The Division of Pediatric Neurology faculty provide research in a variety of areas. Specific research interests include:

Dr. Kathy Mathews began with using genetic linkage, then a putative mouse model, to identify the gene causing facioscapulohumeral dystrophy. She closed her laboratory in 2000 due to increasing clinical and administrative demands, and her current academic efforts have been focused on improving the quality of care for patients with neuromuscular disease. She has maintained an active interest in the impact of molecular genetics on neuromuscular diseases (diagnosis, pathophysiology and treatment). She has served on NIH and CDC working groups to define the direction of research on neuromuscular disease in the future. She has become increasingly involved in collaborative clinical research efforts, many of which are laying a groundwork for clinical trials.

Dr. Mathews is 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. She is a 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. This 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. She is 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.

Dr. Dan Bonthius does research on central nervous system development and the factors that can disrupt it. He focuses his research on two neuroteratogenic agents: alcohol (fetal alcohol syndrome) and lymphocytic choriomeningitis virus (congenital LCMV infection). Investigating the cellular and molecular mechanisms underlying alcohol- and LCMV-induced injury to the developing brain, the behavioral consequences of these injuries, and therapeutic agents to minimize or reverse the injuries.

The development of gene therapy for neurological diseases. In particular, he is exploring the use of viral gene therapy vectors for the treatment of Alexander Disease, a devastating genetic disease of the pediatric brain.

Dr. Alexander Bassuk focuses research on congenital defects of the nervous system, especially neural tube defects, familial epilepsy, neurogenetics, neural stem cell biology.

His laboratory is interested in understanding the basic mechanisms underlying both normal and disordered development of the nervous system. His laboratories approach to these issues includes investigating the genetics of human neural tube defects (NTDs) and familial epilepsies, and elucidating the biology regulating neural stem cell development. The techniques used in his laboratory include genome wide linkage analysis (GWA), association studies, comparative genomic hybridization (CGH), copy number variation (CNV) analysis, transgenic mouse production, and cell culture. As part of his studies he has collected DNA samples from over 2000 patients and family members with congenital nervous system malformations, and several large families with autosomal recessive epilepsy syndromes.

Dr. Bahri Karacay conducts research on the abnormalities of developing nervous system caused by two neuroteratogenic agents; alcohol, (fetal alcohol syndrome) and lymphocytic choriomeningitis virus (congenital LCMV infection). Development of gene therapy for neuroblastoma, a childhood cancer of the nervous system and Alexander Disease, a disease of cerebral white matter that affects children.