AI-Based Liquid Biopsy for the Early Detection of Circulating Tumor DNA

Figure 1. The workflow of liquid biopsy using artificial intelligence and machine learning algorithms for early detection and personalized treatments of cancer.


    Liquid biopsy, a minimally invasive and often blood-based test, detects circulating cancer-related genetic material such as tumor cells (CTCs), circulating tumor DNA (ctDNA), extracellular vesicles (EVs), tumor-educated platelets (TEPs), and circulating RNAs within body fluids. With the integration of artificial intelligence (AI) and machine learning (ML) algorithms, liquid biopsy can become more sensitive and precise in its analysis. Liquid biopsy can ultimately improve early detection, predict prognosis, and monitor treatment response in different cancers. AI models help liquid biopsy accomplish this by distinguishing tumor-generated ctDNA from hematopoietic cells and other non-malignant tissues through the liquid biopsy's low signal-to-noise ratio. From there, AI employs multilayered analytical techniques, exploiting distinct molecular features that identify ctDNA from normal cfDNA. This consists of somatic mutation detection, differential DNA methylation patterns, and copy number alterations. It also has the ability to detect epigenetic biomarkers on the DNA, indicating which organ the cancer originated from. Additionally, the DNA fragmentation as a result of cell death is detected by AI as "genomic fingerprints” that are identified to catch cancer at Stage I.

    Liquid biopsy extends beyond diagnosis - it holds additional significance in its ability to generate prognostic insights, helping anticipate the likely trajectory of a patient’s disease. The non-invasive and repeatable nature of liquid biopsy permits long-term follow up, allowing clinicians to assess the disease evolution in real-time and appropriately respond to the therapy. Unlike a tissue biopsy that focuses on a specific area, a liquid biopsy focuses on the genetic material that represents the entire tumor heterogeneity, including sub-clonal mutations that can be missed by a tissue biopsy. Essentially, liquid biopsy provides a dynamic overview of tumor behavior. While its clinical application is constrained due to limited sensitivity, specificity, and a lack of standardization, liquid biopsy can be a significantly impactful tool to uncover genetic and molecular alterations that happen early in the development of cancer and provide circulating molecular tumor-derived material.



Links:

https://pmc.ncbi.nlm.nih.gov/articles/PMC12839035/

https://pmc.ncbi.nlm.nih.gov/articles/PMC13064412/

Genetic Mutations Contributing to Disorders in the Brain

 Researchers identified several new genetic mutations that contribute to brain development disorders linked to severe childhood epilepsy. By analyzing brain tissue from affected children, scientists found that many of these mutations occur in genes that control how brain cells grow, divide, and communicate during early development. Some mutations disrupted important pathways, such as the mTOR pathway, leading to abnormal brain structure and seizures. The discovery helps scientists better understand the genetic causes of these disorders and may lead to more accurate diagnoses and targeted treatments in the future.

#disorder #genetic #brain 

source: https://www.nimh.nih.gov/news/science-updates/2023/researchers-unlock-genetic-mutations-contributing-to-disorders-in-the-brain

https://medlineplus.gov/geneticbraindisorders.html

New Study Rewrites Decades of Fat Science

Scientists have discovered that a protein called HSL not only breaks down fat, but also helps regulate cell health and metabolism. This is why people (and mice) missing this gene develop something called lipodystrophy. This rare condition causes people to lose healthy fat tissue, rather than become obese, despite the fact that HSL breaks down fat. These findings could lead to new approaches for treating metabolic diseases. The information from this research calls for more targeted therapeutic strategies for conditions like obesity, insulin resistance, and type 2 diabetes. The work also reinforces the idea that metabolic enzymes can have multiple functions and provides a deeper understanding of cellular metabolism/energy balances. 

Sources:

https://www.sciencedaily.com/releases/2026/05/260508171123.htm

https://www.cell.com/cell-metabolism/fulltext/S1550-4131(25)00433-4

GloFish: one step closer to Jurassic Park

 

    When I was in elementary school, my friends and I used to play this game on the computers called Duck Life. Duck Life was a franchise, plenty of games, but there was a continuous story throughout them all. I forget which game it was, but one of the Duck Life games had a story along the lines of: the previous game's duck was unbeatable, therefore, the only way to surpass it, is to genetically modify new ducks into freaks of nature that can swim, run, and climb faster than a normal duck. I always thought this one was the coolest, much to the disagreement of my friends. Growing up on Jurassic Park, specifically the book by Micheal Critchon, I always liked the idea of genetically modifying a creature into a new form, whether it was modifying my duck to have massive gorilla arms to climb Mount Fiji, or filling in the gaps of dinosaur DNA with that of modern reptiles to produce the featherless dinosaurs in Jurassic Park, something about the idea was just so neat to me.

     My little god complex aside; this happens everywhere! While not dinosaurs, genetic modification is a common technique nowadays in the pet industry. For many, many centuries, animals were bred for desirable traits, including pets like dogs and cats. This is different from genetic engineering, as where breeding focuses a lot more on the phenotypes, and breeding for desired traits, genetic engineering focuses on altering the DNA itself into a new form. The article focuses in on a new genetically engineered fish called GloFish, which were modified to express fluorescent proteins they do not typically express in nature. The first GloFish was actually made using Green Fluorescence Protein extracted from jellyfish; the same one used in this year's genetics lab. Since then, due to advances in technology and computers increasing in power significantly, many more colors are now available on the market. I think this also highlights a darker side of genetics, were, theoretically, organisms can be genetically modified into more dangerous versions of existing organisms. With increasing accessibility to genomic information due to massive online gene banks, it's only a matter of time before some sort of bioterrorism event happens where someone somewhere somehow gives a mantis x-ray vision and destroys the local Walmart supercenter. 

