Diagnostic Pathology

Mass Spectrometry: Amyloid Diagnostic Tests and Other Application

Mass spectrometry (MS) is an analytical technique that accurately measures the mass-to-charge ratio of different molecules within a sample. MS is becoming an increasingly important tool in biomedical research. Clinician-scientists in the Montefiore Einstein Pathology Department are currently involved in cross-campus collaborations focused on the research and development of mass spectrometry applications in Clinical Pathology.

A major research highlight is the development of a diagnostic test for Amyloidosis sub-typing by mass spectrometry. This project is a collaborative effort between the Pathology Department, the Laboratory for Macromolecular Analysis and Proteomics, and the Weiler Clinical Mass Spectrometry Laboratory. Amyloidosis is a rare disease caused by abnormal deposition of misfolded proteins which forms “amyloid” fibrils that can accumulate in different organs and can lead to organ failure or malfunction. The correct identification of the amyloid protein subtype is critical in determining the type of treatment for this disease. There are about 30 different sub-types, depending on the specific amyloid protein, that can be successfully identified and diagnosed by mass spectrometry. The group invites inquiries from other investigators interested in potential collaborative projects aimed at the translation of basic biomarker research into diagnostic tests that can be developed and implemented at Einstein-Montefiore’s mass spectrometry laboratories. Contact Dr. Jennifer Aguilan at: jennifer.aguilan@einsteinmed.org