Pezzulo, Hamzeh aim to improve sarcoidosis diagnoses, reveal disease mechanisms

Alejandro Pezzulo Colmenares, MD, assistant professor in Pulmonary, Critical Care, and Occupational Medicine, and Nabeel Hamzeh, MD, associate professor in Pulmonary, Critical Care, and Occupational Medicine, received a two-year, $575,000 grant from the Ann Theodore Foundation Breakthrough Sarcoidosis Initiative (ATF-BSI). Utilizing their respective epithelial biology and sarcoidosis expertise, the duo will study the obstacles to diagnosis and predictions for how the disease could develop.

Sarcoidosis is an inflammatory disease that can affect all organs and remains a large burden on the lives of patients. A relatively uncommon condition, this complicated condition still affects nearly 2.3 million US citizens, primarily women of color. Physicians can struggle to diagnose sarcoidosis, as well as to trace its origin or predict its outcome.

“Once a patient is diagnosed with sarcoidosis, there is currently no way to predict whether they will improve spontaneously, or progress to persistent disease, and even death,” Pezzulo said.

Although the cause of sarcoidosis is unknown, some people may develop sarcoidosis when exposed to environmental triggers such as pollution or microorganisms. Pezzulo and Hamzeh will study the airway epithelial cells that first encounter inflammatory substances from the environment.

Whereas formal sarcoidosis diagnose requires invasive biopsies, Pezzulo and Hamzeh will explore novel non-invasive cell sampling protocols, culture methods and genomics. They will study how the airway epithelial cells respond to inflammatory substances in healthy people and people with sarcoidosis.

“Sarcoidosis-specific responses will be explored to develop diagnostic and prognostic biomarkers, better understand disease mechanisms, and identify novel therapeutic targets,” Hamzeh said. “Moreover, the project will generate a biobank of samples to share with the sarcoidosis research community.”

In last fall’s call for proposals, the Milken Institute in collaboration with the Ann Theodore Foundation announced they would award a total of $3.5 million in funding to four to six studies aiming to advance sarcoidosis research.

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