History of the Department
On the following page is a brief history of the department, along with a video entitled “The First 48 Years of the Department of Genetics at the University of Pennsylvania”. On the subsequent page there are four additional videos: “The Billingham Chairmanship and Transplantation Immunology” (Clyde Barker and David Gasser), “The Mellman Chairmanship and Cytogenetics” (Beverly Emanuel and David Gasser), “The Mellman Chairmanship and Maternal/Fetal Medicine” (Michael Mennuti and David Gasser), and “The Kazazian Chairmanship” (Haig Kazazian and David Gasser). Read and view more about the department...
Stephen A. Liebhaber, M.D.
The Department of Genetics hosts a different speaker every Monday of the academic year, with invitees ranging from postdoctoral researchers to prominent scientists presenting a broad array of current, genetics-related research. Our series is cosponsored with the Department of Cell and Developmental Biology and the Institute for Regenerative Medicine. Click here to view the schedule.
We are pleased to announce that this year's Tom Kadesch Prize in Genetic Research is being awarded to Maria Elena De Obaldia at the 2013 Genetics Symposium. Read more about Ms. De Obaldia, the Kadesch Prize, and the Symposium... Congratulations also to GGR student, Ian Silverman, who was the winner of the Symposium Poster Prize.
Becca Mueller, Abby Huntington, Ellen De Obaldia, Stephen Liebhaber
Congratulations to John Murray and his postoc Amanda Zacharais, winners of The Federation of American Societies for Experimental Biology (FASEB) 2013 BioArt Competition for their worm embryo video. See the video here...
Congratulations to Meera Sundaram, the 2013 recipient of the Jane Glick Graduate Student Teaching Award. Please join us in congratulating Meera on this well deserved recognition of her outstanding dedication to graduate student teaching. Read More...
Meera Sundaram, Stephen Liebhaber
Brian Johnson, 4th year CAMB/GGR student in the Zhou laboratory, is awarded the 2013 UNCF-Merck Graduate Science Research Fellowship. Congratulations to Brian!
Recent Faculty Additions
We are pleased to announce the recruitment of Christopher (Casey) Brown, Ph.D. Casey received his Ph.D. in Genetics from Stanford in 2007 in the laboratory of Arend Sidow, where he used a combination of whole embryo expression data and statistical modeling to explore the role of evolutionary processes in defining constraints over a compendium of over 70 expression-defining determinants in the tunicate, Ciona intestinalis, genome. His postdoctoral studies in the lab of Kevin White at the Institute for Genomics and Systems Biology, University of Chicago, focused on the analysis of cis-regulatory variation in human primary tissue using novel adaptations of quantitative trait locus (eQTL) mapping. Casey will join the Department as a tenure track Assistant Professor on January 1, 2013. His arrival is expected to further strengthen and expand the Department's capacities in the field of biomedical informatics and to extend our mechanistic studies of gene regulation by noncoding determinants.
Recent Genetics Faculty Publications
Focal segmental glomerulosclerosis is associated with a PDSS2 haplotype and, independently, with a decreased content of coenzyme Q10.
Gasser DL, Winkler CA, Peng M, An P, McKenzie LM, Kirk GD, Shi Y, Xie LX, Marbois BN, Clarke CF and Kopp JB.
Am J Physiol Renal Physiol 305(8): F1228-F1238, 2013.
Loss of MeCP2 function is associated with distinct gene expression changes in the striatum.
Zhao Y, Goffin D, Johnson B and Zhou Z. Neurobiology of Disease. 59C:257-266, 2013.
Neuronal morphology in MeCP2 mouse models is intrinsically variable and depends on age, cell type, and Mecp2 mutation.
Wang IT, Reyes AR and Zhou Z Neurobiology of Disease. 58C:3-12, 2013.
From Mouse to Human: Evolutionary Genomics Analysis of Human Orthologs of Essential Genes.
Georgi B, Voight BF, Bucan M PLoS Genet. 2013. 9(5): e1003484.
Disruption of SoxB1 dependent Sonic hedgehog expression in the hypothalamus causes Septo-Optic Dysplasia.
