Human Genetics Course Information Guide
HG541, Molecular Genetics, is a course that explores how the information content of the DNA genome is (i) organized, propagated, and altered, and (ii) functionally expressed by regulated transcription into RNA - the core molecular properties and processes of genetic systems that underlie all further investigations of organismal, clinical, and population genetics. As a graduate level course, it is expected that students will enter HG541 with a basic understanding of the nature of biological systems, DNA, RNA, replication, and transcription. HG541 will focus on developing an advanced modern understanding of these molecules and reactions. We will explore what experimental research in model organisms and humans has taught us about the molecular encoding of genetic information while simultaneously exposing gaps in our understanding. Throughout, attention will be given to newer genome-wide analysis methods that are dramatically increasing our understanding of the extent of genetic variation and the many modes of gene expression. Also, students will be introduced to recombinant DNA technologies as one important way that molecular genetic insight is reduced to practice in biological research. Upon completion of HG541, students will appreciate the directions research in molecular genetics is heading and be able to draw on this insight as they pursue further studies and research in diverse areas of genetics and biology.
How do geneticists study families or populations of individuals with a genetic disease to identify the disease-associated mutations? How does a mutation in the human genome lead to a specific disease phenotype? How can this genetic information be used to benefit patient populations? What do genetic diseases tell us about the basic biology of the human body? These are just a few of the questions that Human Genetics 542 (HG542) “Molecular Basis of Human Genetic Disease” addresses using examples from the current and classical literature. HG542 emphasizes strategies for mapping disease-associated genetic variation, the design and interpretation of experiments to characterize the molecular pathology of implicated mutations, and how these discoveries are moved into the clinic. The course begins with examples of how to map and characterize Mendelian (single-gene) disorders and then moves into more complicated issues including mitochondrial, digenic, and complex diseases, and how the environment can affect these phenotypes. From there, the focus turns to specific mechanisms of mutagenesis and the associated phenotypes including large and small chromosomal rearrangements, epigenetic modifications, alterations in sex determination genes, prions as an example of “necessity” and “sufficiency”, and cancer genetics. The course ends with a discussion on how genetic discoveries are converted to genetic tests, how these tests are selected for an individual patient, and how this selection process applies to different life stages. HG542 is an essential course for anyone interested in molecular genetics and human variation as it relates to human disease.
The concepts and analytic methods for studying variation in human populations are the subject matter of this course. The topics covered include the distribution of genetic variation, major forces of genetic stasis and change, quantitative traits, linkage analysis, association tests, and the role of the environment. We take a problem solving approach and present the basic models of population, quantitative, and statistical genetics at a mathematical level appropriate to students in the life sciences. Our focus is on current human genetics research. However, most of what we present is broadly useful and applies to natural populations of other species.
Introduction to the theory and practice of genomic data analysis. Includes DNA sequence mapping and assembly, variant calling, gene expression analysis, and gene network analysis. This course will introduce the use of Python for manipulation of data. The course project will require use of existing genomics tools on a distributed linux computer cluster.
This seminar and reading course is focused on cellular and molecular aspects of mammalian developmental neurobiology. Genetic and epigenetic principles underlying the emergence and maintenance of the mammalian nervous system will be explored in the context of human disorders that lead to structural brain abnormalities, intellectual disability and autism. The intent of this course is to present current topics in developmental neuroscience in the context of animal models and human diseases that have contributed to our understanding of the biochemical, molecular and cellular processes of brain development and function. Graduate students are required to write an analysis of a primary research paper to receive graduate level credit for HG580.
This course consists of a series of seminars and discussions on a special topic of interest to students, presented by invited speakers over several weeks each semester. The seminars are open to the University community. Registration for this course is limited to PIBS students, graduate students in CMB, and students supported by the Predoctoral Genetics Training Program. These “short courses” are coordinated and sponsored cooperatively by the CMB Program and the Genetics Predoctoral Training Program.
The Human Genetics "Advanced Topics in Genetics" course (HG803) will be offered in Winter semester 2016. The field of Human Genetics has grown dramatically in recent years, in large part due to rapid advances in new technologies for discovery and the explosion of new data and resources. HG803 provides students with an opportunity to learn about cutting edge technologies, new mechanisms of genetic regulation, and the application of experimental approaches to genetics research.
Topics for Winter 2016 will include the following:
• New therapeutic approaches to genetic disease including modification of endogenous gene expression, post-translational processing,
RNAi mediated gene knockdown, pathway modification, alteration of splicing, suppression of repeat expansion, and success with small
molecules in intractable diseases
• Somatic mosaicism in human genetic disease
• Modeling epigenetic regulation through X inactivation
• Sex chromosomes
• New technologies to measure and predict variant effects
• Effect of structural haplotypes on disease risk
• Genetic manipulation of model organisms including CRISPR/Cas9 mediated genome engineering
• Exploring the genetic basis of autism and neuropsychiatric disease
• Human pluripotent stem cell models of neurological development and disease
• Computational and functional characterization of transcriptional regulation important for human development and disease
• Complexity of histone modifications and state of the art methods of characterization
Recently published research manuscripts from the genetics field will be discussed during each of the weekly sessions. The class places a heavy emphasis on student-led presentations, critical analysis and active participation from all students enrolled in the course. Grading in HG803 is based on class participation--there are no exams. HG803 (2 cr) meets twice weekly for 2-hour sessions; class size is limited to 15. Course Director: Jeff Innis
In order to enhance knowledge of topics in genetics-related research as well as critical thinking and seminar presentation skills, students present papers from the current genetics literature. Students in the Department of Human Genetics are required to register and participate in 4 semesters of HG821/822; presentations are required in two of these semesters. All students participate in weekly practice sessions for the speakers and in post-presentation reviews.