Philip Giampietro
Professor of Pediatrics
M.D. SUNY/Stony Brook School of Medicine 1982
Ph.D. Mount Sinai School of Medicine Biomedical Sciences Doctoral Program
Address: 351 Waisman Center
Telephone: 262-6858
E-mail: pfgiampietro@pediatrics.wisc.edu
Research Interests:
Congenital Vertebral Malformations, Congenital and Idiopathic Scoliosis, Birth Defects
Research Description: The development of the spine is a complex process which is governed by the interaction of genes associated with the WNT, Notch Signaling and FGF pathways. I am interested in the genetic etiology of congenital vertebral malformations (CVMs), which occur with an estimated frequency of .5-1/1,000. CVMs such as hemivertebrae may give rise to congenital scoliosis. Vertebral fusion defects such as Klippel-Feil syndrome can cause neck pain and cosmetic disfigurement. Environmental exposures such as alcohol, maternal diabetes and anticonvulsant medications such as valproic acid may be associated with CVMs. Our working hypothesis is that CVMs may be caused by a combination of genetic and environmental factors. Knowledge of gene X environment interactions is important to develop strategies to help prevent their occurrence. We are in the process of identifying subjects with CVM and performing microarray analysis to identify candidate regions associated with CVMs.
We also are studying idiopathic scoliosis (IS). We have recently identified a region on chromosome 12p with a maximum LOD score of 3.7 associated with IS for a dominant model, and a maximum LOD score of 3.2 associated with a recessive model. This region contains approximately 95 genes. We are in the process of collecting family trios and using transmission disequilibrium testing to narrow down this region. We are hypothesizing that this region may be associated with clinical outcome in IS.
Representative Publications:
- Giampietro PF, Dunwoodie SL, Kusumi K, Pourquie O, Tassy O, Offiah A, Cornier AS, Alman BA, Blank RD, Raggio CL, Glurich I and Turnpenny PD. (2009) Progress in the Understanding of the Genetic Etiology of Vertebral Segmentation Disorders in Humans. Ann N Y Acad Sci. 1151:38-67.
- Raggio CL, Giampietro PF, Dobrin D, Zhao C, Dorshorst D, Ghebranious N, Weber JL and Blank RD. (2009). A Novel Locus for Adolescent Idiopathic Scoliosis on Chromosome 12p. J Orthop Res. 27:1366-72.
- Ghebranious N, Blank RD, Raggio C, Staubli J, McPherson E, Ivacic L, Rasmussen K, Jacobsen FS, Faciszewski T, Burmester JK, Pauli RM, Boachie-Adjei O, Glurich I and Giampietro PF. (2008). A Missense T(Brachyury) Mutation Contributes to Vertebral Malformations. J Bone Miner Res. 23:1576-1583.
- Giampietro PF, Raggio CL, Reynolds CE, Ghebranious N, Burmester JK, Glurich IE, Rasmussen K, McPherson EW, Pauli RM, Shukla SK, Merchant S, Jacobsen FS, Faciszewski T and Blank RD. (2006). DLL3 as a candidate gene for vertebral malformations. Am J Med Genet A. 140:2447-53.
Professor of Pediatrics
M.D. SUNY/Stony Brook School of Medicine 1982
Ph.D. Mount Sinai School of Medicine Biomedical Sciences Doctoral Program
Address: 351 Waisman Center
Telephone: 262-6858
E-mail: pfgiampietro@pediatrics.wisc.edu
Research Interests:
Congenital Vertebral Malformations, Congenital and Idiopathic Scoliosis, Birth Defects
The development of the spine is a complex process which is governed by the interaction of genes associated with the WNT, Notch Signaling and FGF pathways. I am interested in the genetic etiology of congenital vertebral malformations (CVMs), which occur with an estimated frequency of .5-1/1,000. CVMs such as hemivertebrae may give rise to congenital scoliosis. Vertebral fusion defects such as Klippel-Feil syndrome can cause neck pain and cosmetic disfigurement. Environmental exposures such as alcohol, maternal diabetes and anticonvulsant medications such as valproic acid may be associated with CVMs. Our working hypothesis is that CVMs may be caused by a combination of genetic and environmental factors. Knowledge of gene X environment interactions is important to develop strategies to help prevent their occurrence. We are in the process of identifying subjects with CVM and performing microarray analysis to identify candidate regions associated with CVMs. We also are studying idiopathic scoliosis (IS). We have recently identified a region on chromosome 12p with a maximum LOD score of 3.7 associated with IS for a dominant model, and a maximum LOD score of 3.2 associated with a recessive model. This region contains approximately 95 genes. We are in the process of collecting family trios and using transmission disequilibrium testing to narrow down this region. We are hypothesizing that this region may be associated with clinical outcome in IS.
