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...
 |
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
It is with great pleasure and pride that we announce that this year's Cohen Prize has been awarded to our very own Klaus Kaestner, Ph.D. Please join us in congratulating Klaus on the major accomplishment.
Congratulations to Vivian Cheung, M.D. In her election to the Institute of Medicine. This is a great honor for Vivian, and we in the Department of Genetics join her in celebrating this major milestone and recognition of her excellence in research.
Recent Faculty Additions
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.
Vivian Cheung, M.D. was appointed Professor of Genetics on July 1, 2011. Her HHMI Investigatorship was transferred to the the Perelman School of Medicine as well. Dr. Cheung's research and education contibutions will strengthen our impact within the Medical School, as her international reputation and
prominent role in the field of human genetics brings added focus to Penn.
Recent Genetics Faculty Publications
Balpreet Bhogal and Tom Thomas Jongens
Modulation of dADAR-dependent RNA editing by the Drosophila fragile X mental retardation protein.
Bhogal B, Jepson JE, Savva YA, Pepper AS, Reenan RA, Jongens TA.
Nat Neurosci. 2011 Oct 30. doi: 10.1038/nn.2950. [Epub ahead of print]
Zhaolan (Joe) Zhou
Rett Syndrome mutation MeCP2 T158A mutation disrupts DNA binding, protein stability and ERP responses.
Goffin D, Allen M*, Amorim M*, Zhang L*, Wang I-TJ*, Reyes A-RS, Mercado-Berton A, Ong C, Cohen S, Hu L, Blendy JA, Carlson G, Siegel S, Greenberg ME and Zhou Z.
Nature Neuroscience, doi:10.1038/nn2997, 2011.
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
Otic ablation of smoothened reveals direct and indirect requirements for Hedgehog signaling in inner ear development.
Brown AS, Epstein DJ.
Development. 2011 Sep;138(18):3967-76.
Spatial and temporal requirements for sonic hedgehog in the regulation of thalamic interneuron identity.
Jeong Y, Dolson DK, Waclaw RR, Matise MP, Sussel L, Campbell K, Kaestner KH, Epstein DJ.
Development. 2011 Feb;138(3):531-41.
Yugong Ho, Stephen Liebhaber, and Nancy Cooke
The Role of the hGH Locus Control Region in Somatotrope Restriction of hGH-N Gene Expression
Departments of Genetics (Y.H., S.A.L., N.E.C.) and Medicine (S.A.L., N.E.C.), University of Pennsylvania,School of Medicine, Philadelphia, Pennsylvania 19104
Molecular Endocrinology 2011 25: 877-884
Stephen Liebhaber
An RNA-protein complex links enhanced nuclear 3' processing with cytoplasmic mRNA stabilization
Xinjun Ji, Jian Kong, and Stephen A. Liebhaber
EMBO J. 2011 May 27;30(13):2622-33. doi:10.1038/emboj.2011.171.
Source: Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.
Julia Leu and Donna George
HSP70 inhibition by the small-molecule 2-phenylethynesulfonamide impairs protein clearance pathways in tumor cells
Leu JI, Pimkina J, Pandey P, Murphy ME, George DL
Molecular Cancer Research 9, 936-947 (2011).
The codon 72 polymorphism of p53 regulates interaction with NF-{kappa}B and transactivation of genes involved in immunity and inflammation
Frank AK, Leu JI, Zhou Y, Devarajan K, Nedelko T, Klein-Szanto A, Hollstein M, Murphy ME. Molecular and Cellular Biology 31, 1201-1213 (2011).
Meera Sundaram
Notch and Ras promote sequential steps of excretory tube development in C. elegans
Ishmail Abdus-Saboor1,*, Vincent P. Mancuso1,*, John I. Murray1, Katherine Palozola1, Carolyn Norris2, David H. Hall3, Kelly Howell1, Kai Huang1 and Meera V. Sundaram1,†
Development 138, 3545-3555 (2011)
Greg Grant and Chris Stoeckert
Comparative Analysis of RNA-Seq Alignment Algorithms and the RNA-Seq Unified Mapper (RUM)
Grant GR, Farkas MH, Pizarro A, Lahens N, Schug J, Brunk B, Stoeckert CJ Jr, Hogenesch JB, Pierce EA.
Bioinformatics. 2011 Jul 19. [Epub ahead of print]
PMID: 21775302
Chris Stoeckert
The Strategies WDK: a graphical search interface and web development kit for functional genomics databases
Fischer S, Aurrecoechea C, Brunk BP, Gao X, Harb OS, Kraemer ET, Pennington C, Treatman C, Kissinger JC, Roos DS, Stoeckert CJ.
Database (Oxford). 2011 Jun 23;2011:bar027. Print 2011.
PMID: 21705364
Klaus Kaestner
The nucleosome map of the mammalian liver
Li Z, Schug J, Tuteja G, White P, Kaestner KH
Nat Struct Mol Biol. 2011 Jun; 18(6):742-6. Epub 2011 May 29
Vivian Cheung
Widespread RNA and DNA sequence differences in the human transcriptome
Li M, Wang IX, Li Y, Bruzel A, Richards AL, Toung JM, Cheung VG
Science. 2011 Jul 1; 333(6038):53-8. Epub 2011 May 19
David Gasser
Probucol ameliorates renal and metabolic sequelae of primary CoQ deficiency in Pdss2 mutant mice
Marni J. Falk1,2*, Erzsebet Polyak1, Zhe Zhang3, Min Peng4, Rhonda King5, Jonathan S. Maltzman5, Ezinne Okwuego1, Oksana Horyn2, Eiko Nakamaru-Ogiso6, Julian Ostrovsky1, Letian X. Xie7, Jia Yan Chen7, Beth Marbois7, Itzhak Nissim2,6, Catherine F. Clarke7, David L. Gasser4
EMBO Mol Med 3, 410–427
Sarah Tishkoff
Effects of Natural Selection and Gene Conversion on the Evolution of Human Glycophorins Coding for MNS Blood Polymorphisms in Malaria-Endemic African Populations
Wen-Ya Ko,1 Kristin A. Kaercher,1 Emanuela Giombini,2 Paolo Marcatili,2 Alain Froment,3
Muntaser Ibrahim,4 Godfrey Lema,5 Thomas B. Nyambo,5 Sabah A. Omar,6 Charles Wambebe,7 Alessia Ranciaro,1 Jibril B. Hirbo,1 and Sarah A. Tishkoff1,*
The American Journal of Human Genetics 88, 741–754, June 10, 2011
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.
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
Klaus Kaestner and Benjamin Glaser, from the Hadassah-Hebrew University Medical Center, received a 2-year Transformative Collaborative Project Award from the Beta Cell Biology Consortium at the Vanderbilt University.
Title: Non-neoplastic replication to expand functional beta-cell mass (NORM)