The real promise of genomics will not be realized until individual patients enjoy improved medical outcomes due to the understanding that genome sequencing can bring to their treatment. At the BCM-HGSC we are working together with Jim Lupski and other BCM collaborators to demonstrate that this promise can be a reality with current DNA sequencing technology.
Sequencing to Solve Genetic Disease
Our current focus is on Charcot-Marie-Tooth (CMT) disease, an inherited peripheral neuropathy with both demyelinating (CMT type 1, CMT1) and axonal (CMT2) forms, distinguished by electrophysiologic and/or neuropathologic studies. CMT has been used as a model disease to describe genetic heterogeneity, to posit the relation of hereditary pattern to clinical severity, and to investigate the relative importance of principal and modifying genes in determining human diseases. It’s role as a model for genetic disease makes it the ideal starting point for these early studies in medical genomics.
Currently we have sequenced the whole genome of one CMT patient, and are progressing to sequence additional samples within that patient’s family, as well as identifying other patients that may benefit from these early experiments.