Friday, 7 may 2010

Surrogate Markers
07:00 MR Metrics as Biomarkers for Pharma Studies
Paul M. Matthews, M.D., Ph.D.
07:30 The Lesson of MS: Is MRI Useful as Surrogate Marker?
Maria Pia Sormani, Ph.D.
PLENARY SESSION

Genotyping & MR Phenotyping

Room A1 08:15-09:35 Organizers & Moderators: Jeff W.M. Bulte and Stefan Sunaert

08:15 681. Genotyping and Anatomical Abnormalities

Alan F. Scott, <sup>1

1</sup>Johns Hopkins University School of Medicine, Baltimore, MD, United States

The advances in human genetics during the past three decades have resulted from a series of technological and organizational breakthroughs. As the limits of genotyping are realized a renewed emphasis on cheaper and faster sequencing approaches has emerged and various new and exciting approaches to whole genome sequencing are fast appearing. This talk will outline some of the technologies that have been and are being developed to increase the speed and accuracy of genetic data and how such information will revolutionize the way medicine is practiced for the rest of the century.

08:40 682. MR Imaging for Mouse Phenotyping

R. Mark Henkelman<sup>1

1</sup>Hospital for Sick Children, Toronto, ON, Canada

Comprehensive phenotyping of large numbers of mutant mice is laborious and expensive. Three-dimensional imaging is a promising approach for providing overviews of anatomical and functional phenotypes. This talk will describe some of the developments in high throughput imaging methods such as MR, X-ray CT, and optical imaging. Equally, or even more importantly, quantitative computer methods for analyzing differences in the 3D sets will be described. Example applications to a variety of mutants will be shown. Particular emphasis will be given to imaging of embryonic mutations given the expected large numbers of embryonic lethals from the single gene knockout programs.

09:05 683. Genetic Dysregulation and White Matter MR Phenotype

Marjo S. van der Knaap<sup>1

1</sup>VU University Medical Center, Amsterdam, Netherlands

Different causes, both genetic defects and acquired causes, for white matter disorders lead to different patterns of abnormalities on brain MRI. These patterns are homogeneous among patients with the same disorder and different for patients with other disorders. These different and consistent MRI phenotypes can be used to diagnose known disorders and to identify novel disorders. The MRI phenotypes are based on selective vulnerability of brain structures and parts of structures for different adverse influences. Similarities in MRI phenotypes may reflect similarities in basic defects or pathophysiological mechanisms.