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Cell and Molecular Biology Graduate Group


Genetics and Gene Regulation Program


Program Chair:

Dr. Douglas Epstein
470 Clinical Research Building
415 Curie Boulevard
Philadelphia, Pennsylvania 19104-6145

Office tel.: 215 573-4810
E-mail: epsteind@mail.med.upenn.edu

Program Coordinator:

Meagan Schofer
Phone: 215-898-9536
mschofer@mail.med.upenn.edu


Faculty

(Edwin) Ted Abel
Gustave Aguirre
Michael Atchison
Shelley Berger
Gerd Blobel
Edward S. Brodkin
Maja Bucan
Russ Carstens
Vivian Cheung
Nancy Cooke
Gideon Dreyfuss
Douglas Epstein
Joshua R. Friedman
David L. Gasser
Donna L. George
Aaron D. Gitler
Brian D. Gregory
Susan Janicki
Thomas Jongens
Thomas Kadesch
Klaus Kaestner
Brett Kaufman
Haig Kazazian
Marianthi Kiriakadou
Mitchell Lazar
Frank Lee
Stephen Liebhaber
Nina Luning Prak
Zissimos Mourelatos

Kazuko Nishikura
John R. Pehrson
Eric Pierce
David Raizen
J. Eric Russell
Amita Sehgal
Tamim Shaikh
Eileen M. Shore
Nancy Spinner
Doris Stoffers
Meera Sundaram
Sarah Tishkoff
Doris Wagner
Mitchell Weiss
Andrew D. Wells
Kenneth Zaret
Jumin Zhou
Zhaolan Zhou

For other CAMB faculty with interests related to Genetics and Gene Regulation, see topic links above

Contributing Faculty
(Does not take students.)

Eric Moss
Hillary Nelson
Donald Patterson


Other CAMB programs:

Cell Biology and Physiology (CBP)
Cancer Biology
Developmental, Stem Cell and Regenerative Biology (DB)
Gene Therapy and Vaccines (GTV)
Microbiology, Virology and Parasitology (MVP)

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Overview | Requirements | Courses

Program Overview 

 

Genetics is a discipline of central importance to the biomedical sciences. Genetic changes underlie many human health problems, from single gene “Mendelian” disorders to more complex traits such as diabetes, heart disease and psychiatric disorders. With the expanding availability of whole genome sequences, we know the gene content of many organisms and have significant information about genetic variation between species and between individuals. Indeed, we are now in an age where private companies offer personal genome sequencing. But what do all these sequences mean? What are the functions of all those predicted genes in development, metabolism or behavior? Which genetic variants are actually responsible for our phenotypic differences? Which variants predispose to disease? How do the different cells in your body know which genes to express, and how is this massive regulatory task accomplished? Can we manipulate gene expression patterns to generate desired cell types? These are the sorts of questions that modern genetics seeks to address.

The Genetics and Gene Regulation (GGR) program provides comprehensive training in model organism genetics, human and quantitative genetics, and gene regulation and epigenetics. There is a large and diverse community of geneticists on the UPenn campus that includes the Genetics department as well as members of many other basic science and clinical departments at UPenn, Children’s Hospital, the Wistar Institute and the Fox Chase Cancer Center. Activities sponsored by our program include Genetics journal clubs and topic clubs, seminars, weekly student and postdoc research presentations, and a monthly “Final Friday” dinner and social gathering. GGR maintains close ties with the Genomics and Computational Biology (GCB) graduate group, and students with interests that span Genetics and Genomics can select coursework and dual mentors from both programs. Laboratories in the GGR program conduct research in a wide variety of areas, including:

human genetics
genetics of model organisms
developmental genetics
behavioral genetics and neurobiology
cancer genetics and signal transduction
genetics of diabetes and metabolism
animal modeling of human disease
transcriptional and post-transcriptional gene regulation
epigenetics and chromatin
retrotransposition
bioinformatics and genomics

(Click on a term to see laboratories working in that area)

Overview | Requirements | Courses

Program Requirements 

 

Required Courses:

BIOM core courses (see Curriculum page)
CAMB 605 (see Curriculum page)
CAMB 550 (Genetic Principles)
CAMB 608 (Regulation of Eukaryotic Gene Expression).
3 electives

See Curriculum section of this site for more information on the CAMB graduate group's requirements and related topics.

