Results for Activation Mutations

Dr. De Raedt researches pediatric high grade glioma development and aims to understand the involvement of crucial pathways. He investigates pathway interaction, and explores ways to develop therapies through analyzing human tumors, performing cellular studies, and developing accurate mouse models. This allows Dr. De Raedt and his team to perform novel pre-clinical studies that can lead to clinical trials.

Dr. De Leon-Crutchlow’s translational research program focuses on examining the pathophysiology of disorders of insulin regulation, identifying novel therapeutic targets, and developing new therapies for these conditions. The program approach includes patient-oriented research and bench research employing mouse models and primary islet cultures.

Dr. Mossé's research goal is to improve cure rates for the childhood cancer neuroblastoma by discovering the genetic basis of the disease and translating rational therapeutic opportunities to the clinic. She studies the contribution of DNA sequence variations and activation mutations of anaplastic lymphoma kinase (ALK) genes on the development and progression of both inherited and acquired forms of neuroblastoma.

Dr. Stanley’s lab has identified many of the genes and syndromes associated with congenital hyperinsulinism including ABCC8, GCK, GLUD1, and Turner and Beckwith syndromes. Working with clinical and rodent model studies, his lab team has identified distinctive phenotypes of these disorders, including diazoxide unresponsiveness, leucine sensitivity, and protein sensitivity. Dr. Stanley continues to seek new diagnostic and treatment paradigms for infants with acquired and genetic disorders of hyperinsulinism.