Penelope E Bonnen, Ph.D., B.S.
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Penelope E Bonnen, Ph.D., B.S.
Associate Professor
Positions
- Associate Professor
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Molecular and Human Genetics
Baylor College of Medicine
Houston, Texas United States
- Associate Professor
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Molecular Physiology & Biophysics
Baylor College of Medicine
Houston, Texas United States
- Faculty Member
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Computational and Integrative Biomedical Research Center
Baylor College of Medicine
Houston, Texas United States
- Faculty Member
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Program in Structural & Computational Biology and Molecular Biophysics
Baylor College of Medicine
Houston, Texas United States
- Faculty Senator
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Baylor College of Medicine
Houston, Texas United States
- Member
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Dan L Duncan Comprehensive Cancer Center
Baylor College of Medicine
Houston, Texas United States
Education
- BS from Texas A&M University
- 01/1993 - College Station, Texas United States
- PhD from Baylor College Of Medicine
- 01/2002 - Houston, TX United States
- Post-Doctoral Fellowship at The Rockefeller University
- 01/2007 - New York, NY United States
Professional Interests
- Functional genomics, bioinformatics, metabolomics and human genetics of mitochondrial and metabolic disease.
Professional Statement
Personalized genomics to identify genes causing Mitochondrial DiseaseMitochondrial disease has an incidence of 1/5000 and can affect every organ system. Childhood-onset mitochondrial disease most often results from recessive mutations in the nuclear genome; however, the vast majority of cases remain without a molecular diagnosis and no effective treatments, thus underscoring the critical need to identify the genetic aberrations driving these disorders. We are leveraging a personalized functional genomics approach combining genome-wide sequencing, mitochondrial functional profiling in patient cells and functional genomics to identify validated novel mitochondrial disease genes. This project will significantly advance the diagnosis and treatment of mitochondrial disease, as well as provide new insights into the mechanisms underlying the pathology of mitochondrial respiratory chain disorders and commonly occurring conditions associated with mitochondrial dysfunction such as cancer, diabetes and neurodegeneration.
Websites
Selected Publications
- Besse A, Wu P, Bruni F, Donti T, Graham BH, Craigen WJ, McFarland R, Moretti P, Lalani S, Scott KL, Taylor RW, Bonnen PE "The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism." Cell Metab. 2015 Mar 3;21:417-27. Pubmed PMID: 25738457
- Bonnen PE, Yarham JW, Besse A, Wu P, Faqeih EA, Al-Asmari AM, Saleh MA, Eyaid W, Hadeel A, He L, Smith F, Yau S, Simcox EM, Miwa S, Donti T, Abu-Amero KK, Wong LJ, Craigen WJ, Graham BH, Scott KL, McFarland R, Taylor RW "Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance." Am J Hum Genet. 2013 Sep 5;93(3):471-81. Pubmed PMID: 23993193
- Craigen WJ, Graham BH, Wong LJ, Scaglia F, Lewis RA, Bonnen PE "Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology." BMC Med Genet. 2013 Aug 16;14:83. Pubmed PMID: 23947751
- Bacino CA, Dhar SU, Brunetti-Pierri N, Lee B, Bonnen PE "WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype." Am J Med Genet A. 2012;158(11):2917-24. Pubmed PMID: 22987818
- Bacino CA, Arriola LA, Wiszniewska J, Bonnen PE "WDR62 missense mutation in a consanguineous family with primary microcephaly." Am J Med Genet A. 2012 Mar;158(3):622-5. Pubmed PMID: 22308068
- International HapMap 3 Consortium "Integrating common and rare genetic variation in diverse human populations." Nature. 2010 Sep 2;467(7311):52-8. Pubmed PMID: 20811451
- Bonnen PE, Lowe JK, Altshuler DM, Breslow JL, Stoffel M, Friedman JM, Pe'er I "European admixture on the Micronesian island of Kosrae: lessons from complete genetic information." Eur J Hum Genet. 2010 Mar;18(3):309-16. Pubmed PMID: 19844264
- Bonnen PE, Pe'er I, Plenge RM, Salit J, Lowe JK, Shapero MH, Lifton RP, Breslow JL, Daly MJ, Reich DE, Jones KW, Stoffel M, Altshuler D, Friedman JM "Evaluating potential for whole-genome studies in Kosrae, an isolated population in Micronesia." Nat Genet. 2006 Feb;38(2):214-7. Pubmed PMID: 16429162
- Bonnen PE, Wang PJ, Kimmel M, Chakraborty R, Nelson DL "Haplotype and linkage disequilibrium architecture for human cancer-associated genes." Genome Res. 2002;12(12):1846-53. Pubmed PMID: 12466288
- Bonnen PE, Story MD, Ashorn CL, Buchholz TA, Weil MM, Nelson DL "Haplotypes at ATM identify coding-sequence variation and indicate a region of extensive linkage disequilibrium." Am J Hum Genet. 2000;67(6):1437-51. Pubmed PMID: 11078475
Memberships
- American Society of Human Genetics
- Member
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