People with type 2 diabetes can have problems with the body not producing enough insulin and with cells in the muscles, liver and fat becoming resistant to it. Without sufficient insulin, or if cells cannot use insulin properly, cells are unable to take glucose from the blood and turn it into energy. Until now, scientists had not been able to identify the genetic factors contributing to insulin resistance in type 2 diabetes. In the new research published in Nature Genetics, scientists from international institutions including Imperial College London, McGill University, Canada, CNRS, France, and the University of Copenhagen, Denmark, looked for genetic markers in over 14,000 people and identified four variations associated with type 2 diabetes. One of these was located near a gene called IRS1, which makes a protein that tells the cell to start taking in glucose from the blood when it is activated by insulin. The researchers believe that the variant they have identified interrupts this process, impairing the cells' ability to make energy from glucose. The researchers hope that scientists will be able to target this process to produce new treatments for type 2 diabetes. "It is now clear that several drugs should be used together to control this disease. Our new study provides scientists developing treatments with a straightforward target for a new drug to treat type 2 diabetes," said Froguel. The most significant of these variations was located near the insulin receptor substrate 1, or IRS1, gene.
Sep 8, 2009
New Genetic Variation Linked To Diabetes
People with type 2 diabetes can have problems with the body not producing enough insulin and with cells in the muscles, liver and fat becoming resistant to it. Without sufficient insulin, or if cells cannot use insulin properly, cells are unable to take glucose from the blood and turn it into energy. Until now, scientists had not been able to identify the genetic factors contributing to insulin resistance in type 2 diabetes. In the new research published in Nature Genetics, scientists from international institutions including Imperial College London, McGill University, Canada, CNRS, France, and the University of Copenhagen, Denmark, looked for genetic markers in over 14,000 people and identified four variations associated with type 2 diabetes. One of these was located near a gene called IRS1, which makes a protein that tells the cell to start taking in glucose from the blood when it is activated by insulin. The researchers believe that the variant they have identified interrupts this process, impairing the cells' ability to make energy from glucose. The researchers hope that scientists will be able to target this process to produce new treatments for type 2 diabetes. "It is now clear that several drugs should be used together to control this disease. Our new study provides scientists developing treatments with a straightforward target for a new drug to treat type 2 diabetes," said Froguel. The most significant of these variations was located near the insulin receptor substrate 1, or IRS1, gene.
Sep 6, 2009
Sep 4, 2009
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Sep 2, 2009
Whole-Genome Sequencing: Any Useful Data?
ClinSeq is a pilot project to investigate the use of whole-genome sequencing as a tool for clinical research. By piloting the acquisition of large amounts of DNA sequence data from individual human subjects, we are fostering the development of hypothesis-generating approaches for performing research in genomic medicine, including the exploration of issues related to the genetic architecture of disease, implementation of genomic technology, informed consent, disclosure of genetic information, and archiving, analyzing, and displaying sequence data.
In the initial phase of ClinSeq, we are enrolling roughly 1,000 participants; the evaluation of each includes obtaining a detailed family and medical history as well as a clinical evaluation. The participants are being consented broadly for research on many traits and for whole-genome sequencing. Initially, Sanger-based sequencing of 300-400 genes thought to be relevant to atherosclerosis is being performed, with the resulting data analyzed for rare, high-penetrance variants associated with specific clinical traits.
He also mentioned the 1000$ genome project and the unofficial estimation is that now it’s possible to sequence a person’s genome for under 5000$ and the 1000$ aim can become a reality at the end of this year.
Aug 31, 2009
Personalized medicine: The Doctors are OK with this?
At the tune of 4.5 Million British Pounds!
This may work with CGCs, oh wait, they don't do much of anything in the UK system.
What about clinical geneticists?
Who?
Ok, scientists it is......
So I can just see it now.
A busy NHS practice, patients out the door, flu shot here, flu shot there and in rolls the "Scientist"
Clinician-"Oh hi, you must be the genetics guy sent from the government. Have a seat, I'll be right with you"
4 hours later
Scientist-Sitting nicely, waiting
Clinician-"Ok, lets chat over lunch"
Scientist-"Glad to be here, Let's talk about what a chromosome is"
Clinician-Scarfing down a sandwich "Ok, that was great, gotta go. I am double booked. See you in a few"
4 hours later
Scientist-Sitting Nicely, waiting
Clinician-"Sorry about that, I had a sickie and then the crazy lady....G-d where did the time go?"
Scientist-"See you tomorrow?"
Clinician-"You bet, I feel better prepared already"
As nice as this one is, I have already tried it with a clinical geneticist who actually can create billable events and see patients........ I am not so certain that going to the doctors will help as much as being on their iPhone or on a hotline.......