Overview | Requirements | Courses

Program Courses 

 

(Click on links for course descriptions below. Additional information may be found at http://www.med.upenn.edu/bgs/Current_Students_Courses.shtml))

CAMB 534: Seminar on Current Genetic Research
CAMB 550: Genetic Principles
CAMB 608: Seminar in Regulation of Eukaryotic Gene Expression
CAMB 630: Topics in Human Genetics and Diseases
CAMB 752: Genomics

Suggested Elective Courses:

BIOL 446:Statistics for Biologists
BIOL 483: Epigenetics
CAMB 511: Principles of Development
INSC 578: Behavioral Genetics
CAMB 512: Cancer Genetics and Biology
CAMB 530: Seminar in Cell Cycle and Cancer
CAMB 620: Thematic Concepts in Developmental Biology
CAMB 695: Scientific Writing
CAMB 697: The Biology of Stem Cells
GCB 535: Introduction to BioInformatics
GCB 536: Computational Biology


Required program courses

CAMB 550: Genetic Principles
2009 Syllabus
This is a required course of the Genetics and Gene Regulation Program and is designed to provide students with a comprehensive overview of genetic concepts and methodology. The course is organized into three parts: I Fundamental genetic concepts; II Genetics of model organisms (with a focus on yeast, worms, flies and mice); III Human genetics and disease. Each week there will be two lectures and one associated discussion/problem-solving session. Discussions emphasize practical aspects of generating and interpreting genetic data. Offered spring semester. [up]

CAMB 608: Seminar in Regulation of Eukaryotic Gene Expression
2008-09 Syllabus
An advanced seminar course emphasizing the molecular biology and molecular genetics of transcription in eukaryotes. Based on current literature, the presentations and discussions will familiarize the student with present day technology and developing principles. Prerequisites: CAMB 555 and permission of instructors. Offered fall semester. [up]

Elective program courses

CAMB 534: Seminar on current genetic research: Modeling Human Disease in Animals.
2009 Syllabus
An advanced seminar course emphasizing genetic research in model organisms and how it informs modern medicine. Each week a student will present background on a specific human disease. This is followed by an intense discussion by the entire class of ~2 recent papers in which model organisms have been used to address the disease mechanism and/or treatment. Offered spring semester. Prerequisites: CAMB 605 or CAMB542 or permission of the instructor. [up]

CAMB 630 : Topics in Human Genetics and Disease
Building on the foundations of the Human Genome and HapMap projects, as well as parallel efforts in model organisms, research in human genetics and genomics is progressing rapidly. Our understanding of basic concepts in genetics, and Mendelian and non-Mendelian human genetic disease is proceeding at an unprecedented pace. This course will provide students with an overview to approaches to understanding current problems and techniques in human genetics. The format will be an advanced seminar course, with directed reading and students presentations. Prerequisites: This course is designed for students with previous background in graduate level genetics, i.e., CAMB graduate students having taken CAMB 550, or students in MD/PhD, veterinary, genetic counseling or nursing programs with equivalent courses. Offered fall semester.[up]

CAMB 752: Genomics
The goals of this course are to introduce the basic principles and methods involved in mapping and sequencing genomes, familiarize the students with the genomics-based infrastructures of information and biological materials that are being developed as the various genome projects progress, and examine how these new tools and resources are being applied to specific research problems. The course will focus on three main areas: Mapping and Sequencing of Genomes, Functional Analysis of Genomic Information, and Bioinformatics Issues. Offered spring semester. [up]

Other Suggested Elective Courses:

BIOL 446: Statistics for Biologists
Introductory probability theory. Principles of statistical methods. Problems of estimation and hypothesis testing in biology and related areas. Offered fall semester.[up]

BIOL 483: Epigenetics
This course investigates epigenetic phenomena: heritable alternate states of gene activity that do not result from an alteration in nucleotide composition (mutations). Epigenetic mechanisms regulate genome accessibility and cell differentiation. They play a key role in normal development and in oncogenesis. For example both mammalian X-chromosome inactivation and nuclear transfer (cloning) are subject to epigenetic regulation. Amongst the epigenetic mechanisms we will discuss in this course are chromatin organization, histone modification, DNA methylation and non-coding RNAs. The course is geared at advanced undergraduate and beginning graduate students and is a combination of lectures, student presentations and research presentations by guest speakers. Students will work with the current scientific literature. The class size is limited to 22 students. Offered Spring semester. Course director: Doris Wagner [up]

BIOM 520 : BGS Biostatistics Workshop
This is an intensive 3-week, 0.5 CU summer course that is designed to introduce Biomedical Graduate Studies doctoral students to basic biostatistical methods and analyses. The class meets Monday through Friday morning for 90 minutes and includes both lectures and computer labs. Topics covered in the lectures include basic methods for describing data, the use of estimation and hypothesis testing, issues related to multiple comparisons and false detection, the use of parametric vs. nonparametric statistical methods and regression analysis. The focus of the computer lab will be to work on data analysis exercises using SAS software (or JMP for those who are Mac-based). Students will be able to analyze a small dataset of their own for their presentation. Offered in the Summer. [up]

CAMB 511: Principles of Development
2009 Syllabus
This graduate course, which will include lectures and readings from the literature, is designed to provide a foundation in the principles of developmental biology. Topics covered will include: fertilization and cleavage, gastrulation, germ layer formation, tissue specification, morphogenesis, tissue differentiation, and organogenesis. Molecular mechanisms by which pattern formation is generated will be considered in depth. The use of modern molecular biology, genetics, and embryological manipulations will be discussed in the context of the analysis of developmental mechanisms. Offered spring semester. [up]