Zhao, L., Zevallos, S., Rizzoti, K., Jeong, Y., Lovell-Badge, R. and Epstein, D.J.
Developmental Cell. 2012. 22:585-596.
Regulation of thalamic development by Sonic hedgehog.
Frontiers in Neurogenesis. 2012. 6:57.
Book Chapter: Behavior in a Drosophila Model of Fragile X
McBride SM, Bell AJ and Jongens TA
In Modeling Fragile X Syndrome, Results Problems Cell Differentiation, 54: 83-117, edited by Robert Denman, publisher: SpringerLink. 2012.
Foxa2 and H2A.Z Mediate Nucleosome Depletion during Embryonic Stem Cell Differentiation
Zhaoyu Li,1 Paul Gadue,2 Kaifu Chen,3 Yang Jiao,1 Geetu Tuteja,1 Jonathan Schug,1 Wei Li,3 and Klaus H. Kaestner1.
Cell. 2012 Dec 21;151(7):1608-16.
Foxa1 and Foxa2 are essential for sexual dimorphism in liver cancer.
Li Z, Tuteja G, Schug J, Kaestner KH.
Cell. 2012 Jan 20;148(1-2):72-83.
Genome-wide location analysis reveals distinct transcriptional circuitry by paralogous regulators foxa1 and foxa2.
Bochkis IM, Schug J, Ye DZ, Kurinna S, Stratton SA, Barton MC, Kaestner KH.
PLoS Genet. 2012 Jun;8(6):e1002770.
The Poly-C Binding Proteins, αCPs, Act as Global Regulators of Alternative Polyadenylation.
Ji X, Wan J, Vishnu M, Xing Y, Liebhaber SA
Mol and Cell Biol. 2013. In press.
Distinct chromatin configurations regulate the initiation and the maintenance phases of hGH gene expression.
Ho Y., Shewchuk, B., Liebhaber SA, Cooke NE.
In press. Mol Cell Biol. 2013
An RNA-independent Linkage of Non-coding Transcription to Long-Range Enhancer Function.
Yoo, Eung Jae, Cooke, Nancy E., and Liebhaber, Stephen A.
Mol Cell Biol. 32:2020-9, 2012
Multidimensional regulation of gene expression in the C. elegans embryo.
Murray JI, Boyle TJ, Preston E, Vafeados D, Mericle B, Weisdepp P, Zhao Z, Bao Z, Boeck M, Waterston RH.
Genome Res. 2012 May 23.
A quantitative model of normal Caenorhabditis elegans embryogenesis and its disruption after stress.
Richards JL, Zacharias AL, Walton T, Burdick JT, Murray JI.
Dev Biol. 2013 Feb 1;374(1):12-23. doi: 10.1016/j.ydbio.2012.11.034. Epub 2012 Dec 7.
A genome-scale resource for in vivo tag-based protein function exploration in C. elegans.
Sarov M, Murray JI, Schanze K, Pozniakovski A, Niu W, Angermann K, Hasse S, Rupprecht M, Vinis E, Tinney M, Preston E, Zinke A, Enst S, Teichgraber T, Janette J, Reis K, Janosch S, Schloissnig S, Ejsmont RK, Slightam C, Xu X, Kim SK, Reinke V, Stewart AF, Snyder M, Waterston RH, Hyman AA.
Cell. 2012 Aug 17;150(4):855-66.
Ontogeny of erythroid gene expression.
Kingsley PD, Greenfest-Allen E, Frame JM, Bushnell TP, Malik J, McGrath KE, Stoeckert CJ Jr, Palis J.
Blood. 2012 Dec 12.
Canonical RTK-Ras-ERK signaling and related alternative pathways.
Sundaram, M. V.
Wormbook, edited by the Community of C. elegans Researchers. 2013. In press.
The Nkx5/HMX homeodomain protein MLS-2 is required for proper tube cell shape in the C.elegans excretory system.
Abdus-Saboor, I., Stone, C.E., Murray, J.I. and Sundaram, M.V.
Dev. Biol. 366, 298-307. 2012.
Extracellular leucine-rich repeat proteins are required to organize the apical extracellular matrix and maintain epithelial junction integrity in C. elegans.
