Titles
Director, Division of Pediatric Neurology
Departments of Pediatrics and Neurology
Associate Professor
Education
BS – University of Iowa; 1976
MD – University of Iowa; 1981
Postgraduate Training
Pediatric Residency – University of Iowa
Neurology Residency – University of Iowa
Child Neurology Fellowship – University of Iowa
Genetics Fellowship – University of Iowa
Clinical Interests
Child Neurology and Neuromuscular Diseases
Research Interests
My research career began with using genetic linkage, then a putative mouse model, to identify the gene causing facioscapulohumeral dystrophy. I closed my laboratory in 2000 due to increasing clinical and administrative demands, and my current academic efforts have been focused on improving the quality of care for patients with neuromuscular disease. I have maintained an active interest in the impact of molecular genetics on neuromuscular diseases (diagnosis, pathophysiology and treatment). I have served on NIH and CDC working groups to define the direction of research on neuromuscular disease in the future. I have become increasingly involved in collaborative clinical research efforts, many of which are laying a groundwork for clinical trials.
I am currently a co-PI (with Paul Romitti, PhD) on the Iowa MDSTARnet project, a CDC sponsored, multi-center Duchenne/Becker Muscular Dystrophy surveillance and epidemiology project. I am co-PI on one project of the University of Iowa’s NIH funded Wellstone Center, directed by Kevin Campbell, PhD and Steve Moore, MD, PhD. My project involves defining the phenotypes of patients with FRKP mutations and will extend nationwide. This clinical project was a key component of this successful NIH application. I am also the Iowa PI in the United Dystrophinopathy project; a genotype-phenotype study headed by Dr. Kevin Flanigan at the University of Utah and recently funded by the NIH.
Research Team
Carrie Stephan, BSN
Karla Laubenthal, PT
Model System
in vitro cell culture model, animal model, human trials, translational research, health services research
Recent Publications
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