7.342 Personal Genomics and Medicine: What’s in Your Genome?
Spring 2014
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Instructor: A. Zara Herskovits
Seminar: Wednesdays 9-11 am (68-151)
Information:
Human genome sequencing has revolutionized our understanding of
disease susceptibility, drug metabolism and human
ancestry. This course will explore how these advances
have been made possible by revolutionary new sequencing
methodologies that have decreased costs and increased throughput of
genome analysis, making it possible to examine genetic correlates
for a variety of biological processes and
disorders. Each student will have the opportunity
either to have the sequence of his/her own DNA determined or to
explore publically available genome reference samples to understand
what can be learned from examining genetic markers that can
correlate with disease risk, carrier status and medication
response. We will discuss how an individual’s risk of
developing a disease can be assessed based on small genetic changes
in nucleotide sequence as well as on larger structural variations
that affect entire regions of a chromosome. We will also
discuss how maternal ancestry, paternal lineage, and human
populations can be analyzed by examining chromosomal or
mitochondrial DNA. We will read papers from the scientific
literature to understand how genetic analysis is influencing
treatment for patients who have cancers with specific mutations
that can be targeted with tyrosine kinase inhibitors, such as
individuals with chronic myelogenous leukemia who have the BCR-ABL
gene fusion. Genomic analysis has also spurred the development
of new drugs that might be helpful for patients in the general
population, such as PCSK9 inhibitors for patients with
hypercholesterolemia, an approach that was driven by the
observation that people with a mutation in this gene have
abnormally low LDL cholesterol.
We will also debate social, legal and ethical aspects of genetic
testing.
The course will combine discussions of primary scientific research
papers with hands-on data analysis and small group
presentations. We will take a field trip to the Harvard
Medical School Center for Personalized Genetic Medicine and Medical
Genetics at the Brigham and Women’s Hospital to learn how genomic
sequencing informs clinical decision making.
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