Uncovering New Genetic Links to Alzheimer's Disease: Research from Boston University School of Public Health

In a groundbreaking discovery, researchers from Boston University School of Public Health and UTHealth Houston School of Public Health have identified novel genetic variants associated with Alzheimer's disease. This cutting-edge study utilized whole genome sequencing to pinpoint specific genes and genetic changes within regions known to be associated with the neurodegenerative condition. By uncovering 17 significant variants across five genomic regions, the researchers have taken a vital step towards understanding the biological pathways involved in Alzheimer's disease, potentially paving the way for future treatment strategies.

Alzheimer's disease, the fifth leading cause of death among individuals aged 65 and older in the United States, currently affects over 6 million Americans, with projections indicating a staggering increase to nearly 13 million by 2050. The urgency to unravel the genetic underpinnings of this debilitating disease has never been more pressing. Traditional genome-wide association studies have identified common variants linked to Alzheimer's disease, but the use of whole genome sequencing in this study has provided a more in-depth understanding of specific genetic changes contributing to disease risk.

One of the most notable findings of the study was the association of the KAT8 variant with Alzheimer's disease, alongside several rare TREM2 variants. By analyzing data from the Alzheimer's Disease Sequencing Project, which includes over 95 million variants from participants with and without the disease, the researchers were able to identify both known and novel genetic associations. Importantly, the study included participants from diverse ethnic backgrounds, addressing the historical underrepresentation of Black and Latino populations in genetic studies of Alzheimer's disease.

The significance of incorporating diverse populations in genetic research was highlighted by study co-senior author Dr. Anita DeStefano, emphasizing the need to understand the full spectrum of Alzheimer's disease risk across different ethnic groups. Moving forward, the researchers aim to expand their investigations with larger sample sizes to explore the impact of these population-specific genetic variants on biological mechanisms underlying Alzheimer's disease.

This groundbreaking study, funded by the National Institute on Aging, marks a crucial advancement in the quest to unravel the complex genetic architecture of Alzheimer's disease. With a focus on enhancing our understanding of the disease at a molecular level, the researchers are poised to make significant strides towards developing targeted treatments and preventive strategies in the fight against Alzheimer's.

As we delve deeper into the genetic landscape of Alzheimer's disease, the hope is that these discoveries will not only shed light on the biological mechanisms driving the condition but also lead to more effective interventions that can improve the lives of millions affected by this devastating disease.

Source: https://www.eurekalert.org/news-releases/1038340