Quintana Lab

The Quintana lab focus is to understand the mechanisms underlying multiple congenital anomaly syndrome. Our work begins with patients in the clinic and we use high throughput genetic sequencing approaches to identify novel genes associated with disease. Many of the disorders we study are very rare making it difficult to label genetic variations as causal. To circumvent this problem we have turned to the developing zebrafish embryo. We use CRISPR/Cas9 mediated mutagenesis to mutate candidate genes identified via whole exome sequencing and then study the cellular and molecular consequences associated with mutation. Our projects span neural crest cell development, focusing primarily on cranial neural crest cells and Schwann cells, neural developmental mechanisms, focusing primarily on neural precursor differentiation, and most recently hematopoiesis. Our work has the potential to revolutionize how we treat multiple congenital anomaly syndromes and is a testament to the power of zebrafish as a model to inform about human disease.