Genetics

The identification of skeletal dysplasia symptoms creates a great worry for expectant parents, especially when they learn that some skeletal dysplasias are not compatible with long-term survival.

The difference between a blood sample and a lung tissue sample is significant. Until recently, this was not a choice for patients suspected of having a rare form of pulmonary hypertension.

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.