About the Department
The Department of Genetics was established as the Department of Medical Genetics in 1965 as a new direction for The Henry Phipps Institute; an Institute that was founded in 1903 for the study, treatment and prevention of tuberculosis and subsequently broadened to include research in other communicable diseases. Read more about the department...
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Stephen A. Liebhaber, M.D. |
Seminar Series
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 2011/2012 schedule.
Department Highlights
We are pleased to announce that this year's Tom Kadesch Prize in Genetic Research was awarded to Ishmail Abdus-Saboor, Ph.D. at the Penn Genetics Symposium. Read more about Dr. Abdus-Saboor, the Kadesch Prize, and the Symposium...
Alex Kadesch, Abby Kadesch, Ishmail Abdus-Saboor, Rebecca Mueller, Stephen Liebhaber
Congratulations to Shelley Berger for her election as a new member of the Institute of Medicine (IOM), one of the nation's highest honors in biomedicine. New IOM members are elected through a highly selective process, recognizing individuals making major contributions to medical science advancement, health care, and public health.
Sarah Tishkoff, along with Joseph Lachance, Clara Elbers, Bart Ferwerda and Timothy Rebbeck, worked on a Penn-led study of African Hunter-Gatherers Elucidates Human Variation, Evolution and Interbreeding. Their efforts received coverage in the New York Times, the Washington Post, Nature, and several other journals. Read more...
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. |
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As part of the Perelman School of Medicine’s efforts to recruit individuals who specialize in bioinformatics, we are pleased to announce that Yoseph Barash, Ph.D. will join the Department of Genetics in January 2012. Dr. Barash comes to us from the University of Toronto and adds a world-class expert in bio-informatics, machine learning, and RNA biology to our faculty.
Recent Genetics Faculty Publications
Benjamin Voight
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
Plasma HDL cholesterol and risk of myocardial infarction: a mendelian
randomisation study.
Benjamin F. Voight, Gina M. Peloso, et al.
The Lancet, 380(9841):572-80. August, 2012
Thomas Jongens
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).
Douglas Epstein
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.
Epstein, D.J.
Frontiers in Neurogenesis. 2012. 6:57.
Klaus Kaestner
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.
PMID: 22265403 [PubMed - indexed for MEDLINE]
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. Epub 2012 Jun 21.
Stephen Liebhaber
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
John Murray
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.
John Murray and Meera Sundaram
The Nkx5/HMX homeodomain protein MLS-2 is required for proper tube cell shape in the C. elegans excretory system.
Abdus-Saboor I, Stone CE, Murray JI, Sundaram MV.
Dev Biol. 2012 Jun 15;366(2):298-307. Epub 2012 Apr 17.
Meera Sundaram
Extracellular leucine-rich repeat proteins are required to organize the apical extracellular matrix and maintain epithelial junction integrity in C. elegans.
Mancuso, V.P., Parry, J.M., Storer, L., Poggioli, C., Nguyen, K. Q. C., Hall, D.H. and Sundaram, M.V.
Development 139: 979-990 (2012).
Sarah Tishkoff
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, L. B., Soi, S., Thompson, S., Ranciaro, A., Woldemeskel, D., Beggs, W., Lambert, C., Jarvis, J. P., Abate, D., Belay, G., Tishkoff, S. A.
Genome Biology 13(1): R1, 2012.
Patterns of Ancestry, Signatures of Natural Selection, and Genetic Association with Stature in West African Pygmies. PLoS Genetics
Jarvis JP, Scheinfeldt LB, Soi S, Lambert C, Omberg L, Ferwerda B, Bodo J-M, Beggs W, Hoffman G, Mezey J, Tishkoff SA.
PLoS Genetics Apr;8(4):e1002641. Epub 2012 Apr 26. 2012.
Recent Genetics Faculty Grants and Funding
The NIDDK-funded Beta Cell Biology Consortium (BCBC) has just announced a new Transformative Collaborative Project Award to Drs. Klaus Kaestner from IDOM and Benjamin Glaser from 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 recently renewed her R01.
2R01GM058540-10A1
Title:
Ras signaling and tubulogenesis in the C. elegans excretory (renal) system
Jean Parry, a Postdoctoral Fellow in Meera Sundaram’s lab, was awarded an NIH NIDDK F-32 fellowship.
1-F32-DK093204-01
Title: DAJ-1, a transmembrane LRR protein is required in C. elegans unicellular tubes
Maja Bucan and Steven Paul, from Weill Medical College of Cornell, were awarded a 4-year Multi-PI R01 from the NIMH.
1-R01-MH093415-01A1
Title: Genomic analysis of bipolar disorder in a genetic isolate