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Carmen Sapienza, PhD

Carmen Sapienza, PhD


Professor, Fels Institute for Cancer Research and Molecular Biology

Professor, Pathology and Laboratory Medicine

Telephone:  215-707-7373

Fax:  215-707-6989

Email: sapienza@temple.edu


Fels Institute for Cancer Research and Molecular Biology

Department of Pathology and Laboratory Medicine


Educational Background:


PhD (1982), Dalhousie University (Halifax, Nova Scotia, Canada)


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Research Interests:


The long-term goals of the laboratory are to determine the relative contributions of genetic and environmental factors, including aging, to epigenetic variation in the human population and the role of this variation in human phenotypic diversity.


Because most common human diseases are thought to result from both heritable and environmental factors and their interaction, the laboratory seeks to determine whether environmental factors interact with an individual’s genome by altering epigenetic marks. One of the most potentially disruptive environments to which human beings are exposed is the in vitro culture conditions associated with assisted reproductive techniques (in vitro fertilization and intracytoplasmic sperm injection). Epidemiological studies suggest that children born through assisted reproduction are at substantially increased risk for several rare diseases associated with defects in epigenetic marking of the genome. We have demonstrated that children conceived in vitro have multiple DNA methylation and gene expression differences when compared with their in vivo-conceived counterparts. Such differences are modest in size but are also associated with important quantitative phenotypes, such as birth weight. We are continuing our epigenetic analysis of critical genes in the growth and insulin signaling pathways and examining their relationship to environmental variables intrinsic to in vitro conception.


We also have an interest in determining how the environment, including dietary factors, might contribute to colon cancer. We have demonstrated that the normal colon mucosa of cancer patients differs epigenetically from the colon mucosa of patients without cancer. Moreover, the genes that appear to be affected preferentially are those involved in lipid and carbohydrate metabolism and result in alterations in glucose metabolism and insulin signaling. These observations suggest a mechanistic connection between the observed association of obesity and high fat diets with colon cancer incidence. We are attempting to replicate these findings in additional patients, as well as test an animal model in which “metabolic syndrome” drugs may be tested for effects on the epigenotype.


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Recent Medically Related Publications, Obtained from PubMed (Click on PubMed ID to view abstract)

26566672. Ghosh J, Mainigi M, Coutifaris C, Sapienza C, Outlier DNA methylation levels as an indicator of environmental exposure and risk of undesirable birth outcome. Hum Mol Genet :()2015 Nov 12

25901188. Song S, Ghosh J, Mainigi M, Turan N, Weinerman R, Truongcao M, Coutifaris C, Sapienza C, DNA methylation differences between in vitro- and in vivo-conceived children are associated with ART procedures rather than infertility. Clin Epigenetics 7:1(41)2015

25779370. Gardner KR, Sapienza C, Fisher JO, Genetic and epigenetic associations to obesity-related appetite phenotypes among African-American children. Pediatr Obes :()2015 Mar 16

24806665. Cesaroni M, Powell J, Sapienza C, Validation of methylation biomarkers that distinguish normal colon mucosa of cancer patients from normal colon mucosa of patients without cancer. Cancer Prev Res (Phila) 7:7(717-26)2014 Jul

22920179. Latham KE, Sapienza C, Engel N, The epigenetic lorax: gene-environment interactions in human health. Epigenomics 4:4(383-402)2012 Aug

22498030. Turan N, Ghalwash MF, Katari S, Coutifaris C, Obradovic Z, Sapienza C, DNA methylation differences at growth related genes correlate with birth weight: a molecular signature linked to developmental origins of adult disease? BMC Med Genomics 5:(10)2012 Apr 12

22300984. Silviera ML, Smith BP, Powell J, Sapienza C, Epigenetic differences in normal colon mucosa of cancer patients suggest altered dietary metabolic pathways. Cancer Prev Res (Phila) 5:3(374-84)2012 Mar

21150313. Sapienza C, Lee J, Powell J, Erinle O, Yafai F, Reichert J, Siraj ES, Madaio M, DNA methylation profiling identifies epigenetic differences between diabetes patients with ESRD and diabetes patients without nephropathy. Epigenetics 6:1(20-8)2011 Jan

