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Molecular and Human Genetics

Houston, Texas

Department of Molecular and Human Genetics
Department of Molecular and Human Genetics
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Penelope E. Bonnen, Ph.D.

Penelope E. Bonnen, Ph.D.Assistant Professor of Molecular and Human Genetics

Other Positions

Assistant Professor, Department of Molecular Physiology & Biophysics; Computational and Integrative Biomedical Research Center; Human Genome Sequencing Center; Program in Structural & Computational Biology and Molecular Biophysics


B.S., Texas A&M University, 1993
Ph.D., Baylor College of Medicine, 2002
Postdoc, Rockefeller University, 2008

Professional Organizations

Member, American Society of Human Genetics

Research Interests

Personalized genomics to identify genes causing Mitochondrial Disease

Mitochondrial 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.

Selected Publications

  1. 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 (2013). Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance. Am. J. Hum. Genet. 93(3): 471-81. PubMed PMID: 23993193
  2. Craigen WJ, Graham BH, Wong LJ, Scaglia F, Lewis RA, Bonnen PE (2013). Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology. BMC Med. Genet. 14: 83. PubMed PMID: 23947751
  3. Bacino CA, Dhar SU, Brunetti-Pierri N, Lee B, Bonnen PE (2012). WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype. Am. J. Med. Genet. A 158A(11): 2917-24. PubMed PMID: 22987818
  4. Bacino CA, Arriola LA, Wiszniewska J, Bonnen PE (2012). WDR62 missense mutation in a consanguineous family with primary microcephaly. Am. J. Med. Genet. A 158A(3): 622-5. PubMed PMID: 22308068
  5. International HapMap 3 Consortium, Altshuler DM, Gibbs RA, Peltonen L, Altshuler DM, Gibbs RA, Peltonen L, Dermitzakis E, Schaffner SF, Yu F, Peltonen L, Dermitzakis E, Bonnen PE, Altshuler DM, Gibbs RA, de Bakker PI, Deloukas P, Gabriel SB, Gwilliam R, Hunt S, Inouye M, Jia X, Palotie A, Parkin M, Whittaker P, Yu F, Chang K, Hawes A, Lewis LR, Ren Y, Wheeler D, Gibbs RA, Muzny DM, Barnes C, Darvishi K, Hurles M, Korn JM, Kristiansson K, Lee C, McCarrol SA, Nemesh J, Dermitzakis E, Keinan A, Montgomery SB, Pollack S, Price AL, Soranzo N, Bonnen PE, Gibbs RA, Gonzaga-Jauregui C, Keinan A, Price AL, Yu F, Anttila V, Brodeur W, Daly MJ, Leslie S, McVean G, Moutsianas L, Nguyen H, Schaffner SF, Zhang Q, Ghori MJ, McGinnis R, McLaren W, Pollack S, Price AL, Schaffner SF, Takeuchi F, Grossman SR, Shlyakhter I, Hostetter EB, Sabeti PC, Adebamowo CA, Foster MW, Gordon DR, Licinio J, Manca MC, Marshall PA, Matsuda I, Ngare D, Wang VO, Reddy D, Rotimi CN, Royal CD, Sharp RR, Zeng C, Brooks LD, McEwen JE (2010). Integrating common and rare genetic variation in diverse human populations. Nature 467(7311): 52-8. PubMed PMID: 20811451
  6. Bonnen PE, Lowe JK, Altshuler DM, Breslow JL, Stoffel M, Friedman JM, Pe'er I (2010). European admixture on the Micronesian island of Kosrae: lessons from complete genetic information. Eur. J. Hum. Genet. 18(3): 309-16. PubMed PMID: 19844264
  7. 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 (2006). Evaluating potential for whole-genome studies in Kosrae, an isolated population in Micronesia. Nat. Genet. 38(2): 214-7. PubMed PMID: 16429162
  8. Bonnen PE, Wang PJ, Kimmel M, Chakraborty R, Nelson DL (2002). Haplotype and linkage disequilibrium architecture for human cancer-associated genes. Genome Res. 12(12): 1846-53. PubMed PMID: 12466288
  9. Bonnen PE, Story MD, Ashorn CL, Buchholz TA, Weil MM, Nelson DL (2000). Haplotypes at ATM identify coding-sequence variation and indicate a region of extensive linkage disequilibrium. Am. J. Hum. Genet. 67(6): 1437-51. PubMed PMID: 11078475

Contact Information

Penelope E. Bonnen, Ph.D.
Department of Molecular and Human Genetics
Baylor College of Medicine
One Baylor Plaza
Mail Stop: BCM226
Houston, TX, 77030, U.S.A.

Phone: 713-798-4256
Fax: 713-798-6977

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