Genetics

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

Fragile X syndrome is a common X-linked genetic condition and the most common heritable form of intellectual disability.

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).

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.

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.

ARUP Consult^®, a free source of laboratory testing information for clinicians, released several new and updated resources in August.

ARUP Consult^®, a free source of laboratory testing information for clinicians, released several new and updated resources in July.

ARUP Laboratories’ Access and Reimbursement Manager Valerie Collier, MS, CGC, will be featured as an expert panelist in a special upcoming Dark Report webinar on June 29.

Members of the Biochemical Genetics laboratory gather for a photo.

ARUP Associate Medical Director Steven Baker, MD, PhD, will lead research that aims to determine whether gene therapies can be developed to treat patients living with creatine transporter deficiency (CTD).

Rong Mao, MD, FACMG, has been elected to the American College of Medical Genetics and Genomics (ACMG) Foundation board of directors. Her two-year term will begin with the ACMG annual meeting on March 14, 2023.