Home >> ALL ISSUES >> 2015 Issues >> In genetics, stay open to the unexpected

In genetics, stay open to the unexpected

image_pdfCreate PDF

William Check, PhD

July 2015—When Uta Francke, MD, received the Association for Molecular Pathology Award for Excellence in Molecular Diagnostics at the 2014 AMP meeting, she titled her lecture “Adventures in Disease Gene Identification and Characterization of Mutations.” Her title was appropriate for a research clinician who, during her 35-year career, while working on several major human genetic disease challenges, contributed in significant ways to our understanding of important genetic disease mechanisms and whose laboratory identified the gene for Wiskott-Aldrich syndrome.

Iris Schrijver, MD, who is one of her past trainees, speaks of Dr. Francke’s “passion for research” and her “many groundbreaking discoveries.”

“Her research has advanced our understanding of molecular mechanisms of many inherited conditions,” among them Marfan, Rett, Prader-Willi, and Williams-Beuren syndromes, says Dr. Schrijver, director of the molecular pathology laboratory at Stanford University Medical Center and a professor of pathology and pediatrics, Stanford University School of Medicine. She tells CAP TODAY: “Uta pioneered how research testing could be translated to the clinical arena. In that sense she helped shape molecular diagnostics.”

CAP TODAY
X