and SYNGAP1 disorders.

Education

Publications