Stories

VEXAS syndrome is a severe autoinflammatory disease that results in a spectrum of rheumatologic and hematologic conditions. The underlying cause of newly identified VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome — somatic mutations in the UBA1 gene of blood cells — was discovered at the National Institutes of Health (NIH) in 2020. Within six months, Mayo Clinic Laboratories was able to add a UBA1 test to the MayoComplete panel, as the team simultaneously worked on a single gene assay to allow doctors to test specifically for UBA1 mutations to screen patients for VEXAS syndrome. The team opted for a droplet digital PCR test — a novel and highly accurate approach to testing for UBA1 gene mutations.

This week's research roundup feature: Plasma biomarkers for prediction of Alzheimer's disease neuropathologic change.

As a senior product manager for Mayo Clinic Laboratories, Ben Levno supports the neurology segment of specialty testing. While Mayo Clinic physicians have access to our world-renowned neurology testing to diagnose and care for patients, Ben’s job is to increase access to those same resources for providers and patients around the world.

This week's research roundup feature: Utilizing mass spectrometry to detect and isotype monoclonal proteins in urine: Comparison to electrophoretic methods.

CT scans and hiatal/abdominal ultrasounds could not uncover why, whenever he ate steak, Joseph Ducaji experienced severe stomach problems, itchy hives, chills, and nausea. It took specialized testing from Mayo Clinic to unlock a little-known condition caused by a tick bite (and, no, it’s not Lyme disease).

This week's research roundup feature: Clinical and molecular correlates of somatic and germline DDX41 variants in patients and families with myeloid neoplasms.

This week's research roundup feature: Relationship between BCL2 mutations and follicular lymphoma outcome in the chemoimmunotherapy era.

As supervisor of the Tissue Registry Archive, Annette Bjorheim finds purpose in her work to provide archived material for patient testing, education, and research needs.

This week's research roundup feature: Development and validation of an acute respiratory distress syndrome prediction model in Coronavirus Disease 2019: Updated lung injury prediction score.

Since March 2019, Paul Jannetto, Ph.D., director of the Metals Laboratory at Mayo Clinic, along with his colleagues across the enterprise and his laboratory staff, have developed, validated, and implemented an artificial intelligence (AI)-augmented test with algorithms designed to interpret kidney stone FTIR spectra. With more than 90,000 kidney stones analyzed each year at Mayo Clinic, this new AI-assisted test has streamlined lab processes and improved patient care.

This week's research roundup feature: Proprotein Convertase Subtilisin/Kexin Type 6 (PCSK6) is a likely antigenic target in membranous nephropathy and nonsteroidal anti-inflammatory drug use.

Wendy is a clinical laboratory technologist who works in the Hematopathology Morphology Laboratory at Mayo Clinic Laboratories. Although she’s worked with Mayo Clinic since 1989, her greatest passion is serving others throughout the community.

This week's Research Roundup feature: Head-to-head comparison of MR elastography-based liver stiffness, fat Fraction, and T1 relaxation time in identifying at-risk NASH.