The Center for Regenerative Medicine, together with the Intellectual and Developmental Disability Research Center (IDDRC) at Washington University, awarded a pilot award to Kristin Kroll, PhD to study the impact of NF1 gene mutations on brain nerve cells (neurons). The focus of this study is to understand how NF1 mutations affect brain development relevant to learning disabilities, attention deficit, and autism, which are all common in children with NF1.
Dr. Kroll is an expert in the use of human stem cells from skin or urine specimens, called induced pluripotent stem cells (iPSCs) to study the formation and function of neurons. Teaming with David H. Gutmann, MD, PhD whose research laboratory has developed a large collection of NF1-patient iPSCs to determine whether NF1 mutations affect the ability of human brain stem cells to develop into neurons. In addition, they will explore the idea that NF1 gene mutations could alter the balance of inhibitory versus excitatory neuron activity.
This collaborative study represents an exciting new direction for the NF Center, and may reveal how NF1 gene mutations affect human brain development and function.