July 24, 2024
Blood Cells

New Framework Uses Stress Tests on Blood Cells to Identify Genetic Risk of Disease

A team of researchers from Brigham and Women’s Hospital have developed a new framework that aims to identify the genetic contributors to disease by subjecting human blood cells to various stress tests. By using physical, chemical, and pharmacological stimuli, the researchers were able to observe the cellular responses and the genetic variants associated with them in nearly 2,600 individuals.

The study, published in the journal Nature Genetics, addresses the limitations of previous research efforts, which mainly focused on characterizing clinical parameters such as blood cell count. These studies failed to account for the dynamic effects of factors like inflammation, microbiome, and medications on the development and progression of diseases.

By subjecting blood cells to stress tests, the researchers were able to uncover links between specific blood-response characteristics and subsets of common diseases. Furthermore, they were able to identify the genetics underlying these distinct disease subtypes. For instance, the team used the framework to discover a population of activated neutrophils (a type of white blood cell) that can contribute to inflammation in cardiometabolic diseases.

The findings from this study have significant implications for the field of targeted therapeutics. Currently, the lack of understanding of the underlying biological mechanisms behind chronic progressive conditions has hindered the development of effective treatments. The new framework not only expands the range of clinical measures available for mapping the genetic basis of complex diseases but also paves the way for more personalized and targeted therapies.

Author Calum A. MacRae, MD, Ph.D., from the Division of Cardiovascular Medicine, commented on the significance of the research, stating that they were able to leverage existing technology to identify new disease-associated traits. By combining these tools with artificial intelligence (AI), disease classification can be improved, and drug discovery can be brought to the clinic.

The study highlights the potential of using stress tests on blood cells as a valuable tool for understanding the genetic risk of disease. By uncovering the genetic variants associated with specific cellular responses, researchers can gain insights into the mechanisms driving disease development. This knowledge could ultimately lead to the development of targeted therapeutics that address the underlying causes of diseases, rather than just managing symptoms.

Moving forward, further research is needed to validate and refine this framework. Additionally, the integration of AI and machine learning algorithms could enhance the efficiency and accuracy of identifying genetic risk factors for diseases. With advancements in technology and a deeper understanding of the genetic basis of diseases, the future of personalized medicine looks promising.

1. Source: Coherent Market Insights, Public sources, Desk research
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