July 20, 2021
By Susan Murphy
Rochester, Minn. — Mayo Clinic researchers have discovered that genetic variants in a neuro-associated gene called SPTBN1 are responsible for causing a neurodevelopmental disorder. The study, published in Nature Genetics, is a first step in finding a potential therapeutic strategy for this disorder, and it increases the number of genes known to be associated with conditions that affect […]
Tags: Center for Individualized Medicine, gene mutation, genetics, genomics, Margot Cousin, neurosciences
September 19, 2017
CARING FOR KARTER–Genetic sleuths never give up hunt to identify Minnesota boy’s condition
Karter Malcomson coos and swivels his head when he hears his name in his mother’s reassuring voice. “You know we’re talking about you, don’t you?” Karter’s mom, Kerrie, says. “Karter is a very happy boy. He’s very content. He’s very interested in everything, especially people. He’s definitely a people person.” His father, Zane, spins Karter […]
Tags: Center for Individualized Medicine, Charu Kaiwar, clinical informatics, collaboration, Eric Klee, genetic testing, genomics, Gianrico Farrugia, health sciences research, Margot Cousin, Nicole Boczek, Pavel Pichurin