Sources:

https://247wallst.com/technology-3/2025/10/12/genetically-engineered-pets-are-here-and-you-can-buy-one-for-7/

https://petreader.net/the-origins-of-glofish-a-brief-history/

Similarities in Genetic Pathways Between Humans and Mice Regarding Disk Herniation

 

In a recent study examining the genetic factors and age regarding disk herniation in mouse models, researchers may have found similarities to the condition in humans.

“Disk herniation” is when the disks in between the vertebrae of the spine protrude, which often puts pressure on the nerve and can cause extreme pain and discomfort. While this is a well documented condition in human individuals over the age of 40, mice are also capable of experiencing disk herniation. When researchers analyzed genetic markers for the condition in mice, similarities were discovered to those in humans. Transcriptomic analysis confirmed that pathways for inflammation and the activation of immune cells were similar in mice and humans and this way.

This has very large implications for the medical industry, as the more genes that are discovered in mice that create similar pathways to those for humans, the better we are able to understand human diseases and treat them.

Sources:

https://www.science.org/doi/10.1126/sciadv.ado6847

https://pubmed.ncbi.nlm.nih.gov/15879573/

The Potential of Cardiac Gene Therapy

 

A recent article explains how gene therapy is rapidly transforming modern medicine by evolving from an experimental concept into a powerful tool with real world success in treating genetic disorders. Today, researchers are exploring how these same technologies could revolutionize the treatment of cardiovascular disease.

Although current treatments such as medications, medical devices, and lifestyle changes have improved patient outcomes, they fail to address the underlying molecular causes of heart disease. Gene therapy offers a new approach by targeting disease at the genetic and cellular levels, potentially providing long lasting or curative treatments for heart conditions, which include heart failure, cardiomyopathies, arrhythmias, and vascular disease.

One aspect of cardiac gene therapy is the development of advanced delivery systems, like viral vectors and lipid nanoparticles that can transport therapeutic genes directly into heart tissue. These technologies allow scientists to precisely control where and how genes are expressed. While challenges still remain, researchers are becoming increasingly optimistic about the future of molecular medicine in cardiology.

Link:
https://www.sciencedirect.com/science/article/pii/S0828282X26000644#sec14


Additional:

https://www.ahajournals.org/doi/full/10.1161/CIRCRESAHA.116.310039

Genetic test for the personalization of sport training

 The article explains that athletic performance is influenced by a combination of genetics, training, nutrition, and environment, rather than by a single “sports gene.” Researchers have identified certain genes, such as ACE and ACTN3, that may influence whether a person is naturally better suited for endurance activities or power-and-sprint-based sports. The paper also discusses how genetics can influence injury risk, recovery time, and response to different types of exercise. Although commercial DNA tests claim they can identify athletic talent and create personalized training programs, the authors argue that the science is still limited and cannot reliably predict elite performance. They emphasize that hard work, coaching, motivation, and lifestyle remain far more important than genetic testing alone, while also raising concerns about privacy, discrimination, and the ethical use of genetic information in sports.

#sports #dna #athletictalent #genes 

source: https://pmc.ncbi.nlm.nih.gov/articles/PMC8023127/

CRISPR Reprograms CAR T-Cells to Improve Cancer Treatments

Figure 1. A two-vector system is applied for in vivo CAR T-cell production, delivering CRISPR-Cas9 components that enable the engineered T-cells to target and destroy cancer cells.


     CRISPR, a gene-editing tool, has improved cancer immunotherapy by amplifying an immune cell’s ability to recognize tumors, effectively preventing them from further developing. With the use of CRISPR-Cas9 technology, T-cells (white blood cells produced in the thymus) were engineered to produce Chimeric Antigen Receptor (CAR) -T cells, which target cancer cells. Usually, CAR-T therapy is performed in a laboratory setting, requiring immune cells to be removed from a patient, genetically modified, and then reinfused. Consequently, the therapy is time-consuming and expensive. However, researchers have found a way to genetically reprogram T-cells in vivo, allowing for direct immune cell modification within the patient to be done.

     A two-vector system was developed to “deliver CRISPR-Cas9 ribonucleoproteins and a DNA donor template via enveloped delivery transporters and adeno-associated viruses” (Nyberg et al., 2026). By incorporating a CAR transgene into a particular locus receptive towards T cells, therapeutic levels of CAR T-cells were produced in vivo. This procedure was tested with humanized mouse models of B-cell aplasia, carrying blood and solid tumors. The engineered T-cells successfully attacked both the blood and solid tumors in the mouse models. Ultimately, the articles revealed the possibility of faster and more accessible CAR-T cancer treatments through CRISPR gene editing.



Links:

https://www.nature.com/articles/s41586-026-10235-x
https://pmc.ncbi.nlm.nih.gov/articles/PMC13096480/