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Department of Human Genetics

This is an archived copy of the 2012-13 catalog. To access the most recent version of the catalog, please visit

Interim Chair: Carole Ober

  • Professors
  • Habibul Ahsan, Health Studies
  • Graeme Bell, Biochemistry and Molecular Biology
  • Nancy Jean Cox, Medicine 
  • Soma Das
  • Anna Di Rienzo
  • T. Conrad Gilliam
  • Richard Hudson, Ecology and Evolution
  • Bruce T. Lahn
  • Michelle M. Le Beau, Medicine
  • Elizabeth McNally, Medicine
  • Mary Sara McPeek, Statistics
  • Carole Ober 
  • Jonathan Pritchard
  • Molly Przeworski
  • Janet D. Rowley, Medicine
  • Andrey Rzhetsky, Medicine
  • Matthew Stephens
  • Joe Thornton
  • Olufunmilayo Olopade, Medicine
  • Darrel J. Waggoner
  • Kevin White

Associate Professors

  • Mark Abney
  • Yoav Gilad
  • Marcelo Nobrega
  • John Novembre
  • Abraham Palmer
  • Marion Verp, Obstetrics and Gynecology

Assistant Professors

  • Daniela Del Gaudio
  • Vincent  J. Lynch

The Department of Human Genetics offers training in a number of fields of human genetics such as human disease, classical genetics, complex trait genetics, population and evolutionary genetics, cytogenetics, neurogenetics, systems biology, pharmacogenetics and developmental human genetics. This coursework is intended for graduate students who plan to pursue research careers and teaching in the emerging areas of modern biology, and is intended for medical students, advanced undergraduate and graduate students in other departments. The Ph.D. program places great emphasis on sound preparation in human genetics, statistical genetics, and molecular biology.

The Degree of Doctor of Philosophy

A Ph.D. candidate must fulfill certain formal coursework requirements, pass one preliminary and one qualifying examination, and present a satisfactory dissertation describing the results of original research.

The department expects a knowledge of and proficiency in human genetics. This requirement will normally be met by fulfilling the formal coursework described here, but degree programs are flexible. Courses taken at other institutions, in other departments, or as part of the Medical School curriculum may substitute for HG courses with approval of the Curriculum Committee. To fulfill the requirements for a Ph.D. nine graded courses are required. In the Department of Human Genetics, a student must take the following three required courses:

MGCB 31400Genetic Analysis of Model Organisms100
HGEN 47000Human Genetics-1100
HGEN 46900Human Variation and Disease100
One of the following:
HGEN 47100Intro Statistical Geneticstrue
MGCB 31500Genetic Mechanismstrue
DVBI 35600Vertebrate Developmental Biologytrue
MGCB 31300Molecular Biology-IItrue
ECEV 35600Principles of Population Genetics-1true

The remaining 4 courses are electives chosen from a host of courses in the Biological Sciences Division and Statistics Department. All courses are to be approved by an assigned academic advisor. These courses and many more are designed to develop greater proficiency in your particular sub discipline.

A student is also required to do two laboratory rotations before selecting an advisor and laboratory in which to pursue a Ph.D. dissertation. These rotations will be graded and together will be equivalent to one elective. All students are required to serve as teaching assistants for two quarters.

During the second year, students select a thesis advisor and begin laboratory research. To complete the Ph.D. degree, they must prepare, under the general direction of an appointed doctoral committee, a dissertation based upon their original research. A public seminar describing the results of the dissertation research must be presented and the dissertation must be successfully defended before the doctoral committee.


For information about applying to our graduate program, please visit our website at .

Human Genetics Courses

HGEN 30400. Protein Fundamentals. 100 Units.

The course covers the physical‑chemical phenomena that define protein structure and function.  Topics include:  the principles of protein folding, molecular motion and molecular recognition; protein evolution, design and engineering; enzyme catalysis; regulation of protein function and molecular machines; proteomics and systems biology.  Workshop on X-ray Crystallography: The workshop is an addendum to Protein Fundamentals and is required for all BCMB students. This one week workshop will provide students with an intensive introduction to protein structure determination by x-ray crystallography. In addition to lectures, an extensive laboratory component will give students the opportunity to carry out protein crystallization, data collection (at Argonne), structure determination, refinement, model building and validation.

Instructor(s): Robert Keenan, Shohei Koide, Joseph Piccirilli     Terms Offered: Autumn
Equivalent Course(s): BCMB 30400,GENE 30400,MGCB 30400

HGEN 31100. Evolution of Biological Molecules. 100 Units.

