Showing posts with label #genomic. Show all posts
Showing posts with label #genomic. Show all posts

Tuesday, December 9, 2025

New Genetic Signals in Centenarians Point to Longevity Pathways

 This new Nature Communications study provides strong evidence that centenarians carry fewer harmful, loss-of-function mutations in key genes compared to the general population. These protective genetic patterns likely help maintain healthier biological systems over time, especially in pathways related to immune stability, cellular repair, and metabolism. By identifying specific genes that are consistently preserved in long-lived individuals, researchers can better understand which biological processes are essential for healthy aging.

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This is important because it shifts part of the focus in longevity research from searching only for “longevity genes” to understanding which damaging mutations people don't have. When combined with broader genetic studies, the findings support the idea that exceptional longevity comes from a combination of fewer harmful variants and many small, beneficial genetic effects. This research moves scientists closer to identifying targets that might one day help extend health span or prevent age-related diseases.

Main Article: https://www.nature.com/articles/s41467-024-52967-2

2nd Article: https://pmc.ncbi.nlm.nih.gov/articles/PMC11312667/

Monday, October 27, 2025

Genetic Insights into Why Depression Affects Women More Than Men

       In a recent study done by Dr. Jodi Thomas at the School of Biomedical Sciences at The University of Queensland, it has been found that major depressive disorder (MDD) impacts almost twice as many women as it does men. Researchers findings in the study with over 200,000 men and women with MDD start to unpack the underlying causes of MDD in both sexes. They categorized genetic effects into three separate groups: shared effects present in both sexes, sex-dependent effects that differ in magnitude or direction, and sex-specific effects present in only one sex. Their analysis revealed that women carry about 13,200 genetic variants linked to MDD while men have only 7,100, suggesting that women might bear a higher genetic burden (including 6,100 variants potentially unique to females). Additionally, three genomic regions were identified as major only in women, supporting the presence of sex-specific genetic influences.

The study also focused on genetic correlations between MDD and metabolic traits like body mass index (BMI) and metabolic syndrome. These correlations were stronger in women, consistent with clinical observations that women with MDD more often experience metabolic symptoms. With this, researchers recorded limitations in statistical power, meaning that not all causal genetic regions could be definitively identified. In addition, genetic correlations between men and women with MDD were slightly lower than expected, underscoring possible differences in cohort characteristics. This suggests that twin studies and GWASs may capture distinct aspects of genetic risk.


    Ultimately, the study highlighted a noteworthy variant on the X chromosome in men, mapping to the IL1RAPL1 gene, which is involved in memory and has been associated with several other traits but not previously with MDD. While the role of this gene in male depression is still unclear, it provides a promising opportunity for further research. Overall, the study harps on the importance of sex-stratified analyses to comprehend the biological function of MDD and points to the need for more data collection and further investigation into molecular mechanisms that mediate sex-dependent and sex-specific genetic impacts.


Sources:

https://www.nature.com/articles/d41586-025-03374-0

https://www.nature.com/articles/s41467-025-63236-1

https://www.mayoclinic.org/diseases-conditions/depression/symptoms-causes/syc-20356007



Tuesday, May 3, 2022

Expanding Use of Clinical Genome Sequencing and the Need for More Data on Implementation

   

Visiting the doctor for a UTI? Here's what you need to know | Understanding  UTIs, Part 4 - Scope

     The future is coming sooner than expected. Technology, especially in the field of science is rapidly working to improve the quality of life. In this article, it shows what may happen in the next five years. In five years nearly sixty (60) million individuals will have their genome sequenced. It has been stated the use of next generation sequencing will be available worldwide that it will soon be used in a clinical setting. This being said, in roughly five years, individual will just have to get their genome sequenced, wait for a few minutes, and the health professionals will know what is specifically going on in one's body. It is an amazing concept, I will wonder how it will play out. 

    For a related article, please click here.

Wednesday, November 13, 2019

Genetic Tests Cost a Pretty Penny for Cancer Patients

https://www.usnews.com/news/health-news/articles/2019-11-01/many-cancer-docs-dont-discuss-costs-of-pricey-gene-tests
https://www.webmd.com/health-insurance/news/20191101/many-cancer-docs-dont-discuss-costs-of-pricey-gene-tests?src=rss_public



Genomic tests ran on people who have cancer can really define the best tests and treatments that these patients should undergo. These tests are very expensive and many of them are not covered by insurance companies. In this post, data was collected from over a thousand oncologists about how to go about testing these patients should get for the best interest of themselves but their pockets as well. Over fifty percent of doctors go over costs with their patients so they are aware, but over twenty five percent do not. I understand why the cost might not be brought up because any amount of money is less important than the cost of your life, and if they test were to save your life who cares how much money it would cost.  Cancer treatment costs are rising and so are the genomic testing prices, it’s a real shame innocent people have to go through this. As if having cancer was not enough, the medical bills start to pile up. 

Image result for genetic testing



The topic of genomic testing for cancer patients hits close to home due to my sister having to get her genetics ran this past January when she was diagnosed with stage three breast cancer. This journey was hard and long, but the doctors were brilliant, and the doctors told her to obtain this testing to see if she had the genes breast cancer codes for or was this just an environmental cause. This process could become very frustrating because there are no answers to why someone has cancer, and having a test done costing so much money is a waste of money that these people do not have to spare.