The Stottmann Lab is currently collaborating with clinical partners to directly study patients with congenital malformations of the brain and face and actively enrolling in research protocols in each of these areas. The team is using whole genome sequencing to identify potentially causal genetic variants in these patients. The lab then employs CRISPR/Cas9 genome editing technology, molecular embryology, animal models, and induced pluripotent stem cells (IPSCs) to understand how these variants lead to malformations.

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As part of this work, the Stottmann Lab is pursuing a number of collaborations across the hospital and with institutions around the world. The complementary tools of genome sequencing, CRISPR genome editing, animal models and stem cell technologies offer almost limitless chances for discovery.