20661447. Turan N, Katari S, Gerson LF, Chalian R, Foster MW, Gaughan JP, Coutifaris C, Sapienza C, Inter- and intra-individual variation in allele-specific DNA methylation and gene expression in children conceived using assisted reproductive technology. PLoS Genet 6:7(e1001033)2010 Jul 22

20083905. Turan N, Katari S, Coutifaris C, Sapienza C, Explaining inter-individual variability in phenotype: is epigenetics up to the challenge? Epigenetics 5:1(16-9)2010 Jan 1

19605411. Katari S, Turan N, Bibikova M, Erinle O, Chalian R, Foster M, Gaughan JP, Coutifaris C, Sapienza C, DNA methylation and gene expression differences in children conceived in vitro or in vivo. Hum Mol Genet 18:20(3769-78)2009 Oct 15

19229137. Engel N, Tront JS, Erinle T, Nguyen N, Latham KE, Sapienza C, Hoffman B, Liebermann DA, Conserved DNA methylation in Gadd45a(-/-) mice. Epigenetics 4:2(98-9)2009 Feb 16

19129515. Hao L, Vassena R, Wu G, Han Z, Cheng Y, Latham KE, Sapienza C, The unfolded protein response contributes to preimplantation mouse embryo death in the DDK syndrome. Biol Reprod 80:5(944-53)2009 May

18562704. Han Z, Mtango NR, Patel BG, Sapienza C, Latham KE, Hybrid vigor and transgenerational epigenetic effects on early mouse embryo phenotype. Biol Reprod 79:4(638-48)2008 Oct

17204629. Sapienza C, Molecular biology. Do Watson and Crick motor from X to Z? Science 315:5808(46-7)2007 Jan 5

16839189. Sandovici I, Kassovska-Bratinova S, Vaughan JE, Stewart R, Leppert M, Sapienza C, Human imprinted chromosomal regions are historical hot-spots of recombination. PLoS Genet 2:7(e101)2006 Jul

16172501. Bell TA, de la Casa-Esperón E, Doherty HE, Ideraabdullah F, Kim K, Wang Y, Lange LA, Wilhemsen K, Lange EM, Sapienza C, de Villena FP, The paternal gene of the DDK syndrome maps to the Schlafen gene cluster on mouse chromosome 11. Genetics 172:1(411-23)2006 Jan

15972727. Sandovici I, Kassovska-Bratinova S, Loredo-Osti JC, Leppert M, Suarez A, Stewart R, Bautista FD, Schiraldi M, Sapienza C, Interindividual variability and parent of origin DNA methylation differences at specific human Alu elements. Hum Mol Genet 14:15(2135-43)2005 Aug 1

15868680. Latham KE, Sapienza C, Developmental potential as a criterion for understanding and defining embryos. Conn Law Rev 36:4(1171-6)2004 Summer

15744049. Wu G, Hao L, Han Z, Gao S, Latham KE, de Villena FP, Sapienza C, Maternal transmission ratio distortion at the mouse Om locus results from meiotic drive at the second meiotic division. Genetics 170:1(327-34)2005 May

15483220. Gao S, Wu G, Han Z, de la Casa-Esperón E, Sapienza C, Latham KE, Recapitulation of the ovum mutant (Om) phenotype and loss of Om locus polarity in cloned mouse embryos. Biol Reprod 72:2(487-91)2005 Feb

15338278. Sandovici I, Naumova AK, Leppert M, Linares Y, Sapienza C, A longitudinal study of X-inactivation ratio in human females. Hum Genet 115:5(387-92)2004 Oct

14616065. de la Casa-Esperón E, Sapienza C, Natural selection and the evolution of genome imprinting. Annu Rev Genet 37:(349-70)2003

12812984. Sandovici I, Leppert M, Hawk PR, Suarez A, Linares Y, Sapienza C, Familial aggregation of abnormal methylation of parental alleles at the IGF2/H19 and IGF2R differentially methylated regions. Hum Mol Genet 12:13(1569-78)2003 Jul 1

12196408. de La Casa-Esperón E, Loredo-Osti JC, Pardo-Manuel de Villena F, Briscoe TL, Malette JM, Vaughan JE, Morgan K, Sapienza C, X chromosome effect on maternal recombination and meiotic drive in the mouse. Genetics 161:4(1651-9)2002 Aug

