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Using whole exome sequencing, Rong Mao, MD, and Pinar Bayrak-Toydemir, MD, PhD, discovered a new genetic mutation on the PIEZ01 gene linked to hemolytic anemia with autosomal dominant inheritance.
For a patient battling lung cancer, the discomforts and risks of undergoing repeated biopsies, surgeries, and radiologic scans can now be replaced by a far less invasive method.
Whitney Wooderchak-Donahue, PhD, was one of six recipients worldwide to receive the grant award from Cure HHT, an international organization that supports HHT patients and their families.
ARUP Laboratories, the University of Utah, and the U Huntsman Cancer Institute are spearheading an effort to acquire genetic knowledge with the creation of the open-source BRCA1 and BRCA2 database.
