Over the past year, several market reports have predicted that in the new world of pharmaceuticals - post-patent cliff, post-blockbusters, post-biosimilar onset -- much more attention will be spent on developing drugs for orphan or rare disease applications. As further evidence of this trend, several Big Pharma companies have in fact announced their investment into these areas. See examples from Pfizer and Sanofi. Both the FDA and the NIH have discussed how they see their support increasing in this area. And, the Senate passed a new bill that looks to spur funding and development in the rare disease arena.
With this backdrop, we have a report this morning, in Medical News Today, that molecular scientists at Max Planck and at Charite Universitatsmedizin Berlin have succeeded in a whole genome screening process to - in this case - identify disease genes for Mabry Syndrome in 3 patients. They were able to track down individual mutations in the genome and connect these with the disease. The researchers relied on high throughput sequencing technology to identify the defect.
"It was like the proverbial search for a needle in a haystack. We fished out solely the 22,000 genes from the entire genome, decoded their sequence and examined them for mutations. Using new bioinformatic analyses, we were able to limit the number of mutation candidates to two, one of which is ultimately responsible for Mabry Syndrome" explains Michal Ruth Schweiger from Max Planck.
The methods developed here enable the identification of mutations even in very rare diseases and could help speed our introduction to the era of personalized medicine. Certainly, these type of diagnostic tests will aid in drug discovery and development as well -- and will complement efforts by the other players described above.
Posted by Bruce Lehr September 7th 2010.