In what has proved to be an invaluable database for scientists studying diseases of all kinds, the privately-funded St. Jude Children’s Research Hospital-Washington University Pediatric Cancer Genome Project has recently released a vast trove of human cancer genome data, which is available to researchers worldwide on request.
It has recently been found that people with an inherited mutation in the TP53 gene are much more likely to show signs of chromosome explosion, a condition called chromothripsis which is known to cause cancer.
I attended the Xconomy Forum last week on “Computing in the Age of the $1000 Genome”.
I found it fascinating, and while the focus was certainly much broader than telomere science and healthy aging, there were a number of great comments made by leading experts in the Human Genome that are very very relevant. Here are some of my favorites:
“In your cells right now, an enzyme is making a copy of your DNA in less than two hours, right in the nucleus.”
~ Hugh Martin, Pacific Biosciences
“For all this amazing genomic info to have an impact, we really need to invite the person into personalized medicine.”
~ Ashley Dombkowski, 23andme
A recent study has found that short, frayed telomeres in an individual are the cause for the production of a toxic protein which plays a role in aging. The protein, called progerin, is is also the cause of a rare genetic disease in children called progeria which causes aging at seven times the normal rate. This suggests that aging may be a distinct biological mechanism triggered by factors such as short telomeres, and not just a wearing out of cells over time, as has been previously thought.