Research

Jessica Sudderth, Lab Manager, using biomedical analyzer
Lab manager Jessica Sudderth using biomedical analyzer
Andrew Mullen, PhD Student, processing samples for mass spectrometry
Andrew Mullen, Ph.D. student, processing samples for mass spectrometry

The Division has been involved in clinical research projects involving clinical trials of new therapies, as well as multicenter studies in clinical and molecular genetics. We have been involved in translational research, helping to make a bridge between the basic science researchers in molecular genetics and the patients. 

Our large and varied patient population gives us the ability to conduct studies in several areas. Some of the recent and current studies led by Lewis Waber, M.D., Ph.D., include:

  • Enzyme replacement therapy of Mucopolysaccharidosis Type I and Type VI
  • Role of low protein foods in treatment of PKU
  • Tetrahydrobiopterin in the treatment of disorders of phenylalanine metabolism
Dr. Ralph DeBerardinis
Ralph DeBerardinis, M.D., Ph.D., whose lab studies how cancer cells produce the energy and raw materials needed for growth.

The laboratory of Ralph DeBerardinis, M.D., Ph.D., is interested in understanding the metabolic activities that support cell growth and proliferation in normal cells and in cancer. In order to produce daughter cells, which occur with each round of the cell cycle, cells need to double their biomass (proteins, lipids, and nucleic acids). This is a tremendous challenge requiring energy, building blocks, and the coordination of a large number of metabolic pathways.

Dr. DeBerardinis is exploring the idea that these metabolic activities are orchestrated by growth factor-stimulated signal transduction pathways, which direct cells to take up abundant nutrients and allocate them into the proper metabolic pathways. He wants to understand how signal transduction impacts metabolic fluxes during physiologic states of cell proliferation (e.g., embryogenesis, wound healing, activation of the immune system) and during pathological states (e.g., cancer).

To do this, the DeBerardinis Lab uses a combination of techniques in molecular biology, cell biology, and biochemistry, coupled with metabolic flux analysis using mass spectrometry and nuclear magnetic resonance, and animal models of metabolism and cancer. Current projects include developing imaging probes to identify abnormal metabolic activities in tumors and in children with metabolic diseases.