Dr. Diskin's research is focused on translational genomics in childhood cancers. Her laboratory seeks to identify the genetic basis of childhood cancers by combining quantitative computational methods with rigorous "wet-lab" experimental approaches. In parallel, she has developed, and is applying, a proteogenomic approach to identify novel immunotherapeutic targets for high-risk and relapsed pediatric malignancies.
Dr. Ischiropoulos's research objectives are to develop and test novel therapeutics for long-chain fatty acid oxidation (LCFA) disorders, a collection of inherited metabolic diseases that affect the heart, liver and muscle. A second area of interest is the resolution of the nitric oxide signaling pathways at the proteome level in the cardiovascular and neuronal systems.
Dr. McCormack investigates the intersection of neuroendocrinology and metabolism. Her translational research program involves two areas. The first involves studying those with genetic disorders, including primary mitochondrial diseases and Friedreich's ataxia, with characterized risk for diabetes mellitus. Second, Dr. McCormack focuses on brain disorders associated with excess weight gain, including brain tumor-related hypothalamic obesity syndrome and idiopathic intracranial hypertension.
Dr. Tong investigates cytokine receptor signaling in normal and neoplastic hematopoietic development. She uses integrated approaches encompassing biochemistry, molecular biology, mouse models, and primary human samples to understand signaling events emanating from cytokine receptors that regulate the development of hematopoietic stem/progenitor cells.
Dr. Akizu's research focuses on cerebellar ataxias and motoneuron disorders, with the specific goals of uncovering the particularities of these neuronal types, understanding disease mechanisms, and exploring treatment options.
Dr. Maris investigates the molecular and genetic mechanisms contributing to the development and progression of neuroblastoma, a common childhood cancer. He also aims to develop new molecular diagnostic tests and less toxic, targeted therapies to treat relapsed or refractory neuroblastoma, including a major effort in immunotherapy discovery and development.
Dr. Kelly’s research career began with deciphering the genetic basis of inborn errors in metabolism in children, followed by a series of breakthrough discoveries relevant to the diagnosis and treatment of common forms of heart failure in the general population.