Diagnostics
Early Arrival
07/11/12 13:27 Filed in: GenomeWeb Daily Scan
In Lancet Neurology, a team of researchers reported a high prevelance of mutations in the presenilin 1, or PSEN1, gene linked to Alzheimer's that were apparent in 20 of 44 young adults from Colombia at least 20 years before the onset of symptoms. Apart from differences in brain structure and function between the two groups, the researchers also detected increased cerebrospinal fluid levels of amyloid beta. S. Pelech notes that in many clinical studies with Alzheimer's patients, there is actually usually a DECREASE in the level of the pathogenic 42 kDa beta-amyloid (A-beta42) protein in their CSF relative to healthy controls and patients with Parkinson's disease and progressive supra nuclear palsy. He further describes research at Kinexus Bioinformatics Corporation using antibody microarrays that uncovered 36 proteins that displayed abnormal phosphorylation or expression in peripheral blood lymphocytes from Alzheimer's patients as compared to controls that were only mildly cognitively impaired or had other neurological disorders. Read More...
A Good Biomarker Is Hard to Find
17/08/10 20:32 Filed in: GenomeWeb Daily Scan
Blogger Monica Desai of the Guardian's science blog noted that despite the discovery of thousands of biomarkers, only a small percentage reach the clinic so expectations need to be tempered about the finding of a promising new biomarker. S. Pelech observes that if one considers that many common diseases such as cancer arise from particular combinations of defective proteins, then it becomes feasible to not only provide an accurate diagnosis based on monitoring of multiple biomarkers but also to develop effective strategies for therapeutic intervention. Read More...
Early-Warning DNA Sequencing System
21/09/10 15:12 Filed in: GenomeWeb Daily Scan
Using DNA sequencing, researchers at Pacific Biosciences have started a project called the Disease Weather Map, which monitors viruses from locations like sewage stations, toilet handles, and people's mouths, in an effort to measure pathogen flux over time and track the emergence of new pathogen variants. S. Pelech comments that a cost-benefit analyses of doing this should quickly reveal its impracticality, and that it would be much cheaper to track where and when people are getting sick, and then rapidly identify the culprit. Read More...
Not So Useful?
17/02/10 11:32 Filed in: GenomeWeb Daily Scan
Tracking 101 SNPs linked to the incidence of cardiovascular disease in 19,313 Caucasian women for a median of 12.3 years failed to show any better discrimination than self reported family history. S. Pelech argues that environmental factors may play a much stronger role in the development of cardiovascular diseases, which may have more complex and diverse etiologies than generally appreciated. Read More...