Saturday, March 28, 2026

Detecting Early-Onset Dementia Before Symptoms Begin

 

Carmine Martino

BIOL-2110-001

Dr. Guy Barbato

March 28th, 2026



    This article talks about research being done at UT Health San Antonio focused on early on-set dementia, which is a form of dementia that affects people under the age of 65. The researchers are working to better understand the causes of the disease while also working to develop new tools that can help detect it earlier on. 

    One of the main things the article mentions is the use of new diagnostic methods, including blood-based biomarkers and advanced imaging techniques. These tools are being studied as ways to identify signs of dementia long before a person actually starts showing symptoms. The idea is that if doctors can detect the dementia earlier, they can better understand how it develops and potentially improve how it is managed.

    The researchers are also focusing on the genetics side of early-onset dementia. The article explains that many cases of early-onset dementia are still sporadic, meaning the exact cause is unknown. Instead of one specific gene determining whether someone will get the disease, researchers believe that while genetics can increase risk, it may also be a mix of different factors like lifestyle and environmental influences on brain health. Nevertheless, scientists are still looking at genetic patterns to better understand the risks and how the disease develops. 

    While current diagnoses usually happen after symptoms begin, these new approaches aim to change that by identifying the disease much earlier. This could make a big difference in how patients are treated and how the disease is studied overtime.

    I personally liked this article because it shows how research is improving when it comes to diseases that are hard to understand. The idea that doctors might be able to detect dementia years before symptoms start is remarkable. Even though the exact causes are still not fully known, studies like this make it seem possible that in the future, there could be better treatments or even ways to prevent it altogether within the next few decades.


Article:

https://news.uthscsa.edu/researchers-explore-genetic-roots-new-diagnostic-tools-for-early-onset-dementia/

Extra Source:

https://www.alz.org/alzheimers-dementia/what-is-dementia#:~:text=Dementia%20is%20a%20general%20term,most%20common%20cause%20of%20dementia.

Getting Drunk Faster Can be Affected by Genetics

                                                    

    Undenying low tolerance affects getting drunk faster; however, regardless of physical attributes and the number of drinks consumed, Dr. Laura Tran explains in a study from The Scientist that beside tolerance people get drunk faster could have the participation of genetics. Scientists are working to determine how genetic disparities influence alcohol metabolism and to understand how the body absorbs and processes alcohol as well as why among individuals the effects vary. The main point is that certain genes control how quickly alcohol is broken down in the body by the mutations in two main enzymes, alcohol dehydrogenase (ADH) and aldehyde dehydrogenase (ALDH), which alter alcohol metabolism. After getting drunk, ADH takes the first step in turning alcohol into a toxic substance called acetaldehyde, while ALDH breaks them down into a less harmful substance for the body to remove. Therefore, people with slower ALDH activity make metabolite buildup and alcohol stays longer, causing stronger and faster intoxication. Furthermore, the study mentions static ataxia, people with family history of alcoholism tend to show less body sway after drinking. Suggesting their brain may responds differently, especially in the cerebellum, which controls balance and movement.

    It is interesting when something as common as drinking alcohol can be different because of genetics. This study explores the challenge that people do not react the same way even with similar genes, making scientists harder to effectively predict how alcohol will affect each person. However, doctors can give personalized advice to possibly prevent alcohol misuse by identifying higher-risk individuals.


Source: 

https://www.the-scientist.com/why-do-some-people-get-drunk-faster-than-others-72385


Additional Source:

https://www.the-scientist.com/cerebellum-plays-crucial-role-in-metabolizing-alcohol-in-mice-68620


Friday, March 27, 2026

Gene Therapy is Becoming Real

Links:

  • https://www.fda.gov/news-events/press-announcements
  • https://medlineplus.gov/genetics/understanding/therapy/



Tag: Gene Therapy

Commentary:

Gene therapy is no longer just something being tested, it is actually being used to treat real patients. By replacing or fixing a faulty gene, it targets the root cause of the disease instead of just managing symptoms. That is a huge shift in how treatment works. The downside is that these therapies are extremely expensive and not accessible to everyone. There are also risks, especially with how the body responds to viral vectors used to deliver the gene. Even with that, it shows how powerful genetics can be in medicine and it is likely going to expand a lot in the future.


Hereditary-patterned baldness

Hereditary-pattern baldness is a common, natural form of hair loss caused by genetics, hormones, and aging. It leads to gradual thinning of hair often starting at the temples and crown in men and as overall thinning on the top of the scalp in women. The hair loss is permanent, treatments like minoxidil or finasteride can slow it down or help regrow some hair. The condition tends to worsen over time, especially if it starts at a younger age. 


#Genetics #SportsScience #DNA #HumanTraits #ScienceNews

Source : https://www.health.harvard.edu/a_to_z/hereditary-patterned-baldness-a-to-z

How Genes Affect Heart Function and Lead to Heart Failure

 How Genes Affect Heart Function and Lead to Heart Failure

A recent genetics study published in Nature Communications looked at how genes affect the structure and function of the heart’s ventricles and how this relates to heart failure. Researchers studied genetic data from more than 56,000 people and found over 200 genetic locations linked to heart function, including many that had never been discovered before.

