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

  • 5106 McDonnell Pediatric Research Building



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

  • Gene discovery, variant interpretation using high-throughput functional assays

Research Abstract:

Precision medicine has been largely hampered by the large numbers of variants of uncertain significance harbored in each of our genomes. Dr Gurnett`s laboratory is interested in developing and applying new methods for determining the functional effects of every possible variant in a human gene. This information will have immediate clinical utility for understanding which variants contribute to disease risk, and will undoubtedly provide substantial insight into protein function. The laboratory also is involved in disease gene discovery for a variety of musculoskeletal and neurogenetic disorders. The subjects for this research come from the Washington University Pediatric Musculoskeletal DNA database that contains >6000 samples from individuals with musculoskeletal disorders and their family members.

Selected Publications:

Haller G, Alvarado D, McCall K, Mitra RD, Dobbs MB, Gurnett CA. Massively parallel single-nucleotide mutagenesis using reversibly terminated inosine. Nat Methods. 2016 Oct 3;PubMed

Haller G, Alvarado D, Mccall K, Yang P, Cruchaga C, Harms M, Goate A, Willing M, Morcuende JA, Baschal E, Miller NH, Wise C, Dobbs MB, Gurnett CA. A polygenic burden of rare variants across extracellular matrix genes among individuals with adolescent idiopathic scoliosis. Hum Mol Genet. 2016 Jan 1;25(1):202-9.

Buchan JG, Alvarado DM, Haller GE, Cruchaga C, Harms MB, Zhang T, Willing MC, Grange DK, Braverman AC, Miller NH, Morcuende JA, Tang NL, Lam TP, 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 Oct 1;23(19):5271-82.

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 Jun;42(10):e82.

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: 7/27/2018 11:12:53 AM

Back To Top

Follow us: