COURSE DESCRIPTION: In recent years, it has been clearly established that most human diseases have a genetic basis. Determining the basis of rare single gene disorders and more common complex disorders has been facilitated by the development of genome-wide approaches. Included here are genome wide association, targeted sequence capture, massively parallel sequencing, array comparative genome hybridization, model organism screening, expression profiling, and epigenomic assays. This course will focus on utilization of these methodologies to uncover the cause of rare and common diseases. We will also discuss how invertebrate and mammalian systems can be used to elucidate the relationships between genetic variation and gene function. Since doing human genetics research involves collaborations, we will invite clinicians, statisticians and basic scientists to facilitate sessions. The course will be technology oriented but examples from specific disease entities will be used to illustrate the power of the technologies discussed.
COURSE FORMAT: In sessions 1 and 2, course leaders will review in lecture format, aspects of gene identification and characterization. Each class will focus on a faculty-identified research paper of interest. Following a short introduction by the faculty leader students will present the work in greater detail and discuss. The presentations will constitute 30% of the final grade and active participation the remaining 70%. There will be no final exam.
REQUIRED MATERIALS: Computer
PREREQUISITES: Yes. Students enrolled in this are required to have completed the Einstein Molecular Genetics course (or equivalent).
STUDENT PREPARATION: A conceptual understanding of methodologies now in use in genetics research. Included here are: genome wide association, massively parallel sequencing, array comparative genome hybridization, and gene expression profiling.
SUITABLE FOR 1ST YEAR STUDENTS: No
UNIQUE TRAINING OFFERED IN THIS COURSE: Students will be given the opportunity to present and discuss seminal papers in genetic research in a journal club – like format. No current overlap with other courses.
STUDENT ASSESSMENTS: The presentations will constitute 30% of the final grade and active participation the remaining 70%. There will be no final exam.
THE COURSE IS LIMITED TO A GROUP OF 20 STUDENTS
CREDIT HOURS: 2.0