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Writer's pictureSébastien GENTY

Alzheimer's and Protective Genetic Variants: A New Hope for Prevention




Here is a topic that touches me deeply for personal reasons (needless to say), and I couldn't read articles on this subject without wanting to try to share information that restores hope. Indeed, Alzheimer's disease, this silent scourge affecting millions of people worldwide, is often perceived as an inevitability linked to aging. However, recent research has shed new light on this disease, with the discovery of genetic variants that could offer protection against its development. This scientific breakthrough promises to transform our approach to the prevention and treatment of this devastating disease.

What is a protective genetic variant?

First, it is important to understand what a protective genetic variant is. Our genes are complex codes that dictate many aspects of our health, including our susceptibility to certain diseases. In the case of Alzheimer's disease, certain genetic variants have been identified as increasing the risk of developing the disease. However, there are also rare variants that seem to offer some protection against this risk.

These variants are not just genetic curiosities. They function by altering the way certain proteins and cells interact in the brain, thereby reducing the buildup of amyloid plaques and tau tangles, two key markers of Alzheimer's disease. The recent discovery by doctors at Massachusetts General Hospital of one of these genetic variants has sparked major interest in the scientific community, paving the way for new strategies to prevent the disease. Here is the link to the  Futura Science article on this topic.


The potential impact of these discoveries


The discovery of protective genetic variants against Alzheimer's disease is not just a scientific advance; it could have significant implications in the medical field. If these variants can be studied in detail, they could enable the development of targeted therapies that mimic their protective effect. For example, drugs could be created to activate or enhance the biological pathways associated with these variants, offering a new prevention strategy for at-risk individuals.

More broadly, this discovery could also change the way we approach screening and diagnosis of Alzheimer's disease. Genetic testing could one day identify individuals who carry these protective variants, allowing them to benefit from preventive treatments even before symptoms appear. Additionally, this could improve our understanding of the underlying mechanisms of the disease, leading to earlier and more effective interventions.

Professionally, the implications are also significant. With the aging population, the number of Alzheimer's cases is expected to increase, posing a challenge for healthcare systems and businesses. New discoveries about these genetic variants could lead to personalized prevention programs that would reduce the incidence of the disease, thereby easing the burden on healthcare and on the families of patients.

For employers, this could mean an extension of the working life of employees, fewer sick leaves related to dementia, and the maintenance of expertise and experience within the company. In itself, a senior would become just as professionally desirable as a junior 😉. Concurrently, these advancements could stimulate sectors such as biotechnology and pharmaceuticals, with increased demand for innovative solutions in the prevention and treatment of neurodegenerative diseases.

Of course, these advancements also raise ethical questions. Genetic screening raises concerns about privacy, potential discrimination, and equitable access to treatments. Perhaps it will be necessary to develop robust ethical frameworks to guide the use of these technologies, ensuring that the benefits are accessible to all, without stigmatization or exclusion. Finally, in my opinion…

While we are still far from completely defeating Alzheimer's, these discoveries offer new hope and open exciting avenues for research, prevention, and treatment. The road ahead is still long, but each step forward brings us closer to a future where Alzheimer's disease might no longer be a fatality.


For those who wish to delve deeper into this topic, you can consult the original article on ScienceDaily


Writer: Sébastien GENTY

Image: Made with Dall-E

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