Washington University School of Medicine

Christina Gurnett, MD, PhD

Dr Gurnett received her MD and PhD degrees from the University of Iowa, where she studied brain and skeletal muscle ion channel physiology with Howard Hughes Medical Institute Investigator, Kevin Campbell, PhD. She completed pediatric neurology residency and Pediatric Epilepsy fellowships at Washington University in St Louis. She is board certified in Neurology with special qualification in Pediatric Neurology, and is also board certified in Clinical Neurophysiology. She is a member of the American Epilepsy Society, the American Society of Human Genetics, and sits on the Professional Advisory Board of the Epilepsy Foundation, St Louis Chapter. In 2004, she received the Fritz Dreifuss Award for research from the National Epifellows Foundation. She was the recipient of the Early Career Award of the American Epilepsy Society/Milken Family Foundation in 2005. In 2007, she established her laboratory at Washington University with support from the Children's Discovery Institute.

Our laboratory is interested in discovering the genetic basis of musculoskeletal and neurological disorders. Our research currently focuses on gene discovery for idiopathic clubfoot and adolescent idiopathic scoliosis, two conditions whose etiology is currently unknown. This research utilizes the large volume of patients with well-characterized musculoskeletal disease at St Louis Children's Hospital in collaborative clinical and basic science studies. Linkage studies using high density SNP microarray data are currently being performed, with future plans to perform genome-wide association studies.

Through this approach, our laboratory recently identified a mutation in the homeodomain-containing transcription factor PITX1 that causes clubfoot and a variety of limb abnormalities in a large family. Environmental and genetic modifiers of the PITX1 phenotype are now being analyzed in mouse models of human. Other projects in the laboratory include genetic study of several large families with familial sleepwalking, and a large Indiana Amish family with multiple sclerosis and Hodgkins lymphoma.

Medical Training

Christina Gurnett was raised in Iowa City, Iowa. She received a B.S. in Biology from the University of Notre Dame in 1991. As a member of the Medical Scientist Training Program at the University of Iowa, she studied the subunit structure of voltage dependent calcium channels at the Howard Hughes Medical Institute under Dr. Kevin Campbell. After receiving her M.D. and PhD. Degrees from the University of Iowa in 1998, she completed two years of Pediatrics Residency at the same institution. She came to St. Louis in 2000 and received training in Adult and Pediatric Neurology at Washington University. She completed a fellowship in Pediatric Epilepsy at the St Louis Children's Hospital Pediatric Epilepsy Center in 2004. She is certified by the American Board of Psychiatry and Neurology in Neurology with Special Competence in Child Neurology.

Selected Publications

Alvarado DM, Aferol H, McCall K, Huang JB, Techy M, Buchan J, Cady J, Gonzales PR, Dobbs MB, Gurnett CA. Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4, Am J Hum Genet, 2010, 87(1):154-160.

Gurnett CA, Desruisseau DM, McCall K, Choi R, Meyer ZI, Talerico M, Miller SE, Ju JS, Pestronk A, Connolly AM, Druley TE, Weihl CC, Dobbs MB. Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. Hum Mol Genet, 2010; 19(7):1165-73.

Hill DA, Ivanovich J, Priest JR, Gurnett CA, Dehner LP, Desruisseau D, Jarzembowski JA, Wikenheiser-Brokamp KA, Suarez BK, Whelan AJ, Williams G, Bracamontes D, Messenger Y, Goodfellow PJ. DICER1 mutations in familial pleuropulmonary blastoma, Science, 2009, 325(5943):965.

Gurnett CA, Alaee F, Kruse LM, Desruisseau DM, Hecht JT, Wise CA, Bowcock AM, Dobbs MB. Asymmetric lower limb malformations in individuals with homeobox PITX1 gene mutations, Am J Hum Genet, 2008; 83(5):616-22.

Kruse L, Dobbs MB, Gurnett CA. Polygenic threshold model with gender dimorphism in clubfoot inheritance: The Carter effect, J Bone Joint Surg Am. 2008, 90(12):2688-94.

Gurnett CA, Alaee F, Bowcock AM, Kruse L, Lenke LG, Bridwell KH, Kukio T, Luhmann SJ, Dobbs MB, Genetic linkage localizes the adolescent idiopathic scoliosis and pectus excavatum gene to chromosome 18q, Spine, 2009, 34(2):E94-100.