We already have the largest genetic study ever conducted on Alzheimer’s. And we’re one step closer to curing it

  • 54

The largest genome-wide association study to date with Alzheimer’s patients just published and its conclusions, although they do not clarify the origin of the problem, open a very interesting way to face face to face with a disease as terrible as it is elusive. We still do not know what genetic pathways this disease uses to grow in the brain, now we have good options where to start tracking it.


A ravenous monster called Alzheimer’s. Described for the first time in 1906 by Alois Alzheimer, this neurodegenerative disease is, today, the most frequent cause of dementia in the West (between 60 and 80% of all dementias) and everything indicates that will keep growing. In Spain alone it already affects more than one million of people and in the coming decades, with the progressive aging of the population throughout the world, experts expect that the number of people will triple.

The mysterious ways of genetics. Because, although we know that there are genetic bases in the disease, we have not yet been able to identify them. We know that it is a complex process and that it is obviously multifactorial, but our lack of knowledge at the genomic level limits the understanding and treatment of Alzheimer’s.

The United States approves the first drug against Alzheimer's in two decades and does so surrounded by controversy

Therefore, one of the main lines of research is the characterization of genetic risk factors. This would open the door to identify physiopathogenic processes and, by rebound, to design drugs capable of targeting new therapeutic targets. The problem is that it is easier said than done.

The largest genomic study to date. In this case, the genome-wide association study (GWAS) has been coordinated by the National Institute of Health and Medical Research of France and has analyzed the genome of 111,326 diagnosed patients and 677,663 people without the disease. With this large amount of data, researchers are able to extract common aspects associated with the disease.

75 regions. researchers They have found 75 regions of the genome associated with the disease. But the most interesting thing is not that, the interesting thing is that 42 of them are new. That is, there is no previous evidence linking them to Alzheimer’s.

We have been wondering for years if Alzheimer's is a collateral damage of the immune system and now we are beginning to have answers

Furthermore, after studying these regions in the light of our clinical and biophysiological knowledge, the researchers discovered that some of them are involved in the production of amyloid peptides and in the functional modification of the Tau protein. Two of the phenomena most intimately linked to the evolution of the disease.

much to do. Perhaps most promising of the work is that the team has designed a genetic risk scoring system to better assess which patients will develop the disease within three years. This tool (for technical reasons) is not intended for clinical use, but it will allow future research to be fine-tuned and work to be fully started on identifying the weak points of this disease.

The largest genome-wide association study to date with Alzheimer’s patients just published and its conclusions, although they do not clarify…

The largest genome-wide association study to date with Alzheimer’s patients just published and its conclusions, although they do not clarify…

Leave a Reply

Your email address will not be published.