Genome-wide sequencing
A Clinical Option
09/03/11 00:18 Filed in: GenomeWeb Daily Scan
Based on the successful identification through genome-wide sequencing of a mutation associated with immune disorders on the X chromosome of six-year-old Nicholas Volker that could be behind his severe inflammatory bowel disease, it has been proposed by Howard Jacob, director the Human and Molecular Genetics Center at the Medical College of Wisconsin that similar genome sequencing should be a standard clinical option for children with rare, inherited diseases. S. Pelech comments that gene-wide-sequencing is impractical for the diagnoses of common diseases in the general population where most health care costs are borne. He also notes that in the case of Nicholas Volker's genome, it was not established that this mutation actually produces an immune disorder, nor was it clear that even with a causal link to the responsible gene that this knowledge could lead to an effective treatment. Read More...
Nancy Drew and the Mystery of the Whole Genome
16/06/11 14:50 Filed in: GenomeWeb Daily Scan
Blogger Richard Knox at the NPR Shots blog offered the example of Alexis and Noah Beery — 14-year-old twins afflicted with a rare disease called dopa-responsive dystonia — to show how knowledge from whole genome sequencing can provide more precise diagnosis and suggest effective disease therapy. S. Pelech questions whether it was even necessary to perform genome-wide sequencing of these twins, their parents and grandparents if the treating clinicians had a better understanding of basic biochemistry and performed obvious tests of serotonin levels, as it is well known that many cases of dystonia that are DOPA-responsive can arise from sepiapterin reductase (SPR) deficiency. Read More...
Saving Lives
05/07/11 15:40 Filed in: GenomeWeb Daily Scan
Matthew Herper in Forbes recounted how genome-wide sequencing has helped Sesha Lundell - whose son and nephews died in infancy of a rare disease that had also affected her brothers. Researchers were able to find the gene for the disease in 16 months, and this could potentially offer Ms. Lundell the opportunity to have children via in vitro fertilization, and select the embryos that don't have the gene. S. Pelech suggests that a better title for this blog should really have been "Eliminating Lives!" as undesirable embryos are killed off earlier. However, selection of embryos for implantation based on genetic information does provide for improved prospects to raise babies that have fewer in-born errors that culminate in malformations and disease. Read More...