Photo of Christine R. Beck, Ph.D.

Christine R. Beck, Ph.D.

Assistant Professor, Genetics and Genome Sciences
Joint Appointment, The Jackson Laboratory for Genomic Medicine
Academic Office Location:
Genetics and Genome Sciences
UConn Health
263 Farmington Avenue
Farmington, CT 06030-6403
Phone: 860-837-2173
Email: cbeck@uchc.edu
Website(s):

Laboratory Page

Genetics and Developmental Biology Graduate Program

Education
DegreeInstitutionMajor
B.S.Iowa State UniversityBiochemistry
Ph.D.University of MichiganHuman Genetics

Post-Graduate Training
TrainingInstitutionSpecialty
PostdoctoralBaylor College of MedicineResearch Fellow, Laboratory of Dr. James R. Lupski, M.D., Ph.D., Department of Molecular & Human Genetics

Awards
Name of Award/HonorAwarding Organization
NIH Brain Disorders and Development Training Program (Post-doctoral, 2012-2013)Baylor College of Medicine, Houston, Texas
Neel FellowshipUniversity of Michigan Department of Human Genetics, Ann Arbor, Michigan
ASHG Trainee Award Semi-FinalistAmerican Society of Human Genetics Annual Meeting, Honolulu, Hawaii
NIH Genome Science Training Program (Pre-doctoral, 2008-2011)University of Michigan, Ann Arbor, Michigan
Anita and Howard Cramer Scholarship AwardUniversity of Michigan Department of Human Genetics, Ann Arbor, Michigan
NIH Genetics Training Grant (Pre-doctoral, 2006-2008)University of Michigan, Ann Arbor, Michigan
Name & DescriptionCategoryRoleTypeScopeStart YearEnd Year
American Society of Human Genetics, Annual Meeting Vancouver, Canada , “The Role of DNA Repair in Genomic Variation, Instability, and Human Disease.”Workshop/ConferenceSession ChairExternalNational20162016
Genome ResearchProfessional/Scientific JournalAd Hoc Manuscript ReviewerExternalInternational2012
Genetics in MedicineProfessional/Scientific JournalAd Hoc Manuscript ReviewerExternalInternational2012
BrainProfessional/Scientific JournalAd Hoc Manuscript ReviewerExternalInternational2012
NeurogeneticsProfessional/Scientific JournalAd Hoc Manuscript ReviewerExternalInternational2012
PLOS OneProfessional/Scientific JournalAd Hoc Manuscript ReviewerExternalNational2012
American Society of Human GeneticsProfessional/Scientific OrganizationMemberExternalNational2008
PRISMS - Parents and Researchers Interested in Smith-Magenis Syndrome.Professional/Scientific OrganizationMemberExternalNational2008

The mechanisms governing non-recurrent human structural variation (SV) are diverse and often poorly understood. I am investigating how human DNA maintains fidelity in the context of a repetitive genome. Human Alu elements number over one million copies per human genome, and recent studies have found that these repeat sequences often mediate SVs in some loci. Through computational, molecular biological and genomic techniques, we will identify regions susceptible to this form of SV and investigate the enzymes that limit or promote Alu-mediated rearrangements. These lines of inquiry could find regions prone to instability in human cancers and lead to targets for therapy.

