Making Science Possible

I have previously discussed that funding for research into a cure for Alzheimer's Disease and other diseases takes a tremendous amount of funding from a variety of sources.  Today, I'd like to highlight one grant to one lab and what is happening there.

In October 2012, the Cure Alzheimer's Fund gave $5.4Million to the Genetics and Aging Unit at Massachusetts General Hospital to support whole genome DNA sequencing in the search for the genetic causes of Alzheimer's.   This gift is just a portion of the $7.6Million the organization has given this lab's Alzheimer's Genome Project over the past 8 years.  These gifts have played a substantial role in the lab's discovery that familial early on-set Alzheimer's is not just a result of three gene mutations as has been previously found.  Familial early on-set Alzheimer's disease can also result from copy-number variants (CNVs) in the DNA.

Copy-number variants are sections of a chromosome which has too many or too few copies of a DNA section.  They are actually fairly common in the human genome.  The CNVs which are factoring into familial early on-set Alzheimer's, however, are rare and not previously identified as possible risk factors for Alzheimer's.  They had previously been identified as having neuronal functions.

The impact of this finding is not yet known.  However, as always, it may prove beneficial to finding a treatment related to a particular cause of the disease.


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