Our Labs

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.

Research profile

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.

Research profile

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.

Research profile

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.

Research profile

Patients with the genetic disorder Neurofibromatosis Type 1 (NF1) are at increased risk for multiple neurodevelopmental abnormalities, including brain tumor development and impaired cognition. In the Brossier lab, we are interested in identifying how genetic, neurodevelopmental and environmental factors modulate risk of developing these phenotypes in NF1, as well as in the broader pediatric population. We utilize murine models of NF1 as platform for investigation, with an eye towards developing new patient risk assessment strategies and identifying new targets for therapeutic intervention.  Using this approach, we have identified maternal exposure to an obesogenic Western-style diet as a risk factor for glioma formation and growth.

Research profile

Our research team studies brain development, brain injury, and neurodevelopmental outcomes of children with congenital heart disease.

Research profile

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

Research profile

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.

Research profile

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.

Research profile

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