12149520. Sapienza C, Imprinted gene expression, transplantation medicine, and the "other" human embryonic stem cell. Proc Natl Acad Sci U S A 99:16(10243-5)2002 Aug 6

11309665. Pardo-Manuel de Villena F, Sapienza C, Recombination is proportional to the number of chromosome arms in mammals. Mamm Genome 12:4(318-22)2001 Apr

11214904. Pardo-Manuel de Villena F, Sapienza C, Transmission ratio distortion in offspring of heterozygous female carriers of Robertsonian translocations. Hum Genet 108:1(31-6)2001 Jan

11102708. Pardo-Manuel de Villena F, de la Casa-Esperón E, Sapienza C, Natural selection and the function of genome imprinting: beyond the silenced minority. Trends Genet 16:12(573-9)2000 Dec

10790402. Pardo-Manuel De Villena F, de La Casa-Esperón E, Williams JW, Malette JM, Rosa M, Sapienza C, Heritability of the maternal meiotic drive system linked to Om and high-resolution mapping of the Responder locus in mouse. Genetics 155:1(283-9)2000 May

10628994. Pardo-Manuel de Villena F, de la Casa-Esperon E, Briscoe TL, Malette JM, Sapienza C, Male-offspring-specific, haplotype-dependent, nonrandom cosegregation of alleles at loci on two mouse chromosomes. Genetics 154:1(351-6)2000 Jan

10628993. de la Casa-Esperon E, Pardo-Manuel de Villena F, Verner AE, Briscoe TL, Malette JM, Rosa M, Jin WH, Sapienza C, Sex-of-offspring-specific transmission ratio distortion on mouse chromosome X. Genetics 154:1(343-50)2000 Jan

10628992. Pardo-Manuel de Villena F, de la Casa-Esperon E, Briscoe TL, Sapienza C, A genetic test to determine the origin of maternal transmission ratio distortion. Meiotic drive at the mouse Om locus. Genetics 154:1(333-42)2000 Jan

10337624. Pardo-Manuel de Villena F, de la Casa-Esperón E, Verner A, Morgan K, Sapienza C, The maternal DDK syndrome phenotype is determined by modifier genes that are not linked to Om. Mamm Genome 10:5(492-7)1999 May

9887372. Naumova AK, Olien L, Bird LM, Smith M, Verner AE, Leppert M, Morgan K, Sapienza C, Genetic mapping of X-linked loci involved in skewing of X chromosome inactivation in the human. Eur J Hum Genet 6:6(552-62)1998 Nov-Dec

9585588. Naumova AK, Leppert M, Barker DF, Morgan K, Sapienza C, Parental origin-dependent, male offspring-specific transmission-ratio distortion at loci on the human X chromosome. Am J Hum Genet 62:6(1493-9)1998 Jun

9449675. Latham KE, Sapienza C, Localization of genes encoding egg modifiers of paternal genome function to mouse chromosomes one and two. Development 125:5(929-35)1998 Mar

9271664. Pardo-Manuel de Villena F, Naumova AK, Verner AE, Jin WH, Sapienza C, Confirmation of maternal transmission ratio distortion at Om and direct evidence that the maternal and paternal "DDK syndrome" genes are linked. Mamm Genome 8:9(642-6)1997 Sep

8651287. Naumova AK, Plenge RM, Bird LM, Leppert M, Morgan K, Willard HF, Sapienza C, Heritability of X chromosome--inactivation phenotype in a large family. Am J Hum Genet 58:6(1111-9)1996 Jun

8846906. Pardo-Manual de Villena F, Slamka C, Fonseca M, Naumova AK, Paquette J, Pannunzio P, Smith M, Verner A, Morgan K, Sapienza C, Transmission-ratio distortion through F1 females at chromosome 11 loci linked to Om in the mouse DDK syndrome. Genetics 142:4(1299-304)1996 Apr

8565326. Naumova AK, Olien L, Bird LM, Slamka C, Fonseca M, Verner AE, Wang M, Leppert M, Morgan K, Sapienza C, Transmission-ratio distortion of X chromosomes among male offspring of females with skewed X-inactivation. Dev Genet 17:3(198-205)1995

8565324. Sapienza C, Genome imprinting: an overview. Dev Genet 17:3(185-7)1995

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