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Neurological Review
November 2006

The Future of Genomic Profiling of Neurological Diseases Using Blood

Author Affiliations

Author Affiliations: Department of Neurology and Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California–Davis, Sacramento (Drs Sharp, Xu, Walker, Apperson, D.-Z. Liu, Pinter, Zhan, X. Liu, and Ran and Ms Lit); and Department of Pediatric Neurology, Cincinnati Children's Hospital and Medical Center, Cincinnati, Ohio (Drs Gilbert, Glauser, Wong, and Hershey).



Arch Neurol. 2006;63(11):1529-1536. doi:10.1001/archneur.63.11.1529

Sequencing of the human genome and new microarray technology make it possible to assess all genes on a single chip or array. Recent studies show different patterns of gene expression related to different tissues and diseases, and these patterns of gene expression are beginning to be used for diagnosis and treatment decisions in various types of lymphoid and solid malignancies. Because of obvious problems obtaining brain tissue, progress in genomics of neurological diseases has been slow. To address this, we demonstrated that different types of acute injury in rodent brain produced different patterns of gene expression in peripheral blood. These animal studies have now been extended to human studies. Two groups have shown that there are specific genomic profiles in the blood of patients after ischemic stroke that are highly sensitive and specific for predicting stroke. Other recent studies demonstrate specific genomic profiles in the blood of patients with Down syndrome, neurofibromatosis, tuberous sclerosis, Huntington disease, multiple sclerosis, Tourette syndrome, and others. In addition, data demonstrate specific profiles of gene expression in the blood related to different drugs, toxins, and infections. Although all of these studies are still preliminary basic scientific endeavors, they suggest that this approach will have clinical applications to neurological diseases in humans.