Articles

Erica Clyde speaks with attendees at BioHive Live.

Nicola Longo, MD, PhD, has spent more than 20 years at University of Utah Health and ARUP Laboratories treating patients in his clinic and working with wife Marzia Pasquali, PhD, FACMG, to advance the diagnosis of inherited metabolic disorders.

Jan Wintch, CQA(ASQ), senior quality and regulatory affairs specialist, has worked at ARUP since the company was created in 1984. Forty years later, she said she is still learning new things every day.

The American College of Medical Genetics and Genomics (ACMG) recommends whole exome and whole genome sequencing (WES/WGS) be considered as a first- or second-tier test for patients with congenital anomalies (CAs), developmental delay (DD), or intellectual disability (ID).

Come to booth #1038 to see ARUP’s showcase of various suites of neurology laboratory testing and meet ARUP medical directors and experts ready to answer questions.

Michael Pyne, MS, a scientist in ARUP’s R&D Infectious Disease group, performs next generation sequencing (NGS) testing for HIV drug resistance, which is a lab-developed test. 

An expert in TAR DNA-binding protein of 43 kDa (TDP-43), neuropathologist Qinwen Mao, MD, PhD, subspecialty director of Neuropathology at ARUP, is working to identify biomarkers that predict the presence of TDP-43 pathology to contribute to the diagnosis of frontotemporal lobar degeneration (FTLD) and Alzheimer’s disease.

The results of the annual client satisfaction survey show clients’ impressions improved in 2023, building on already positive 2022 results.

ARUP offers returnships for people from a variety of professional backgrounds who have taken a break from their careers for at least one year. Dipanwita Banerjee, MS, associate scientist, benefited from one such program before joining ARUP.

Tracy George, MD (third from right), ARUP’s chief scientific officer and president of the Innovation Business Unit, holds a zebra, the mascot for patients with rare diseases, and poses for a photo with participants in Salt Lake City’s Rare Disease Day event. Pictured, from left to right, are Tanner Withers, parent of a child with a rare disease, Troy Evans, undiagnosed patient with a rare disease, Rebecca Yates, parent of a child with a rare disease, Matt Pearl, patient with a rare disease, Ava and Lucy Szajunk, undiagnosed patients with rare diseases, George, Chris Gibson, PhD, CEO of Recursion, and Kelvyn Cullimore, president and CEO of BioUtah.