This introductory graduate-level course connects evolutionary changes in genes and genomes with the structure, function and behavior of the protein and RNA molecules they encode.  Our central themes will be the mechanisms and dynamics by which molecular structure and function evolve, how protein/RNA architecture shapes evolutionary trajectories, and how patterns in present-day sequences can be interpreted to reveal the interplay data of evolutionary history and molecular properties.  We will teach core concepts in both macromolecular biochemistry (folding and stability of proteins and RNA, structure-function relationships, kinetics, catalysis) and molecular evolution (selection, mutation, drift, epistasis, effective population size, phylogenetics) and specifically explore the interplay between them. Students will derive and simulate evolution using molecular-level models; analyze empirical structure, function and sequence data in an evolutionary framework; and, through discussion and reading of classic and recent literature, trace the development of key ideas in molecular evolution up to the present day.

Instructor(s): D. Allan Drummond, Joseph Thornton     Terms Offered: Winter
Prerequisite(s): Comfort with basic computer programming (course will use Python and R); undergraduate biology, chemistry, calculus, and introductory statistics.
Equivalent Course(s): ECEV 31100,BCMB 31100

HGEN 31400. Genetic Analysis of Model Organisms. 100 Units.

Fundamental principles of genetics discussed in the context of current approaches to mapping and functional characterization of genes.  The relative strengths and weaknesses of leading model organisms are emphasized via problem-solving and critical reading of original literature.

Instructor(s): A. Palmer, D. Bishop, E. Ferguson, J. Malamy     Terms Offered: Autumn
Equivalent Course(s): DVBI 31400,BCMB 31400,MGCB 31400

HGEN 31600. Cell Biology I. 100 Units.

Eukaryotic protein traffic and related topics, including molecular motors and cytoskeletal dynamics, organelle architecture and biogenesis, protein translocation and sorting, compartmentalization in the secretory pathway, endocytosis and exocytosis,and mechanisms and regulation of membrane fusion.

Instructor(s): Aaron Turkewitz, Ben Glick     Terms Offered: Autumn Quarter

HGEN 31900. Introduction to Research. 100 Units.

Lectures on current research by departmental faculty and other invited speakers. A required course for all first-year graduate students

Instructor(s): Staff     Terms Offered: Autumn, Winter Quarters
Equivalent Course(s): MGCB 31900,BCMB 31900,DVBI 31900,GENE 31900

HGEN 46900. Human Variation and Disease. 100 Units.

  This course focuses on principles of population and evolutionary genetics and complex trait mapping as they apply to humans. It will include the discussion of genetic variation and disease mappeing data. Spring

HGEN 47000. Human Genetics-1. 100 Units.

This course covers classical and modern approaches to studying cytogenic, Mendelian, and complex diseases. Topics include chromosome biology, single gene and complex disease, non-Mendelian inheritance, cancer genetics, human population genetics, and genomics. The format includes lectures and student presentations. Autumn

HGEN 47100. Intro Statistical Genetics. 100 Units.

This course focuses on genetic models for compex human disorders and quantitative traits. Topics covered also include linkage and linkage disequilibrium mapping and genetic models for complex traits, and the explicit and implicit assumptions of such models. Winter

Equivalent Course(s): BIOS 21216,GENE 47100

HGEN 47300. Genomics and Systems Biology. 100 Units.

This lecture course explores the technologies that enable high-throughput collection of genomic-scale data, including sequencing, genotyping, gene expression profiling, assays of copy number variation, protein expression and protein-protein interaction. We also cover study design and statistical analysis of large data sets, as well as how data from different sources can be used to understand regulatory networks (i.e., systems). Statistical tools introduced include linear models, likelihood-based inference, supervised and unsupervised learning techniques, methods for assessing quality of data, hidden Markov models, and controlling for false discovery rates in large data sets. Readings are drawn from the primary literature.

Instructor(s): Y. Gilad, D. Nicolae     Terms Offered: Spring
Prerequisite(s): STAT 23400 or Statistics in the Biomath Sequence
Equivalent Course(s): BIOS 28407,BPHS 47300,CABI 47300,IMMU 47300

HGEN 47400. Introduction to Probability and Statistics for Geneticists. 100 Units.

This course is an introduction to basic probability theory and statisticalo methods useful for people who intend to do research in genetics or a similar scientific field. Topics include random variable and probability distributions, descriptive statistics, hypothesis testing and parameter estimation.  Problem sets and tests will include both solving problems analytically and analysis of data using the R statistical computing environment.

Instructor(s): Abney, Skol     Terms Offered: Autumn