Montgomery Lab

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Genes determine your height, hair color and even, in some cases, whether or not you will get certain diseases. Much of what scientists know about human disease today has been learned from the study of genetics, and in my lab we focus on how genes can trigger the onset of disease, make disease worse or even why they express themselves differently in one person versus another. In particular, we study the roles genes play in auto-immune and auto-inflammatory diseases.

While I began my career in the field of cancer genetics, I never lost ties to the work I began as a graduate student in genetics of the immune system. I now direct the Sarcoidosis Research Unit and lead projects focused on understanding the genetic and environmental risk factors of sarcoidosis. This “medical mystery” occurs when small nodules called granulomas form in and around organs. Our goal is to better understand the risk factors of sarcoidosis so that we can better diagnose, treat and even prevent disease.

My laboratory is focused on the identification of genes predisposing to complex diseases, particularly sarcoidosis, an inflammatory disorder that can affect any organ in the body.  It is characterized by growths called granulomas, much like those found in people with Tuberculosis. Patients can have granulomas in the liver, lymph glands, bone marrow, even the brain, but are most frequently diagnosed because of granulomas in the lungs. The disease can resolve on its own or can be chronic, leading to severe health problems. We know that sarcoidosis can run in families, but we also know that certain environmental exposures increase the risk of disease in certain people with a particular genetic background. For example, sarcoidosis is more prevalent in women and, in the United States, African Americans are both more commonly and more severely affected than Caucasians.

It is the goal of my laboratory to not only find the genes that make someone susceptible to disease but also to understand why the disease is worse in some patients compared to others.  Specifically, our studies have led the way in the genetics of sarcoidosis for over a decade and now focus on understanding how genes cause particular cells within the immune system to respond in such a way to make granulomas form.

We are so thankful to the patients that participate in our research clinics and share not only their time and participate in our studies, but also share their amazing stories with us!


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