Our Labs

The Rubenstein lab focuses on the mechanisms by which small molecules may improve the function of mutant proteins that cause disease due to abnormal biogenesis and trafficking. These studies initially focused on epithelial ion channels relevant to Cystic Fibrosis, and have expanded to address fundamental biologic questions related to the regulation of protein biogenesis and trafficking in a number of other diseases and conditions.

Research profile

Our laboratory is interested in elucidating the molecular signaling mechanisms of liver regeneration. In addition to liver mass being precisely regulated in proportion to body mass, this organ is also able to regenerate the anatomic and functional deficits incurred by many forms of injury or disease (e.g. toxin exposure, trauma, infection). We use rodent partial hepatectomy and other models to investigate the mechanisms responsible for this remarkable regenerative potential, and have focused our recent efforts on defining and investigating the functional relevance of extrahepatic signals that influence regulation of liver mass and regeneration. In addition, we began a translational line of investigation in which lessons learned about liver regeneration in this basic model are applied to analyses of human liver diseases. Such studies led us to identify a novel metabolomic marker of liver regeneration and evaluate its utility in predicting clinical outcomes in pediatric acute liver failure.

Research profile

The laboratory uses genetics, cell biology, and systems biology approaches to study how the cell regulates its metabolic programs and how dysfunctions in these programs lead to neurological disease. Our ultimate goal is to translate knowledge of these regulatory networks into therapeutic approaches for neurodegenerative disorders.

Research profile

The Schuettpelz Lab is interested in understanding how inflammatory signals regulate hematopoietic stem cells (HSC). In particular, we are studying the role of toll-like receptor (TLR) signaling in HSCs. Our lab is currently using mouse models to better define the role of individual TLRs in regulating HSC function. In addition, we are exploring the connection between enhanced TLR signaling and myelodysplastic syndrome (MDS) through the use of various mouse models of this disease.

Research profile

Our laboratory focuses on the cell and molecular biology of intracellular protein targeting and degradation.

Research profile

Our goal is to deliver personalized gut microbiome-based risk assessment and antibiotic stewardship for pediatric sepsis.

Research profile

My academic focus is on the development of safer less toxic methods of hematopoietic stem cell transplantation in children. Toward this, I am investigating reduced intensity transplantation for children with hemoglobinopathy (sickle cell disease and thalassemia) using the best available related or alternate donors.

Research profile

The research of Marwan Shinawi, MD, focuses on clinical genomics and the application of exome and genome sequencing as well as microarray analysis for disease gene discovery of undiagnosed genetic syndromes.

Research profile

The goal of the Stone lab is to promote concepts of precision medicine, technology, and design to the care of individuals suffering from complex endocrine conditions including diabetes, insulin resistance, and obesity. By studying unique individuals, we hope to gain insights into the underlying mechanisms of disease. We hope to translate this information into new treatments for diabetes, obesity, and insulin resistance.

Research profile

Dr. Storch’s research program is devoted to using molecular methods to improve the rapid diagnosis of infections. The infectious agents of choice are those for which existing methods are inadequate, either because the agent cannot be cultivated or because current diagnostic methods are too slow or insufficiently sensitive. The emphasis is on viral and other unconventional agents, in both normal and immunocompromised hosts. Dr. Storch is also interested in pathogen discovery and applications of high-throughput nucleotide sequencing to that process. Dr. Storch’s main current research project is a study of viral causes of fever without focus in young children. He also continues to work on developing and evaluating new molecular diagnostic tests.

Research profile