Accepting students for Lab Rotations: Summer '18, Fall '18, Spring '19

Journal Articles

  • Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
    Stray-Pedersen, Asbjørg; Sorte, Hanne Sørmo; Samarakoon, Pubudu; Gambin, Tomasz; Chinn, Ivan K; Akdemir, Zeynep H Coban; Erichsen, Hans Christian; Forbes, Lisa R; Gu, Shen; Yuan, Bo; Jhangiani, Shalini N; Muzny, Donna M; Rødningen, Olaug Kristin; Sheng, Ying; Nicholas, Sarah K; Noroski, Lenora M; Seeborg, Filiz O; Davis, Carla; Canter, Debra; Mace, Emily M; Vece, Tim; Allen, Carl E; Abhyankar, Harshal A; Boone, Phil; Beck, Christine R; Wiszniewski, Wojciech Krysztof; Fevang, Børre; Aukrust, Pål; Tjønnfjord, Geir E; Gedde-Dahl, Tobias; Hjorth-Hansen, Henrik; Dybedal, Ingunn; Nordøy, Ingvild; Jørgensen, Silje F; Abrahamsen, Tore G; Øverland, Torstein; Bechensteen, Anne Grete; Skogen, Vegard; Osnes, Liv T; Kulseth, Mari Ann; Prescott, Trine E; Rustad, Cecilie F; Heimdal, Ketil R; Belmont, John W; Rider, Nicholas; Chinen, Javier; Cao, Tram; Smith, Eric; Caldirola, Maria Soledad; Bezrodnik, Liliana; Reyes, Saul Oswaldo Lugo; Rosales, Francisco J Espinosa; Guerrero, Denisse; Pedroza, Luis Alberto; Poli, Cecilia M; Franco, Jose L; Vargas, Claudia M Trujillo; Becerra, Juan Carlos Aldave; Wright, Nicola; Issekutz, Thomas B; Issekutz, Andrew C; Abbott, Jordan; Caldwell, Jason W; Bayer, Diana K; Chan, Alice Y; Aiuti, Alessandro; Cancrini, Caterina; Holmberg, Eva; West, Christina; Burstedt, Magnus; Karaca, Ender; Yesil, Gozde; Artac, Hasibe; Bayram, Yavuz; Atik, Mehmed Musa; Eldomery, Mohammad K; Ehlayel, Mohammad S; Jolles, Stephen; Flatø, Berit; Bertuch, Alison A; Hanson, I Celine; Zhang, Victor W; Wong, Lee-Jun; Hu, Jianhong; Walkiewicz, Magdalena; Yang, Yaping; Eng, Christine; Boerwinkle, Eric; Gibbs, Richard A; Shearer, William T; Lyle, Robert; Orange, Jordan S; Lupski, James R The Journal of allergy and clinical immunology 2017 Jan;139(1):232-245
  • Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.
    Loviglio, Maria Nicla; Beck, Christine R; White, Janson J; Leleu, Marion; Harel, Tamar; Guex, Nicolas; Niknejad, Anne; Bi, Weimin; Chen, Edward S; Crespo, Isaac; Yan, Jiong; Charng, Wu-Lin; Gu, Shen; Fang, Ping; Coban-Akdemir, Zeynep; Shaw, Chad A; Jhangiani, Shalini N; Muzny, Donna M; Gibbs, Richard A; Rougemont, Jacques; Xenarios, Ioannis; Lupski, James R; Reymond, Alexandre Genome medicine 2016 Nov;8(1):105
  • The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.
    Pehlivan, Davut; Beck, Christine R; Okamoto, Yuji; Harel, Tamar; Akdemir, Zeynep H C; Jhangiani, Shalini N; Withers, Marjorie A; Goksungur, Meryem Tuba; Carvalho, Claudia M B; Czesnik, Dirk; Gonzaga-Jauregui, Claudia; Wiszniewski, Wojciech; Muzny, Donna M; Gibbs, Richard A; Rautenstrauss, Bernd; Sereda, Michael W; Lupski, James R Genetics in medicine : official journal of the American College of Medical Genetics 2016 May;18(5):443-51
  • POGZ truncating alleles cause syndromic intellectual disability.
    White, Janson; Beck, Christine R; Harel, Tamar; Posey, Jennifer E; Jhangiani, Shalini N; Tang, Sha; Farwell, Kelly D; Powis, Zöe; Mendelsohn, Nancy J; Baker, Janice A; Pollack, Lynda; Mason, Kati J; Wierenga, Klaas J; Arrington, Daniel K; Hall, Melissa; Psychogios, Apostolos; Fairbrother, Laura; Walkiewicz, Magdalena; Person, Richard E; Niu, Zhiyv; Zhang, Jing; Rosenfeld, Jill A; Muzny, Donna M; Eng, Christine; Beaudet, Arthur L; Lupski, James R; Boerwinkle, Eric; Gibbs, Richard A; Yang, Yaping; Xia, Fan; Sutton, V Reid Genome medicine 2016 Jan;8(1):3
  • Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.
    Yuan, Bo; Liu, Pengfei; Gupta, Aditya; Beck, Christine R; Tejomurtula, Anusha; Campbell, Ian M; Gambin, Tomasz; Simmons, Alexandra D; Withers, Marjorie A; Harris, R Alan; Rogers, Jeffrey; Schwartz, David C; Lupski, James R PLoS genetics 2015 Dec;11(12):e1005686
  • Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
    Yuan, Bo; Harel, Tamar; Gu, Shen; Liu, Pengfei; Burglen, Lydie; Chantot-Bastaraud, Sandra; Gelowani, Violet; Beck, Christine R; Carvalho, Claudia M B; Cheung, Sau Wai; Coe, Andrew; Malan, Valérie; Munnich, Arnold; Magoulas, Pilar L; Potocki, Lorraine; Lupski, James R American journal of human genetics 2015 Nov;97(5):691-707
  • DNA REPAIR. Mus81 and converging forks limit the mutagenicity of replication fork breakage.
    Mayle, Ryan; Campbell, Ian M; Beck, Christine R; Yu, Yang; Wilson, Marenda; Shaw, Chad A; Bjergbaek, Lotte; Lupski, James R; Ira, Grzegorz Science (New York, N.Y.) 2015 Aug;349(6249):742-7
  • Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.
    Gu, Shen; Yuan, Bo; Campbell, Ian M; Beck, Christine R; Carvalho, Claudia M B; Nagamani, Sandesh C S; Erez, Ayelet; Patel, Ankita; Bacino, Carlos A; Shaw, Chad A; Stankiewicz, Pawel; Cheung, Sau Wai; Bi, Weimin; Lupski, James R Human molecular genetics 2015 Jul;24(14):4061-77
  • Assessing structural variation in a personal genome-towards a human reference diploid genome.
    English, Adam C; Salerno, William J; Hampton, Oliver A; Gonzaga-Jauregui, Claudia; Ambreth, Shruthi; Ritter, Deborah I; Beck, Christine R; Davis, Caleb F; Dahdouli, Mahmoud; Ma, Singer; Carroll, Andrew; Veeraraghavan, Narayanan; Bruestle, Jeremy; Drees, Becky; Hastie, Alex; Lam, Ernest T; White, Simon; Mishra, Pamela; Wang, Min; Han, Yi; Zhang, Feng; Stankiewicz, Pawel; Wheeler, David A; Reid, Jeffrey G; Muzny, Donna M; Rogers, Jeffrey; Sabo, Aniko; Worley, Kim C; Lupski, James R; Boerwinkle, Eric; Gibbs, Richard A BMC genomics 2015 Apr;16286
  • PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations.
    Wang, Min; Beck, Christine R; English, Adam C; Meng, Qingchang; Buhay, Christian; Han, Yi; Doddapaneni, Harsha V; Yu, Fuli; Boerwinkle, Eric; Lupski, James R; Muzny, Donna M; Gibbs, Richard A BMC genomics 2015 Mar;16214
  • Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.
    Beck, Christine R; Carvalho, Claudia M B; Banser, Linda; Gambin, Tomasz; Stubbolo, Danielle; Yuan, Bo; Sperle, Karen; McCahan, Suzanne M; Henneke, Marco; Seeman, Pavel; Garbern, James Y; Hobson, Grace M; Lupski, James R PLoS genetics 2015 Mar;11(3):e1005050
  • Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
    Yuan, Bo; Pehlivan, Davut; Karaca, Ender; Patel, Nisha; Charng, Wu-Lin; Gambin, Tomasz; Gonzaga-Jauregui, Claudia; Sutton, V Reid; Yesil, Gozde; Bozdogan, Sevcan Tug; Tos, Tulay; Koparir, Asuman; Koparir, Erkan; Beck, Christine R; Gu, Shen; Aslan, Huseyin; Yuregir, Ozge Ozalp; Al Rubeaan, Khalid; Alnaqeb, Dhekra; Alshammari, Muneera J; Bayram, Yavuz; Atik, Mehmed M; Aydin, Hatip; Geckinli, B Bilge; Seven, Mehmet; Ulucan, Hakan; Fenercioglu, Elif; Ozen, Mustafa; Jhangiani, Shalini; Muzny, Donna M; Boerwinkle, Eric; Tuysuz, Beyhan; Alkuraya, Fowzan S; Gibbs, Richard A; Lupski, James R The Journal of clinical investigation 2015 Feb;125(2):636-51
  • Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination.
    Campbell, Ian M; Gambin, Tomasz; Dittwald, Piotr; Beck, Christine R; Shuvarikov, Andrey; Hixson, Patricia; Patel, Ankita; Gambin, Anna; Shaw, Chad A; Rosenfeld, Jill A; Stankiewicz, Pawel BMC biology 2014 Sep;1274
  • The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.
    Boone, Philip M; Yuan, Bo; Campbell, Ian M; Scull, Jennifer C; Withers, Marjorie A; Baggett, Brett C; Beck, Christine R; Shaw, Christine J; Stankiewicz, Pawel; Moretti, Paolo; Goodwin, Wendy E; Hein, Nichole; Fink, John K; Seong, Moon-Woo; Seo, Soo Hyun; Park, Sung Sup; Karbassi, Izabela D; Batish, Sat Dev; Ordóñez-Ugalde, Andrés; Quintáns, Beatriz; Sobrido, María-Jesús; Stemmler, Susanne; Lupski, James R American journal of human genetics 2014 Aug;95(2):143-61
  • PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.
    Stray-Pedersen, Asbjørg; Backe, Paul H; Sorte, Hanne S; Mørkrid, Lars; Chokshi, Niti Y; Erichsen, Hans Christian; Gambin, Tomasz; Elgstøen, Katja B P; Bjørås, Magnar; Wlodarski, Marcin W; Krüger, Marcus; Jhangiani, Shalini N; Muzny, Donna M; Patel, Ankita; Raymond, Kimiyo M; Sasa, Ghadir S; Krance, Robert A; Martinez, Caridad A; Abraham, Shirley M; Speckmann, Carsten; Ehl, Stephan; Hall, Patricia; Forbes, Lisa R; Merckoll, Else; Westvik, Jostein; Nishimura, Gen; Rustad, Cecilie F; Abrahamsen, Tore G; Rønnestad, Arild; Osnes, Liv T; Egeland, Torstein; Rødningen, Olaug K; Beck, Christine R; Baylor-Johns Hopkins Center for Mendelian Genomics; Boerwinkle, Eric A; Gibbs, Richard A; Lupski, James R; Orange, Jordan S; Lausch, Ekkehart; Hanson, I Celine American journal of human genetics 2014 Jul;95(1):96-107
  • Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D.
    Okamoto, Yuji; Goksungur, Meryem Tuba; Pehlivan, Davut; Beck, Christine R; Gonzaga-Jauregui, Claudia; Muzny, Donna M; Atik, Mehmed M; Carvalho, Claudia M B; Matur, Zeliha; Bayraktar, Serife; Boone, Philip M; Akyuz, Kaya; Gibbs, Richard A; Battaloglu, Esra; Parman, Yesim; Lupski, James R Genetics in medicine : official journal of the American College of Medical Genetics 2014 May;16(5):386-394
  • Curcumin facilitates a transitory cellular stress response in Trembler-J mice.
    Okamoto, Yuji; Pehlivan, Davut; Wiszniewski, Wojciech; Beck, Christine R; Snipes, G Jackson; Lupski, James R; Khajavi, Mehrdad Human molecular genetics 2013 Dec;22(23):4698-705
  • Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.
    Shuvarikov, Andrey; Campbell, Ian M; Dittwald, Piotr; Neill, Nicholas J; Bialer, Martin G; Moore, Christine; Wheeler, Patricia G; Wallace, Stephanie E; Hannibal, Mark C; Murray, Michael F; Giovanni, Monica A; Terespolsky, Deborah; Sodhi, Sandi; Cassina, Matteo; Viskochil, David; Moghaddam, Billur; Herman, Kristin; Brown, Chester W; Beck, Christine R; Gambin, Anna; Cheung, Sau Wai; Patel, Ankita; Lamb, Allen N; Shaffer, Lisa G; Ellison, Jay W; Ravnan, J Britt; Stankiewicz, Pawel; Rosenfeld, Jill A Human mutation 2013 Oct;34(10):1415-23
  • Transduction-specific ATLAS reveals a cohort of highly active L1 retrotransposons in human populations.
    Macfarlane, Catriona M; Collier, Pamela; Rahbari, Raheleh; Beck, Christine R; Wagstaff, John F; Igoe, Samantha; Moran, John V; Badge, Richard M Human mutation 2013 Jul;34(7):974-85
  • Macrophage migration inhibitory factor acts as a neurotrophin in the developing inner ear.
    Bank, Lisa M; Bianchi, Lynne M; Ebisu, Fumi; Lerman-Sinkoff, Dov; Smiley, Elizabeth C; Shen, Yu-chi; Ramamurthy, Poornapriya; Thompson, Deborah L; Roth, Therese M; Beck, Christine R; Flynn, Matthew; Teller, Ryan S; Feng, Luming; Llewellyn, G Nicholas; Holmes, Brandon; Sharples, Cyrrene; Coutinho-Budd, Jaeda; Linn, Stephanie A; Chervenak, Andrew P; Dolan, David F; Benson, Jennifer; Kanicki, Ariane; Martin, Catherine A; Altschuler, Richard; Koch, Alisa E; Koch, Alicia E; Jewett, Ethan M; Germiller, John A; Barald, Kate F Development (Cambridge, England) 2012 Dec;139(24):4666-74
  • LINE-1 elements in structural variation and disease.
    Beck, Christine R; Garcia-Perez, José Luis; Badge, Richard M; Moran, John V Annual review of genomics and human genetics 2011 Jan;12187-215
  • LINE-1 retrotransposition activity in human genomes.
    Beck, Christine R; Collier, Pamela; Macfarlane, Catriona; Malig, Maika; Kidd, Jeffrey M; Eichler, Evan E; Badge, Richard M; Moran, John V Cell 2010 Jun;141(7):1159-70
  • Optimization of feline immunodeficiency virus vectors for RNA interference.
    Harper, Scott Q; Staber, Patrick D; Beck, Christine R; Fineberg, Sarah K; Stein, Colleen; Ochoa, Dalyz; Davidson, Beverly L Journal of virology 2006 Oct;80(19):9371-80

