H. Robert (Bob) Bergen III, Ph.D., is developing novel clinical tests utilizing mass spectrometry as a detector. This work has involved the analysis of serum proteins associated with carbohydrate-deficient glycoprotein syndrome (associated with transferrin), familial amyloidosis (associated with transthyretin) and simultaneous quantitation and variant identification in alpha-1-antitrypsin deficiency.
Dr. Bergen developed a proteomics-based test to identify the pathological protein in amyloid plaques using laser capture microdissection to isolate the protein from tissue biopsies. Correct identification of the amyloid protein allows for a variety of appropriate treatments, including liver transplantation or chemotherapy, highlighting the importance of correct diagnosis.
- Mass spectrometry-based clinical tests. Dr. Bergen utilizes mass spectrometry to analyze proteins and peptides useful for the diagnosis and characterization of disease. This work includes the analysis of intact proteins, post-translational modifications and small polypeptides. His laboratory has been successful in translating mass spectrometry-based analyses into clinical assays for the characterization of proteins related to disease.
- Multiple myeloma. Measurement of minimal residual disease (MRD) in multiple myeloma currently requires a bone marrow biopsy for sensitive diagnosis. Dr. Bergen is developing a sensitive MRD test using only a venous blood sample, thus avoiding the cost and pain of the bone marrow sample collection process.
- Biomarker discovery. Additional ongoing research involves developing new tools to detect low abundance proteins indicative of disease. Low abundance proteins will be the most successful candidates for early detection of disease.
Significance to patient care
Correct diagnosis is the first step in treatment of any disease. Mass spectrometry affords diagnostic tests with excellent sensitivity, specificity and precision. Development of these tests will allow more accurate diagnosis, and detection of disease remission. Additionally, mass spectrometry allows multiple analytes — for example, multiple disease markers — to be measured during the course of one analysis.