SNP's in the human act gene correlates well with susceptibility to early-onset Alzheimer's Disease. Researchers have developed a test that could determine the presence of SNP's, which would allow therapeutic treatments to begin early.

The test works by detecting two SNP markers in one human gene. Specific base substitutions of the SNPs have been shown to correlate with the early-onset of Alzheimer's Disease (AD).

The study was carried out by a team of researchers at The University of Nottingham.

The test works by detecting two SNP markers in one human gene. Specific base substitutions of the SNPs have been shown to correlate with the early-onset of Alzheimer’s Disease (AD). This early-onset syndrome presents in patients younger than 65 years and is accompanied by a significant increase in astrocyte activity in the brain and a rapid cognitive decline. It is the combination of two SNPs which are very informative of the probability of a patient developing early-onset AD.
 
An early diagnosis of the disease would mean that treatment could start much sooner than is currently possible. This would widen the window of opportunity during which drugs such as those based on anticholinesterase inhibition have efficacy and thus maximize their benefit by slowing disease progression to the fullest extent currently possible.

This SNP assay moves diagnosis of AD away from semi-quantitative cognitive tests and diagnoses of elimination to give a more definitive answer which could lead to real benefits for sufferers.

An academic publication describing the work which generated the SNP assay has been published:
“A SNP in the ACT gene associated with Astrocytosis and rapid cognitive decline in AD.” (2007) Belbin et al. Neurobiology of Aging, (In Press, but available on-line).

The SNP test has been shown to work in principle but would now benefit from a commercial entity taking the test from the lab to the market-place. 

Early Stage

A patent has been applied for by the University. This has entered PCT but has not yet been published.

However, an academic publication describing the work which generated the SNP assay has been published:
“A SNP in the ACT gene associated with Astrocytosis and rapid cognitive decline in AD.” (2007) Belbin et al. Neurobiology of Aging, (In Press, but available on-line).

The University is looking for licensees or partners to take the technology from a functional lab test to a medical diagnostic product.