CAMB 512: Cancer Genetics and Biology
2008 Syllabus
The course will involve lectures and readings of important papers on cancer genetics, cancer cell growth, metastasis, angiogenesis and experimental therapeutics. Offered spring semester. [up]

CAMB 530: Seminar in Cell Cycle and Cancer
This seminar course will focus on molecular events which regulate cell cycle transitions and their relevance to human cancer. Topics will include control of the G1/S and G2/M transitions, relationships between tumor suppressor genes such as p16, Rb, p53 or oncogenes such as cyclin D, cdc25A, MDM2 or c-myc and cell cycle control. Where appropriate, the focus will be on understanding regulation of cell cycle control through transcriptional induction of gene expression, protein associations, posttranslational modifications like phosphorylation or regulation of protein stability like ubiquitin degradation. Although achieving an improved understanding of mammalian cancer is a goal of the course, much of our knowledge of the cell cycle derives from work done in more genetically tractable organisms, such as yeasts, drosophila, and xenopus. Offered fall semester. [up]

CAMB 620: Molecular Mechanisms of Development
The goal of the seminar course is to promote a lively discussion about general strategies used by cells and organisms in solving fundamental problems occurring during development. We will cover issues raised within two broad topics, as students present classic and current papers from areas such as: Asymmetric Cell Division; Body Axis Formation; Induction and Cell Signaling; Secondary Axis (Limb) Formation; Organogenesis; Cell Differentiation; Cell Migration; Neurogenesis; Germ Cell Development. This focus will allow several sessions for each issue, enabling us to define the problems, and explore attempts to get at their solutions in different systems. Offered fall semester. [up]

CAMB 695: Scientific Writing
This 6-week course is designed for second year CAMB graduate students preparing for qualifying examinations. This course first introduces students to basic scientific writing skills. Participants will review the general principles of clear, persuasive writing, and will apply these principles to writing for a scientific audience. Particular emphasis will be placed on the structure, style, and contents of scientific papers and grant proposals. Each week students will complete a brief written exercise; the majority of class time will be spent in discussing student writing. Offered spring semester. [up]

CAMB 697: The Biology of Stem Cells
2008 Syllabus
This course will be directed towards second year PhD, MD/PhD, and VMD/PhD graduate students as an elective course and is intended as an introduction and in-depth discussion course focused on the biology of stem cells. The course will focus on basic mechanisms regulating self renewal, pluripotency and regeneration biology. Topics will include biology of the niche, spermatogonial stem cells, embryonic stem cells, epigenetics and reprogramming, cancer stem cells, regeneration, tissue engineering and one session will focus on legal and ethical issues. In addition, the course will focus on selected examples of adult stem cells with an introduction to translational medicine approaches involving stem cell biology. Course instructors will ensure continuity and will be responsible for evaluating the students, while visiting experts from the Penn community will deliver specialized lectures, choose appropriate papers relevant to their topic, and direct the related discussion sessions. In addition, the course will be integrated with a new Stem Cell Seminar series, whenever possible, and will provide the students with special interactions and access to visiting experts in the stem cell field. Offered spring semester. [up]

GCB 535: Introduction to BioInformatics
This course provides a broad overview of bioinformatics and computational biology as applied to biomedical research. Course material is geared towards answering specific biological questions ranging from detailed analysis of a single gene through whole-genome analysis, transcriptional profiling, and systems biology. The relevant principles underlying these methods will be addressed at a level appropriate for biologists without a background in computational sciences. This course should enable students to integrate modern bioinformatics tools into their research program. Offered fall semester. . [up]

GCB 536: Computational Biology
An introductory computational biology course designed for computational scientists. The course will cover fundamentals of algorithms, statistics, and mathematics as applied to biological problems. In particular, emphasis will be given to biological problem modeling. Students will be expected to learn the basic algorithms underlying computational biology, basic mathematical / statistical proofs and molecular biology. Topics to be covered are genome annotation and string algorithms, pattern search and statistical learning, molecular evolution and phylogenetics and small molecule folding. Offered spring semester. [up]

INSC 578 Behavioral Genetics
This course focuses on the use of genetic techniques to study the molecular and cellular bases of behavior. Particular emphasis will be given to the role of genetic approaches in understanding the biological processes underlying learning, memory storage, circadian rhythms and drug abuse. Reverse genetic approaches utilizing gene knockout and transgenic technology and forward genetic approaches using mutagenesis and quantitative genetic techniques will be discussed, as well as application of these studies to different model organisms (fly, zebrafish, mouse). Genetic approaches to behavior and complex disease in humans will be illustrated with the series of lectures on bipolar disorder and schizophrenia (Module 1) and neurodevelopmental and neurodegenerative disorders, such as mental retardation, autism and Asperger syndrome, Alzheimer’s disease and tauopathies (Module 2). Offered spring semester.

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