Research
Embedded Files
Disease
Disease
How do specific mutations impact human development and give rise to disease phenotypes? We employ mutational modeling with CRISPR in human induced pluripotent stem cells and characterize derivative brain organoids to investigate neurodevelopmental disorders. A major focus is reciprocal genomic disorders, syndromes arising from large, recurrent deletions and duplications of specific chromosomal segments.
Evolution
Evolution
Genetically, what makes us human? Despite the Human Genome Project being declared complete more than 20 years ago, the key evolutionary genetic changes underlying uniquely human traits remain largely unknown. We integrate comparative genomics, large-scale analyses of human genetic variation, functional genomics, and cerebral organoid modeling to derive genetic answers to longstanding questions surrounding human origins.
Technology development
Technology development
Can we develop better approaches for reading and writing genomic variants? Accurately detailing complex genetic variation and precisely introducing variants of interest into cellular genomes are critical tools in our quest to elucidate genotype-phenotype relationships. Past projects have focused on genotyping duplicated genes and on scalable CRISPR genome engineering. We continue to innovate new omics technologies to expand possibilities for research and therapeutic development.
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