Alex's Lemonade Stand Foundation for Childhood Cancer

Cancers of neural and neuroectodermal origin are rare in incidence. However, high rates of mortality convert these infrequent tumors into the second leading cause of cancer-related death among children less than 15 years of age. Genetic analysis of familial cancers provides fundamental insights into their more common sporadic equivalents. Using integrative genomics, we recently identified a novel cancer gene known as TMEM127. We discovered that truncating TMEM127mutations are responsible for the development of familial pheochromocytomas, highly vascular tumors of neural crest origin.

Current therapies for children with rhabdomyosarcoma are highly toxic and cause lifelong complications for survivors. In addition, high-risk patients have very poor outcomes. More effective and less toxic therapies are needed for these patients. Fusion-negative rhabdomyosarcoma is the more common rhabdomyosarcoma, characterized by frequent cancer-causing mutations in genes called the Ras family genes. We and others have shown that interventions targeting a signaling pathway called the Mitogen Activated Protein Kinase pathway would benefit patients with fusion-negative rhabdomyosarcoma.

Background

My research interest is a cancer called rhabdomyosarcoma, and specifically the alveolar variant. Alveolar rhabdomyosarcoma is an aggressive childhood tumor that is difficult to treat when the disease goes beyond the primary site and is virtually incurable when widely metastatic.