Researchers solve medical mystery of deadly illness in young child (Links to an external site)

New research from Washington University School of Medicine in St. Louis has solved the medical mystery of why a 2-year-old child — seemingly healthy at birth — succumbed to an undiagnosed, rare illness. On the left is normal lung tissue showing air sacs with thin cell layers for the exchange of oxygen and carbon dioxide. On the right is the patient's lung tissue. Because of a mutation in the RAB5B gene, the walls of the air sacs are thick and unable to participate in gas transfer.

New research from Washington University School of Medicine in St. Louis has solved the medical mystery of why a 2-year-old child — seemingly healthy at birth — succumbed to an undiagnosed, rare illness. The research team identified a previously unknown genetic cause of interstitial lung disease, providing answers to the parents and doctors puzzled by […]

Diagnostic odyssey (Links to an external site)

Jason and Amy Lair with their son, James, 8, on the family farm near Alexis, Ill. The Undiagnosed Diseases Network discovered a genetic variant that inhibits James’ growth.

When you seek medical care, you expect a diagnosis. You may need to answer a lot of questions and undergo tests, but usually doctors can figure out the root of the problem.

Garwood honored with Walentik leadership award (Links to an external site)

Sarah Garwood

The Missouri Foundation for Health has honored Sarah Garwood, MD, with the 2021 Dr. Corinne Walentik Leadership in Health award. Garwood, an associate professor of pediatrics at Washington University School of Medicine, is medical director of the school-based health center called The SPOT at Jennings High School, which she helped establish in 2015. The center offers comprehensive […]