Mancuso VP, Parry JM, Storer L, Poggioli C, Nguyen KQC, Hall DH, and Sundaram MV.
Development 139: 979-990 (2012).
Evolutionary History and Adaptation from High-Coverage Whole-Genome Sequences of Diverse African Hunter-Gatherers
Joseph Lachance, Benjamin Vernot, Clara C. Elbers, Bart Ferwerda, Alain Froment, Jean-Marie Bodo, Godfrey Lema, Wenqing Fu, Thomas B. Nyambo, Timothy R. Rebbeck, Kun Zhang, Joshua M. Akey, Sarah A. Tishkoff
Cell Volume 150, Issue 3, 457-469, 26 July 2012
Human evolutionary genomics: ethical and interpretive issues.
Vitti, J. J., Cho, M. K., Tishkoff, S. A., Sabeti, P. C.
Trends in Genetics 28(3): 137-45, 2012.
Genetic adaptation to high altitude in the Ethiopian highlands.
Scheinfeldt LB, Soi S, Thompson S, Ranciaro A, Woldemeskel D, Beggs W, Lambert C, Jarvis JP, Abate D, Belay G, Tishkoff SA.
Genome Biology 13(1): R1, 2012.
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.
Andrew P. Morris, Benjamin F. Voight, Tanya M. Teslovich, Teresa Ferreira, and Ayellet V. Segrè, et al, on behalf of the DIAbetes
Genetics Replication and Meta-analysis Consortium.
Nature Genetics, 44: 981–990. August, 2012
The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits.
Benjamin F. Voight, Hyun Min Kang, et al.
PLoS Genetics, 8(8): e1002793. August, 2012
Zhaolan (Joe) Zhou
Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in mice.
Wang IT, Allen M, Goffin D, Zhu X, Fairless AH, Brodkin ES, Siegel SJ, Marsh ED, Blendy JA, Zhou Z.
Proc Natl Acad Sci U S A. 2012 Dec 26;109(52):21516-21.
Recent Genetics Faculty Grants and Funding
Joe Zhou has been awarded an R01 from the NINDS.
Title: Understanding the Pathogenic Mechanisms of Rett Syndrome
Donna George has been awarded a P01 from the NCI.
Title: Targeted Therapies in Melanoma
John Murray has been awarded an R01 from the NIH.
Title: Mechanisms integrating lineage history with fate specification in C. elegans
Casey Brown has been awarded an R01 from the NIMH.
Title: Identification and validation of cell specific eQTLs by Bayesian modeling
Maja Bucan and Steven Paul, from Weill Medical College of Cornell, were awarded a 4-year Multi-PI R01 from the NIMH.
Title: Genomic analysis of bipolar disorder in a genetic isolate
The NIDDK-funded Beta Cell Biology Consortium (BCBC) announced a Transformative Collaborative Project Award to Drs. Klaus Kaestner (IDOM) and Benjamin Glaser (Hadassah Medical School) to investigate “Non-neoplastic replication to expand functional beta-cell mass” (NORM). This two year award will focus on the proliferation and expansion of fully differentiated, mature human beta-cells. This research has implications for type 2 as well as type 1 diabetes, as insufficient beta-cell mass is also a hallmark of advanced type 2 diabetics.
Meera Sundaram was awarded a new 4-year NSF grant, starting June 1, 2013.
Title: C. elegans lipocalin function in growth factor signaling.
Meera Sundaram recently renewed her R01.
Title: Ras signaling and tubulogenesis in the C. elegans excretory (renal) system.
Benjamin Voight was named an Alfred P. Sloan Foundation Research Fellow for 2 years, starting 09/2012.
Benjamin Voight received a National Scientist Development Grant from the American Heart Association, a 4 year award starting 01/2013.
Title: Application of genetics for HDL into risk prediction and discovery of casual pathways for heart disease.
Benjamin Voight received a Research Award from the W.W. Smith Charitable Trust for 1 year, starting 07/2013.
Title: Identifying the etiological basis for heightened risk of cardiovascular disease in the context of glycemic disorder.