Dr Philip Giampietro

Dr Philip Giampietro – Klippel-Feil Syndrome Alliance

Dr Philip Giampietro is a geneticist with more than 20 years of experience in medical care and research. Dr. Giampietro earned his medical degree at the State University of New York – Stony Brook, and completed residencies at State University of New York – Stony Brook University Hospital and Long Island Jewish Medical Center. He also completed a fellowship in medical genetics at Weill Medical College of Cornell University.



Dr. Giampietro believes that medical science has made great progress in the discovery of disease causing genes which improves understanding of disease processes (how they occur and the impact they have on patients’ lives).

He further believes, as the KFSA does, that by giving families knowledge about their (child’s) condition, they can be empowered to take a lead role in their medical care decisions. The KFSA believes this is especially true in rare or poorly understood conditions such as KFS. Dr. Giampietro also believes that understanding the causal factors associated with KFS can help lead to prevention and treatment strategies for KFS.

Selected publications

Offiah A, Alman B, Cornier AS, Giampietro PF, Tassy O, Wade A, Turnpenny PD. Pilot Assessment of a Radiologic Assessment Classification System for Segmentation Defects of the Vertebrae. Am J Med Genet A. 2010 Jun;152A(6):1357-71.

Ghebranious N, Blank RD, Raggio C, Staubli J, McPherson E, Ivacic L, Rasmussen K, Jacobsen F Stig, Faciszewski T, Burmester JK, Pauli RM , Boachie-Adjei O, Glurich I, Giampietro PF. A Missense T(Brachyury) Mutation Contributes to Vertebral Malformations. J Bone Miner Res 2008; 23: 1576-1583.

Giampietro PF, Raggio CL, Blank RD, Reynolds CE, Shukla SK, McPherson E, Ghebranious N, Jacobsen FS, Kumar V, Faciszewski T, Pauli RM, Rasmussen K, Burmester JK, Zaleski C, Merchant S, David D, Weber, JL, Glurich I . An analysis of PAX1 in the development of vertebral malformations. Clin Genet. 2005 Nov;68(5):448-53.

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