Case Reports

Title or AbstractTypeSponsor/EventDate/YearLocation
The use of capture and long-read PacBio sequencing for clinically relevant loci. Invited SpeakerTalkEuropean Society of Human Genetics PacBio Satellite Meeting2016Barcelona, Spain
Integration of exome sequencing and genomic analyses reveals potential Smith-Magenis-like causative genesTalkParents Researchers Int. Smith-Magenis Syndrome (PRISMS) Research Symposium2016Houston,Texas
Targeted Capture and SMRT sequencing for Complex Genomic Loci. Invited SpeakerTalkPacBio Users Group Meeting2016Stanford, California
Mechanisms for DNA Rearrangements in Genomic Disorders- From the Bedside to the Bench Side. Invited SpeakerTalkAmerican Society of Human Genetics Meeting2016Vancouver, Canada
Smith-Magenis Syndrome and Complex Genomic RearrangementsTalkParents Researchers Int. Smith-Magenis Syndrome (PRISMS) Research Symposium2014St. Louis, Missouri
Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and QuadruplicationTalkPersonal Genomes: Discovery, Treatment & Outcomes Meeting2014Cold Spring Harbor Labs, New York
PacBio Long-Read-Length Sequencing for Structural Variation Analysis of the Human GenomeTalkPersonal Genomes Meeting2013Cold Spring Harbor Labs, New York
The Molecular Basis of Phenotypic Variation in Smith-Magenis and Potocki-Lupski SyndromesTalkParents Researchers Int. Smith-Magenis Syndrome (PRISMS) Research Symposium2012Denver, Colorado
LINE-1 variation in human genomes.TalkAmerican Society of Human Genetics2009Honolulu, Hawaii.