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Mendelian randomization reveals shared genetic landscape in autism spectrum disorder and Alzheimer's disease

Lee et al. | Nov 04, 2024

Mendelian randomization reveals shared genetic landscape in autism spectrum disorder and Alzheimer's disease

Autism Spectrum Disorder (ASD) and Alzheimer's Disease (AD) are distinct conditions, but research suggests a link, as individuals with ASD are 2.5 times more likely to develop AD. A study employing genome-wide association studies and Mendelian randomization revealed shared genetic factors, particularly in synaptic regulation pathways, that may increase the risk of AD in those with ASD. These findings provide insights into the genetic underpinnings connecting the two disorders.

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The novel function of PMS2 mutation on ovarian cancer proliferation

Cho et al. | Dec 18, 2022

The novel function of <em>PMS2</em> mutation on ovarian cancer proliferation

With disruption of DNA repair pathways pertinent to the timeline of cancer, thorough evaluation of mutations relevant to DNA repair proteins is crucial within cancer research. One such mutation includes S815L PMS2 - a mutation that results in significant decrease of DNA repair function by PMS2 protein. While mutation of PMS2 is associated with significantly increased colorectal and endometrial cancer risk, much work is left to do to establish the functional effects of the S815L PMS2 mutation in ovarian cancer progression. In this article, researchers contribute to this essential area of research by uncovering the tumor-progressive effects of the S815L PMS2 mutation in the context of ovarian cancer cell lines.

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Upregulation of the Ribosomal Pathway as a Potential Blood-Based Genetic Biomarker for Comorbid Major Depressive Disorder (MDD) and PTSD

Ravi et al. | Aug 22, 2018

Upregulation of the Ribosomal Pathway as a Potential  Blood-Based Genetic Biomarker for Comorbid Major Depressive Disorder (MDD) and PTSD

Major Depressive Disorder (MDD), and Post-Traumatic Stress Disorder (PTSD) are two of the fastest growing comorbid diseases in the world. Using publicly available datasets from the National Institute for Biotechnology Information (NCBI), Ravi and Lee conducted a differential gene expression analysis using 184 blood samples from either control individuals or individuals with comorbid MDD and PTSD. As a result, the authors identified 253 highly differentially-expressed genes, with enrichment for proteins in the gene ontology group 'Ribosomal Pathway'. These genes may be used as blood-based biomarkers for susceptibility to MDD or PTSD, and to tailor treatments within a personalized medicine regime.

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The correlation between bacteria and colorectal cancer

Zhang et al. | Oct 21, 2024

The correlation between bacteria and colorectal cancer

The authors looked at abundance of bacteria in stool samples from patients with colorectal cancer compared to controls. They found different bacteria that was more prevalent in patients with colorectal cancer as well as bacteria in control patients that may indicate a beneficial gut microbiome.

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Advancing pediatric cancer predictions through generative artificial intelligence and machine learning

Yadav et al. | Dec 21, 2024

Advancing pediatric cancer predictions through generative artificial intelligence and machine learning

Pediatric cancers pose unique challenges due to their rarity and distinct biological factors, emphasizing the need for accurate survival prediction to guide treatment. This study integrated generative AI and machine learning, including synthetic data, to analyze 9,184 pediatric cancer patients, identifying age at diagnosis, cancer types, and anatomical sites as significant survival predictors. The findings highlight the potential of AI-driven approaches to improve survival prediction and inform personalized treatment strategies, with broader implications for innovative healthcare applications.

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The Effect of Poverty on Mosquito-borne Illness Across the United States

Kar et al. | Feb 25, 2021

The Effect of Poverty on Mosquito-borne Illness Across the United States

Mosquito-borne diseases are a major issue across the world, and the objective for this project was to determine the characteristics that make some communities more susceptible to these diseases than others. The authors identified and studied characteristics that make communities susceptible to mosquito-borne diseases, including water in square miles, average temperature, population, population density, and poverty rates per county. They found that the population of a county is the best indicator of the prevalence of mosquito-borne diseases.

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