Research

Research highlights will include applications of RNA sequencing, long-read whole genome sequencing, and cytogenetics in the identification of rare and undiagnosed diseases, confirmation of novel variants, the curation of standardized reports for pharmacogenetics testing, and more.

Tracy I. George, MD, ARUP Laboratories’ chief scientific officer and president of the Innovation Business Unit, detailed ARUP’s commitment to cutting-edge diagnostic research during a Rare Disease Day event hosted at Recursion on February 27. The podium featured a zebra, the mascot of people with rare diseases. 

Peng Li, MD, PhD, ARUP medical director, seeks to increase awareness to the newly discovered VEXAS syndrome with a recently published blog and paper.

Visit booth #2455 at the American Society of Hematopathology (ASH) Annual Meeting and Exposition to speak with ARUP hematopathologists and learn about the latest in laboratory testing for hematologic diseases.

Presentations by ARUP medical directors and scientists at AMP 2024 included timely topics in molecular pathology such as automated DNA extraction. Melanie Mallory, MS, pictured above, a lead bioinformatics scientist at ARUP, presented a poster related to the prediction of viral loads for cytomegalovirus.

A new test that ARUP offers for preeclampsia risk measures the ratio between two angiogenic factors (sFlt-1 and PlGF) that are produced by the placenta and are involved in the pathophysiology of preeclampsia.

The Tasso+ self-collection device can be shipped directly to patients, facilitating remote collection of whole blood samples and eliminating the need for lab visits.

Presenters include Kimberly Hanson, MD, MHS; David Ng, MD; Patricia Slev, PhD, D(ABCC); Tammy Smith, MD, PhD; and Nicholas Spies, MD.

The research grant is named in honor of retired ARUP CEO Sherrie Perkins, MD, PhD, whose leadership laid the groundwork for ARUP’s increased focus on innovation.

Presentations and posters will cover topics such as mycobacterial infections, increasing rates of macrolide drug resistance, the state of parasitology following the COVID-19 pandemic, and more.

ARUP survey shows “profound” concern within the lab community about the FDA’s proposed rule.

ARUP medical directors and scientists, including (from left to right) Sherin Shaaban, MD, PhD, FACMG; Yuan Ji, PhD, MBA, DABCP, FACMG; and Hunter Best, PhD, FACMG, along with others, will present their latest research and share insights for current and future geneticists at the Annual Clinical Genetics Meeting in March.