 Some of these genes may help explain why certain people are more likely to develop heart failure. The study also identified possible targets for new medications, which could help doctors treat heart failure more effectively in the future. Understanding the genetic causes of heart disease is important because it can lead to earlier diagnosis, better prevention, and more personalized treatments based on a person’s DNA. This research shows how genome-wide studies can help scientists find new ways to improve patient care and develop therapies for serious conditions like heart failure. 

Citations:

Aung, N., Vargas, J. D., Yang, C., Fung, K., Sanghvi, M. M., Piechnik, S. K., Neubauer, S., Ani Manichaikul, Rotter, J. I., Taylor, K. D., Joao, Bluemke, D. A., Kawut, S. M., Petersen, S. E., & Munroe, P. B. (2022). Genome-wide association analysis reveals insights into the genetic architecture of right ventricular structure and function. Nature Genetics, 54(6), 783–791. https://doi.org/10.1038/s41588-022-01083-2

Nicholls, H. L., Vargas, J. D., Sanghvi, M. M., Ahn, H.-S., Chahal, C. A. A., Khanji, M. Y., Petersen, S. E., Munroe, P. B., & Aung, N. (2026). Genome-wide analysis of cardiac ventricular phenotypes reveals novel loci and therapeutic targets for heart failure. Nature Communications. https://doi.org/10.1038/s41467-026-69982-0


Thursday, March 26, 2026

How Snails Can Help Us Grow New Eyes

A species of snail once thought to be an invasive nuisance has become a major stepping stone in the medical felid serving as a great model organism. Recent research shows that the golden apple snail could unlock the secret to regenerating lost or damaged human eyes. It essentially explains that the golden apple snail has eyes which are both structurally and genetically similar to human eyes. However unlike humans, this snail has the ability to completely regenerate its eyes if damaged or lost entirely. Further more both snails and humans need the PAX6 gene to grow eyes, Accorsi found that when she disabled that particular gene that the snails could not grow eyes at all. Understanding how these snail regenerate their eyes could provide insight on how to better treat eye injury and disease. Despite being early in the research process the articles suggests that scientists may be able to utilize these mechanics in order to develop and repair human eyes.



Saey, T. H. (2025, August 6). This snail may hold a secret to human eye regeneration. Science News. https://www.sciencenews.org/article/snail-human-eye-regeneration

Scanza, R. (2024, March 27). An eye for an eye: The apple snail. Stowers Institute. https://www.stowers.org/news/an-eye-for-an-eye-the-apple-snail

Chromosome Rearrangements: Small Changes, Big Effects

    One topic that has been getting more attention is chromosome rearrangement, a major type of chromosome mutation. These chromosome rearrangements include deletions, duplications, inversions, and translocations. Instead of changing just one gene, they move large sections of DNA around. So, many serious health conditions like developmental delays, intellectual disabilities, congenital disabilities, and complex disorders, can be caused by the loss of genetic material or disruption of genes.


Figure: Explaining types of Chromosomal Rearrangement


    The study explains even though rearrangements are not always harmful, they still affect how genes are expressed. In other cases, important genetic information might be lost or duplicated due to rearrangements. Another point is that these mutations usually happen during processes like meiosis, when reproductive cells are being formed so rearrangements can sometimes be passed down to future generations. Specifically, people get chromosomal rearrangements during the formation of egg and sperm. When pairs of chromosomes break and swap species during recombination step, rearrangement may occur if they line up unevenly or the break is not repaired properly. If these cells are involved in fertilization, the embryo can inherit extra, missing, or rearranged chromosome pieces, which are then copied into all the cells as the baby grows.  

    As mentioned, since chromosome rearrangements are linked to many genetic disorders and diseases, studying these mutations helps scientists understand how the genome works. As a result, the treatment is offered by using genetic testing to identify these rearrangements early, which helps doctors diagnose certain conditions more effectively.


Source:

https://www.labxchange.org/library/items/lb:LabXchange:dc2581f7:html:1

Additional Source:

https://learn.genetics.utah.edu/content/disorders/rearrangements/


CRISPR is Actually Fixing Genetic Diseases

 Links:

  • https://www.nature.com/articles/d41586-023-03972-9 
  • https://www.genome.gov/about-genomics/policy-issues/Genome-Editing



Tag: CRISPR

Commentary:

CRISPR is starting to actually fix genetic diseases like sickle cell, which is something that used to sound impossible. Instead of just treating symptoms, it goes straight to the DNA and corrects the mutation. That completely changes how we think about medicine. At the same time, it is not perfect and there are still risks, especially with off target edits and long term effects. There is also the bigger question of how far this should go, especially if people start using it for non medical reasons. Even with those concerns, this is one of the biggest breakthroughs in genetics right now and it is only going to keep growing.