For all of the policy posts here on Doctor Pundit, it is especially cool when we’re able to relay news based upon purely scientific discovery. It’s even more amazing if that discovery will lead to even more treatment avenues than previously expected or planned for. (I guess Pharma is taking note.) Research into the pathophysiology of Alzheimer dementia (AD) continues at its earnest and deliberate pace. Each new genetic breakthrough finding gives greater insight in to previously known pathways into the development of the disorder. It’s been long known for the past 10 years, or so, that the altered tau protein hypothesis has been increasingly critical to the understanding of the progression of the disease after diagnosis. Consequently, drug development has focused on preventing or reversing the incidence of these and other proteins responsible for progression into the moderate phase of the disease. Researchers at U Penn and in the United Kingdom have verified the existence of five new genes implicated in the very initial development in the pathology of AD. The findings are significant, as everything from laboratory testing based upon genomic information to sites of drug action can be gleaned from this discovery. All of this means that the initial development of disease is just as important to understanding how the disorder progresses.
The ADGC’s study, led by Gerard D. Schellenberg, Ph.D., at the University of Pennsylvania School of Medicine, involved researchers at 44 universities and research institutions in the U.S. The consortium analyzed genetic data from 11,000 AD patients and nearly the same number of elderly controls with no dementia. Three additional institutes contributed confirmatory data from new individuals, taking the total number of people analyzed in the study to over 54,000.
Amid all the fanfare of this news, it is important to note that we are no closer to obtaining information on the exact susceptibility of one for AD (remember apolipoprotein E?), but the breadth of information contained within this novel genetic discovery is enough to drive innovation in this sector of medical research.