Christina A. Gurnett, M.D., Ph.D.

Pediatric Neurology
Orthopaedic Surgery

Human and Statistical Genetics Program

  • 314-286-2789

  • 314-286-2723

  • 314-454-4225

  • 8111

  • 5106 McDonnell Pediatric Research Building



  • genetics, genomics, sequencing, exome, development, muscle, arthrogryposis, limb, scoliosis, clubfoot

  • The genetic basis of musculoskeletal diseases affecting children, including scoliosis and limb contractures.

Research Abstract:

Dr Gurnett`s major research interest is the genetic basis of musculoskeletal diseases affecting children, including adolescent idiopathic scoliosis, clubfoot, and arthrogryposis. Gene discovery is facilitated by a variety of genomic methods, including copy number analysis, exome and custom based capture methods for rare variants, and genome-wide association studies. The subjects for this research come from the Washington University Pediatric Musculoskeletal DNA database that contains >3000 samples from individuals with musculoskeletal disorders and their family members. Additional areas of interest are in the genetics of epilepsy, sleepwalking, and multiple sclerosis.

Selected Publications:

Buchan JG, Alvarado DM, Haller GE, Cruchaga C, Harms MB, Zhang TX, Willing MC, Grange DK, Braverman AC, Miller NH, Morcuende JA, Tang, N, Lam T, Ng BK, Cheng JC, Dobbs MB, Gurnett CA. Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis, Hum Mol Genet, 2014, in press.

Alvarado DM, Yang P, Druley TE, Lovett M, Gurnett CA. Multiplexed direct genomic selection (MDiGS): A pooled BAC capture approach for highly accurate CNV and SNP/INDEL detection, Nucleic Acids Res, 2014, in press.

Ha K, Buchan JG, Alvarado DM, McCall K, Vydyanath A, Luther PK, Goldsmith MI, Dobbs MB, Gurnett CA. MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis, Hum Mol Genet, 2013, 22(24):4967-77.

Alvarado DM, Buchan JG, Frick SL, Herzenberg JE, Dobbs MB, Gurnett CA. Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development, Eur J Hum Genet, 2012, 21(4):373-80.

Alvarado DM, McCall K, Aferol H, Silva MH, Garbow JR, Spees WM, Patel T, Siegel M, Dobbs MB, Gurnett CA. PITX1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice, Hum Mol Genet, 2011, 20(20):3943-52.

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 Jul 9;87(1):154-60.

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 19:1165-73.

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, Messinger 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 mutation. Am J Hum Genet 2008 83(5): 616-22.

Last Updated: 8/5/2014 3:43:11 PM

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