Advanced Proteomic Profiling of Histiocytic Neoplasms: Uncovering Biomarkers and Mechanistic Insights for Enhanced Diagnosis and Therapeutic Strategies

Eli Diamond, MD

Oshrat Hershkovitz-Rokah, PhD

Year Awarded: 2026
Amount: $60,000
Study Length: 2 years

Dr. Oshrat Hershkovitz-Rokah was awarded a grant to study the proteins found in the blood of people living with ECD and other histiocytic disorders. The aim is to bring the community closer to improved diagnostic capabilities and to better understand the disease biology of ECD. The goal is to improve clinical outcomes for patients.

She explains her research as follows. In our research, we aim to study thousands of proteins from a small blood sample and compare them to their expression in tissues. If DNA is the body’s instruction book, proteins are the molecules that actually do the work. By looking at proteins, we can better understand what is happening in the body in real time. These protein data will be integrated with genomic and epigenetic data to provide a more complete understanding of the disease.

Today, diagnosis and follow-up of histiocytic neoplasms often rely on biopsies and imaging tests, which can be complex and difficult for patients. Our goal is to identify a unique “disease signature” in the blood that may help, in the future, to diagnose the disease earlier, monitor disease activity, understand organ involvement – including organs that are difficult to biopsy, such as the brain – and guide more personalized treatment decisions.

Dr. Hershkovitz-Rokah says, “For me, this grant is much more than scientific support. It is an opportunity to move one step closer to better answers for patients with Erdheim-Chester disease and other rare histiocytic disorders. I am especially grateful to the ECD Global Alliance, to the patients and families, and to my collaborators in the US and France. This grant is an important step toward turning advanced molecular research into meaningful progress for patients and families affected by these rare and complex diseases.”