Labs by division

The laboratory focuses on genomic medicine and functional genomics, implementing experimental and informatics approaches to solve a fundamental problem in human genetics, namely the overwhelming number of Variants of Uncertain Significance (VUS) generated via exome and genome sequencing.

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The overarching goal of our lab is to identify how mechanical stress impacts upon cell and protein function in the cardiovascular system, while advancing tools to diagnose and treat disease.

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My research has centered on understanding the signals that direct early B cell development. Specifically, over the last several years, we have focused on understanding how signals induced by DNA damage impact developmental signals in B cells. B cell development occurs through a carefully regulated process that centers on the generation of a mature, non-autoreactive antigen receptor. To produce a mature antigen receptor, B cells must intentionally generate and repair DNA breaks in the antigen receptor genes. The creation of these DNA breaks is highly regulated by cooperative signaling from two surface proteins, the pre-B cell receptor (pre-BCR) and the interleukin-7 receptor. Together these two signals control cell cycle proliferation and arrest, induction of genes required for antigen receptor gene rearrangement, and cell viability.

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Avraham Beigelman's clinical and research interests include childhood asthma and food allergy. Specifically, the lab is interested in the research of asthma among pre-school children. Among these young children, he is investigating the factors that modulate disease activity, and the approaches for treatment of acute wheezing episodes. Currently, the lab's main research project is investigating whether we can prevent recurrent wheezing and potentially asthma, following severe RSV bronchiolitis. In addition, Beigelman is a co-investigator in the NHLBI's AshmaNet network, which is a multi-centered network investigating therapeutic approaches to childhood asthma.

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We study how viruses disrupt the immune system and contribute to autoimmune disease. Millions of people suffer from autoimmunity and the prevalence continues to rise. For most autoimmune diseases, the cause is unknown but viral infections are suspected to play a role. Despite this link, there is limited data demonstrating a direct causal role for viral infections in autoimmune disease. We have found that neonatal infection with roseolovirus induces autoimmunity by disrupting the processes that normally limit the development of autoreactive T and B cells. Our initial studies suggest that this occurs due to infection of the thymus.

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The Child Health and Education Laboratory focuses on children with chronic illness, specifically those with Sickle Cell Disease (SCD) or brain tumors.

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Neutrophils play a key role in host defense and have an ever-expanding list of roles in health and disease. However, neutrophil dysregulation can lead to catastrophic inflammation. In the intensive care unit, neutrophil dysfunction contributes to pathology in many diseases including sepsis, organ transplant, acute lung injury and stroke.

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The Cooper lab is focused on mechanisms of immune cell control, including regulation of natural killer cell activation and molecular mechanisms driving pediatric immune-mediated disease.

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The DeBosch laboratory uses mouse genetic, physiological, cell biological and multi-omic techniques to understand the signaling pathways that are activated downstream of blocking hepatocyte glucose transporters. We found that inhibiting hepatocyte glucose transport and the adaptive responses that are engaged are sufficient to convey key aspects of the physiological response to caloric restriction. This includes upregulation of hepatic fat oxidation, autophagy and secretion of the anti-diabetic peptide — FGF21. Our goal is to understand and then utilize these responses to treat metabolic diseases, including non-alcoholic fatty liver disease, cardiovascular disease and type 2 diabetes mellitus.

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The Di Paola lab, headed by Jorge Di Paola, MD, comprises a diverse group of physician scientists, geneticists, bioinformaticists, and basic scientists. Advances in technology and decreases in costs of whole-genome sequencing have enabled us to pursue innovative approaches to discovering the genetic and biological determinants of a variety of conditions. We extend the scope of our research through both national and international collaboration. Using state of the art equipment and techniques, we aim to set the stage for the development of novel therapies to improve quality of life for those living with bleeding and thrombotic disorders.

Research profile