Breakthrough Sarcoidosis Initiative

Lindsay Celada, PhD, Baylor College of Medicine

Celada’s project is investigating the role of two groups of immunological cells that are dysregulated in pulmonary sarcoidosis. A specific molecular pathway may lead to more severe cases of sarcoidosis, and the research group will explore this using cells from sarcoidosis patients. Understanding which sarcoidosis patients will develop severe symptoms has been a longstanding challenge in sarcoidosis, and this project could be a significant step in stratifying patient risk.

Shu-Yi Liao, MD, National Jewish Health

Liao’s project is focusing on understanding sarcoidosis small fiber neuropathy, which causes chronic pain in sarcoidosis patients and has proven difficult to track and treat. The research group seeks to study the metabolism of people living with this condition to find molecular biomarkers that can be associated with their existing clinical information. This project could help the field better assess and take care of individuals living with sarcoidosis small fiber neuropathy.

Landon Locke, PhD, Ohio State University

Locke’s project is examining how granulomas, the hallmark of sarcoidosis, can address immunological threats. While sarcoidosis can be debilitating, the granulomas that form could provide some protection against other threats, like bacteria. Using biological samples from individuals living with sarcoidosis, Locke’s team will study how sarcoidosis granulomas impact bacteria’s ability to multiply and examine a specific molecular pathway that may be involved in the process. This project can potentially reveal how granulomas form and how they interact with certain biological threats.

Jonas Schupp, MD, Hannover Medical School

Schupp’s project will develop a molecular “atlas” for sarcoidosis, which will map gene activity at the cellular level in samples from individuals living with sarcoidosis. The team will use samples from a variety of organs afflicted with sarcoidosis and compare them to other granulomatous conditions. The group plans to make this atlas a free online tool for other researchers. This tool would not only strengthen understanding of the differences between sarcoidosis in various organs and other conditions but also provide a powerful resource for the field.

Thomas Weichhart, PhD, Medical University of Vienna

Weichhart’s project is making use of a mouse model of sarcoidosis and patient samples to understand how a specific protein that integrates environmental signals, metabolism, and immune responses, mTORC1, promotes granuloma formation. The team will examine gene activity and immune cell responses using these approaches and assess sarcoidosis severity across several organs in the mouse. This project could help tease apart the complicated steps that lead to granuloma formation in sarcoidosis, potentially indicating a therapeutic target.

Shaikh Atif, PhD, University of Colorado, Anschutz Campus

Atif’s project seeks to examine the role of Aspergillus nidulans, a common airborne fungus, in the development of Löfgren Syndrome (LS), an acute form of sarcoidosis. This fungus has been found in some individuals with LS and is suspected to play a role in its development. Additionally, Atif seeks to create a mouse model of lung inflammation using Aspergillus nidulans that can be used for future studies.

Jonathan Chrispin, MD, Johns Hopkins University

Chrispin’s project is set to develop an algorithm that can use heart images and electrical recordings to predict a person’s risk of sudden cardiac death. Sarcoidosis can take root in the heart, and sudden cardiac death is a serious risk once it does. As of now, there are few predictors of which individuals are more likely to suffer in this way. This project could pave the way for doctors to better understand when medical intervention is needed.

Alejandro Pezzulo Colmenares, MD, University of Iowa

Pezzulo Colmenares’ study uses a noninvasive method to assess how cells from individuals living with sarcoidosis respond at a genetic level. Typically, cells are obtained directly from the organ in question, but this study will use nasal cells to assess these questions, which is a new approach. The genetic differences seen in these cells will be related to a person’s prognosis. This study could provide a noninvasive method of learning more about sarcoidosis moving forward.

Ravi Karra, MD, Duke University

Karra’s project is focused on better understanding how granulomas, which are the hallmark of sarcoidosis, form in the condition. An immune response will be triggered that will lead to localized granuloma formation in the skin of individuals living with sarcoidosis. At different points in time, the granuloma will be sampled to understand the genetic changes that occur during granuloma formation and the genetic features that put a person at risk for developing sarcoidosis.

Laura Koth, MD, University of California, San Francisco

Koth’s project seeks to determine whether molecular factors that indicate immune cell exhaustion and genetic aging can be correlated to sarcoidosis patient outcomes. The same molecular factors have been shown to be relevant to idiopathic pulmonary fibrosis, a disease that causes lung scarring. Individuals living with lung sarcoidosis will have their lungs scanned and blood samples obtained, and a prognostic model will be developed. This model could be used to better assess who is at a higher risk for worse outcomes with lung sarcoidosis.

Li Li, MD, PhD, National Jewish Health

Li’s project sets out to better understand how genetic modifications affect sarcoidosis progression and severity. The study will obtain blood samples from individuals living with sarcoidosis and study a specific genetic alteration across the entire genome. These findings will be used to determine if modifications on certain genes convey greater risk than others and will be related to findings from idiopathic pulmonary fibrosis, which shares some clinical characteristics. This study could provide a better understanding of which genes convey more risk for sarcoidosis development and severity.