Philip Giampietro, MD, PhD, FACMG
Section Chief of Medical Genetics
Asok K. Ray, MD, FRCS (Edin) and Purnima Ray Professor in Pediatrics
Department of Pediatrics
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About Heading link
The endowed professorship of Dr. Philip Giampietro is focused on genetically determined disease research and care management, with a particular emphasis on programs related to the genetics of congenital bone disease. Dr. Giampietro’s clinical expertise is in Dysmorphology; Connective Tissue Disorders. Dr. Giampietro is also a clinical geneticist in the Department of Pediatrics at UI Health. As part of a team of genetic counselors, Dr. Giampietro provides clinical genetics consults for patients with concerns regarding inherited disorders, including disorders affecting growth; autism; cognitive disability; birth defects; craniofacial disorders; neurocutaneous disorders; auditory and visual disorders; inherited renal and cardiac disorders; and disorders of connective tissue. The genetics team uses state of the art genomic technology to assist with obtaining diagnoses for our patients.
Research Interests Heading link
Unraveling the Genetic Contributions to Congenital Scoliosis and vertebral malformations: Idiopathic and congenital scoliosis (CS) are conditions that are frequently encountered by genetics professionals. Patients affected by these conditions are concerned about prognosis, associated health conditions, and recurrence risks. Recent developmental genetic studies of the spine, genome-wide association studies, and whole exome/genome analysis aid in understanding the genetic etiology of idiopathic and congenital scoliosis. With the identification of mutations in TBX6 accounting for approximately 10% of CS, the genetic etiology for the vast majority of vertebral malformations (VMs) and CS awaits discovery. We hypothesize the existence of novel genes and phenotypes associated with these conditions. Fetal exposures such as anticonvulsants, hyperthermia, fumonisins, maternal diabetes and alcohol use have been reported to be associated with the development of VMs. Genetically mediated environmental exposures mediated by mutations in the NAD pathway have been shown to be a recent cause for VMs. Clinical Importance of VM
Recent Publications Heading link
- Martin E, Enriquez A, Sparrow DB, Humphreys DT, McInerney-Leo AM, Leo PJ, Duncan EL, Iyer KR, Greasby JA, Ip E, Giannoulatou E, Sheng D, Wohler E, Dimartino C, Amiel J, Capri Y, Lehalle D, Mory A, Wilnai Y, Lebenthal Y, Gharavi AG, Krzemien GG, Miklaszewska M, Steiner RD, Raggio C, Blank R, Baris Feldman H, Milo Rasouly H, Sobreira NLM, Jobling R, Gordon CT, Giampietro PF, Dunwoodie SL, Chapman G. Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice. Human molecular genetics. 2020;29(22):3662-78. Epub 2020/12/05. doi: 10.1093/hmg/ddaa258. PubMed PMID: 33276377; PMCID: PMC7823106.
- Alankarage D, Enriquez A, Steiner RD, Raggio C, Higgins M, Milnes D, Humphreys DT, Duncan EL, Sparrow DB, Giampietro PF, Chapman G, Dunwoodie SL. Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors. Differentiation. 2022 Nov-Dec;128:1-12. doi: 10.1016/j.diff.2022.09.002. Epub 2022 Sep 24. PMID: 36194927. PMCID
- Al Dhaheri N, Wu N, Zhao S, Wu Z, Blank RD, Zhang J, Raggio C, Halanski M, Shen J, Noonan K, Qiu G, Nemeth B, Sund S, Dunwoodie SL, Chapman G, Glurich I, Steiner RD, Wohler E, Martin R, Sobreira NL, Giampietro PF. KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations. Am J Med Genet A. 2020 Jul;182(7):1664-1672. doi: 10.1002/ajmg.a.61607. Epub 2020 May 5. PMID: 32369272; PMCID: PMC8128026.
- Shin TH, Theodorou E, Holland C, Yamin R, Raggio CL, Giampietro PF, Sweetser DA. TLE4 Is a Critical Mediator of Osteoblast and Runx2-Dependent Bone Development. Front Cell Dev Biol. 2021 Aug 6;9:671029. doi: 10.3389/fcell.2021.671029. PMID: 34422801; PMCID: PMC8377417.