Dr. Anastasaki is a geneticist and the senior staff scientist in Dr. Gutmann’s laboratory. While she was a postdoctoral research fellow, she spearheaded the development of the NF1 patient induced pluripotent stem cell (iPSC) repository at Washington University. For the Giorgio Foundation NF1 Dermal Neurofibroma Consortium project, Dr. Anastasaki has generated human iPSC lines from NF1 patients that don’t develop cutaneous neurofibromas (cNFs), specifically those individuals who harbor the Arg1809Cys NF1 gene mutation. As a complementary approach, she also engineered normal iPSCs with different NF1 gene mutations found in NF1 patients with and without cNFs. Over the past three years, Dr. Anastasaki has provided these novel NF1-iPCs to Dr. Le and Dr. Kesterson for collaborative studies, as well as generated a genetically engineered mouse with the Arg1809Cys Nf1 gene mutation.
Dr. Gutmann’s lab has generated a collection of human induced pluripotent stem cells (iPSCs) harboring different NF1 gene mutations found in NF1 patients with or without cutaneous neurofibromas (cNFs). The availability of these iPSCs has been transformative, allowing researchers to study the effects of NF1gene mutations on human cells, as well as to develop novel human models of cutaneous neurofibromas.