Items Tagged ‘Brendan Lanpher’
February 10, 2021
Researchers define best practices of genome sequencing for patients with rare diseases
Genome sequencing has shown promise in becoming a first-tier diagnostic test for patients with rare genetic disorders, but standards addressing the definition and deployment of a best-in-class test are lacking. Two recent manuscripts published in npj Genomic Medicine present consensus recommendations on clinical genome sequencing analytical validation and clinical utility to diagnose patients with suspected genetic diseases, including practical advice for […]
Tags: Brendan Lanpher, Center for Individualized Medicine, clinical research, Department of Laboratory Medicine and Pathology, Eric Klee, genetic testing, genetics, genomics, Hutton Kearney, Ross Rowsey
February 22, 2018
Three strikes, then a home run: Paige’s path to a diagnosis
Paige Whorton’s zeal for life is infectious. “I like parasailing, exploring, and zip lining — daredevil stuff,” she says with a giggle. However, pain in her joints, building for years, was slowing her down. “My bones and joints would hurt when I would run. I couldn’t do anything fun with friends. It was more like, […]
Tags: Brendan Lanpher, Center for Individualized Medicine, Erin Conboy, Filippo Pinto e Vairo, genetic testing, genomics