Impacts of Genomics on Translational Research and Medicine

A half-day seminar sponsored by the Genomics Core Facility, Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University

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8:45 am
Elaine Mardis, PhD, Washington University in St. Louis
Genome-wide Discovery of Cancer’s Genetic Basis
The capacity and cost of re-sequencing human genomes using next-generation DNA sequencing technology has inspired The Genome Center at the Washington University School of Medicine to embark on a large-scale research project to discover the genetic basis of carcinogenesis. Mardis's talk will review the methods they are using, highlighted by specific examples, and will give an overview of their progress and findings to-date.

9:30 am
Nancy B. Spinner, PhD, The Children’s Hospital of Philadelphia
Array Based Testing for Clinically Relevant Deletions and Duplications
Nancy Spinner will cover the development and use of array-based testing in the clinical laboratory. The evolution of the technology for diagnosis of clinically significant deletions and duplications will be covered. She'll present highlights of recently discovered syndromes, utility of SNP arrays for mosaicism detection, and current dilemmas in the field posed by overlap of patient and control findings.

10:30 am
Ellen Clayton, JD, MD, Vanderbilt University
Informed Consent and What Else in the Genomics Era?
Informed consent locates decision making about research participation in the individual. What role should informed consent play in studies involving SNP arrays, access to electronic medical records, and the creation of large datasets that reach across institutional and national borders? How should respect for persons, autonomy, risks, and benefits to the individual and to society be weighed? If, as some would argue, individual choice should not always govern, then what other sorts of oversight and accountability should be put in place?

11:15 am
Muin J. Khoury, MD, PhD, Centers for Disease Control and Prevention
Public Health Genomics: the Science of Discovery to the Science of Health Impact
Muin Khoury will discuss the widening gap between scientific discovery and health impact, and describe the field of public health genomics as one that attempts to close this gap, using examples of public health genomics activities from the CDC and elsewhere.

Attendance is free, but is RSVP required.

CLICK HERE TO REGISTER.

Complimentary continental breakfast will be provided beginning at 8:00 am.

Please email genomics-core@cgm.northwestern.edu for more information.